846 research outputs found
Identifying reports of randomized controlled trials (RCTs) via a hybrid machine learning and crowdsourcing approach
- Author
- Publication venue
- Publication date
- 18/05/2017
- Field of study
OBJECTIVES: Identifying all published reports of randomized controlled trials (RCTs) is an important aim, but it requires extensive manual effort to separate RCTs from non-RCTs, even using current machine learning (ML) approaches. We aimed tomake this process more efficient via a hybrid approach using both crowdsourcing andML. METHODS: We trained a classifier to discriminate between citations that describe RCTs and those that do not. We then adopted a simple strategy of automatically excluding citations deemed very unlikely to be RCTs by the classifier and deferring to crowdworkers otherwise. RESULTS: Combining ML and crowdsourcing provid es a highly sensitive RCT identification strategy (our estimates suggest 95%-99% recall) with substantially less effort (we observed a reduction of around 60%-80%) than relying on manual screening alone. CONCLUSIONS: Hybrid crowd-ML strategies warrant further exploration for biomedical curation/annotation tasks
Human TRMT2A methylates tRNA and contributes to translation fidelity
- Author
- Publication venue
- Ludwig-Maximilians-Universität München
- Publication date
- 08/09/2023
- Field of study
5-Methyluridine (m5U) is one of the most abundant RNA modifications found in cytosolic tRNA. tRNA methyltransferase 2 homolog A (hTRMT2A) is the dedicated mammalian enzyme for m5U formation at tRNA position 54. However, its RNA binding specificity and functional role in the cell are not well understood. Here we dissected structural and sequence requirements for binding and methylation of its RNA targets. Specificity of tRNA modification by hTRMT2A is achieved by a combination of modest binding preference and presence of a uridine in position 54 of tRNAs. Mutational analysis together with cross-linking experiments identified a large hTRMT2A–tRNA binding surface. Furthermore, complementing hTRMT2A interactome studies revealed that hTRMT2A interacts with proteins involved in RNA biogenesis. Finally, we addressed the question of the importance of hTRMT2A function by showing that its knockdown reduces translation fidelity. These findings extend the role of hTRMT2A beyond tRNA modification towards a role in translation
Antibody attributes that predict the neutralization and effector function of polyclonal responses to SARS-CoV-2
- Author
- Ackerman Margaret E.
- Ajayi Olivia
- Benner Sarah E.
- Bloch Evan M.
- Butler Savannah E.
- Casadevall Arturo
- Connor Ruth I.
- Crowley Andrew R.
- Littlefield Kirsten
- Natarajan Harini
- Pekosz Andrew
- Quinn Thomas C.
- Redd Andrew D.
- Shoham Shmuel
- Shrestha Ruchee
- Sullivan David
- Tobian Aaron A.R.
- Weiner Joshua A.
- Wieland-Alter Wendy
- Wright Peter F.
- Xu Shiwei
- Publication venue
- Dartmouth Digital Commons
- Publication date
- 08/08/2021
- Field of study
BACKGROUND: While antibodies can provide significant protection from SARS-CoV-2 infection and disease sequelae, the specific attributes of the humoral response that contribute to immunity are incompletely defined. METHODS: We employ machine learning to relate characteristics of the polyclonal antibody response raised by natural infection to diverse antibody effector functions and neutralization potency with the goal of generating both accurate predictions of each activity based on antibody response profiles as well as insights into antibody mechanisms of action. RESULTS: To this end, antibody-mediated phagocytosis, cytotoxicity, complement deposition, and neutralization were accurately predicted from biophysical antibody profiles in both discovery and validation cohorts. These models identified SARS-CoV-2-specific IgM as a key predictor of neutralization activity whose mechanistic relevance was supported experimentally by depletion. CONCLUSIONS: Validated models of how different aspects of the humoral response relate to antiviral antibody activities suggest desirable attributes to recapitulate by vaccination or other antibody-based interventions
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
- Author
- Adair Linda S
- Al-Odaib Ali
- Alkuraya Fowzan S
- Amouyel Philippe
- Andersson Ehm Astrid
- Barton Sheila J
- Bennett Amanda J
- Berry Diane J
- Bisgaard Hans
- Blakemore Alexandra IF
- Boomsma Dorret I
- Boreham Colin AG
- Bradfield Jonathan P
- Bustamante Mariona
- Buxton Jessica L
- Bønnelykke Klaus
- Charoen Pimphen
- Cooper Cyrus
- Cousminer Diana L
- Dallongeville Jean
- Das Shikta
- de Geus Eco JC
- Dedoussis George V
- den Hoed Marcel
- Early Growth Genetics (EGG) Consortium
- Eriksson Johan G
- Estivill Xavier
- Evans David M
- Feenstra Bjarke
- Flexeder Claudia
- Frayling Timothy M
- Freathy Rachel M
- Froguel Philippe
- Fulford Anthony J
- Geller Frank
- Gillman Matthew W
- Godfrey Keith M
- Goh Liang-Kee
- Gottrand Frédéric
- Grant Struan FA
- Groves Christopher J
- Guxens Mònica
- Hakonarson Hakon
- Hansen Torben
- Harder Marie N
- Hattersley Andrew T
- Heikkinen Jani
- Heinrich Joachim
- Hennig Branwen J
- Hirschhorn Joel N
- Hocher Berthold
- Hofman Albert
- Hollegaard Mads V
- Holloway John W
- Horikoshi Momoko
- Hottenga Jouke-Jan
- Hougaard David M
- Hyppönen Elina
- Inskip Hazel M
- Isaacs Aaron
- Jaddoe Vincent WV
- Jameson Karen A
- Jarvelin Marjo-Riitta
- Jørgensen Torben
- Kaakinen Marika
- Kanaka-Gantenbein Christina
- Kemp John P
- Kerkhof Marjan
- Kiess Wieland
- Kilpeläinen Tuomas O
- Kirin Mirna
- Klopp Norman
- Knight Bridget A
- Koppelman Gerard H
- Kreiner-Møller Eskil
- Kutalik Zoltán
- Kuzawa Christopher W
- Körner Antje
- Lagou Vasiliki
- Lakka Timo A
- Lawlor Debbie A
- Lehtimäki Terho
- Lindi Virpi
- Loos Ruth JF
- Mahajan Anubha
- McCarthy Mark I
- McMahon George
- Meirhaeghe Aline
- Melbye Mads
- Meta-Analyses of Glucose- and Insulin-related traits Consortium
- Meyer Brian F
- Mohlke Karen L
- Monies Dorota M
- Mook-Kanamori Dennis O
- Moreno Luis A
- Newnham John P
- Niinikoski Harri
- Ntalla Ioanna
- Ong Ken K
- Oostra Ben A
- Pearson Ewan R
- Pedersen Louise
- Pedersen Oluf
- Pennell Craig E
- Pfab Thiemo
- Postma Dirkje S
- Pouta Anneli
- Power Chris
- Prentice Andrew M
- Prokopenko Inga
- Raitakari Olli T
- Ring Susan M
- Rivadeneira Fernando
- Robertson Neil R
- Saarinen Maiju
- Salem Rany M
- Saw Seang-Mei
- Sebert Sylvain
- Shields Beverley M
- Simell Olli
- Slowinski Torsten
- Smith George Davey
- Sovio Ulla
- St Pourcain Beate
- Stumvoll Michael
- Taal H Rob
- Thiering Elisabeth
- Tiesler Carla MT
- Timpson Nicholas J
- Tönjes Anke
- Uitterlinden André G
- Vaag Allan
- van Duijn Cornelia M
- van Leeuwen Elisabeth M
- Viikari Jorma S
- Vink Jacqueline M
- Vissing Nadja Hawwa
- Vollenweider Peter
- Wareham Nicholas J
- Warrington Nicole M
- Widén Elisabeth
- Willemsen Gonneke
- Wilson James F
- Witte Daniel R
- Wu Ying
- Yaghootkar Hanieh
- Zhang Haitao
- Zhao Jianhua
- Zhao Jing Hua
- Zhou Kaixin
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2012
- Field of study
Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood. Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits. In an expanded genome-wide association meta-analysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism
A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors
- Author
- Abel Emily
- Agüero Pablo
- Alcolea Daniel
- Almeida Maria Rosario
- Andres-Cerezo Lucie
- Antonell Anna
- Arcaro Marina
- Arighi Andrea
- Arndt Philipp
- Bagnoli Silvia
- Baker Matt
- Barandiaran Myriam
- Benussi Luisa
- Binetti Giuliano
- Block Matthew S.
- Boeve Bradley
- Borroni Barbara
- Bruni Amalia
- Bråthen Geir
- Cantoni Valentina
- Carlson Aaron M.
- Clarimon Jordi
- Clot Fabienne
- Coppola Giovanni
- Dickson Dennis W.
- Durães João
- Feneberg Emily
- Fenoglio Chiara
- Finch Ni Cole
- Fortea Juan
- Gabilondo Alazne
- Galimberti Daniela
- Gazzina Stefano
- Ghidoni Roberta
- Gohda Tomohito
- Graff Caroline
- Graff-Radford Neill R.
- Greither Thomas
- Grøntvedt Gøril Rolfseng
- Gómez-Núñez Alba
- Gómez-Tortosa Estrella
- Heller Carolin
- Heslegrave Amanda
- Hiemisch Andreas
- Illán-Gala Ignacio
- Jian Jinlong
- Jiskoot Lize C.
- Jurkutat Anne
- Kamei Nozomu
- Kiess Wieland
- Kittel-Schneider Sarah
- Lamari Foudil
- Lauridsen Camilla
- LeBer Isabelle
- Lemos João
- Lima Marisa
- Liu Chuanju
- Lleó Alberto
- Lohmann Ebba
- Meeter Lieke H.H.
- Mengel David
- Moreno Fermín
- Murakoshi Maki
- Otto Markus
- Petersen Ronald C.
- Puey Roger
- Quante Mirja
- Rademakers Rosa
- Reif Andreas
- Rivolta Jasmine
- Rohrer Jonathan D.
- Rossi Giacomina
- Rotondo Enmanuela
- Sainz M. José
- Sando Sigrid Botne
- Santana Isabel
- Schreiber Stefanie
- Seelaar Harro
- Sellami Leila
- Serpente Maria
- Serrero Ginette
- Sogorb-Esteve Aitana
- Steinacker Petra
- Stubert Johannes
- Swift Imogen J.
- Synofzik Matthis
- Sánchez-Valle Raquel
- Takada Leonel T.
- Theil Gerit
- Tábuas-Pereira Miguel
- Van Damme Philip
- van der Ende Emma L.
- van Swieten John C.
- Vielhaber Stefan
- Weigl Johannes
- Wilke Carlo
- Zetterberg Henrik
- Publication venue
- Publication date
- 28/03/2024
- Field of study
Background: Pathogenic heterozygous mutations in the progranulin gene (GRN) are a key cause of frontotemporal dementia (FTD), leading to significantly reduced biofluid concentrations of the progranulin protein (PGRN). This has led to a number of ongoing therapeutic trials aiming to treat this form of FTD by increasing PGRN levels in mutation carriers. However, we currently lack a complete understanding of factors that affect PGRN levels and potential variation in measurement methods. Here, we aimed to address this gap in knowledge by systematically reviewing published literature on biofluid PGRN concentrations. Methods: Published data including biofluid PGRN concentration, age, sex, diagnosis and GRN mutation were collected for 7071 individuals from 75 publications. The majority of analyses (72%) had focused on plasma PGRN concentrations, with many of these (56%) measured with a single assay type (Adipogen) and so the influence of mutation type, age at onset, sex, and diagnosis were investigated in this subset of the data. Results: We established a plasma PGRN concentration cut-off between pathogenic mutation carriers and non-carriers of 74.8 ng/mL using the Adipogen assay based on 3301 individuals, with a CSF concentration cut-off of 3.43 ng/mL. Plasma PGRN concentration varied by GRN mutation type as well as by clinical diagnosis in those without a GRN mutation. Plasma PGRN concentration was significantly higher in women than men in GRN mutation carriers (p = 0.007) with a trend in non-carriers (p = 0.062), and there was a significant but weak positive correlation with age in both GRN mutation carriers and non-carriers. No significant association was seen with weight or with TMEM106B rs1990622 genotype. However, higher plasma PGRN levels were seen in those with the GRN rs5848 CC genotype in both GRN mutation carriers and non-carriers. Conclusions: These results further support the usefulness of PGRN concentration for the identification of the large majority of pathogenic mutations in the GRN gene. Furthermore, these results highlight the importance of considering additional factors, such as mutation type, sex and age when interpreting PGRN concentrations. This will be particularly important as we enter the era of trials for progranulin-associated FTD.</p
New genetic loci link adipose and insulin biology to body fat distribution.
- Author
- Aalto Ville
- Aasarød Knut
- Abecasis Goncalo R
- Abecasis Gonçalo
- Absher Devin
- Adair Linda S
- Adam Martin
- Adeyemo Adebowale
- Ahlqvist Emma
- Ahmadi Kourosh R
- Ahola Aila
- Ainali Chrysanthi
- Akylbekova Ermeg
- Ala-Korpela Mika
- Alavere Helen
- Albagha Omar M E
- Albrecht Eva
- Alen Markku
- Alexander Myriam
- Alhenc-Gelas François
- Alizadeh Behrooz Z
- Allison Matthew A
- Alonso Nerea
- Altshuler David
- Ambite Jose Luis
- Amin Najaf
- Amouyel Philippe
- An Ping
- Anderson Carl A
- Anderson Denise
- Anderson Garnet
- Andrews Jeanette S
- Antonella Mulas
- Antti Jula
- Aragaki Aaron K
- Arking Dan E
- Arnold Alice
- Arnold Alice M
- Arora Pankaj
- Arscott Gillian M
- Artigas Maria Soler
- Arveiler Dominique
- Asiki Gershim
- Aspelund Thor
- Assimes Themistocles L
- Atalay Mustafa
- Atkinson Elizabeth J
- Aulchenko Yurii
- Avery Christy
- Bain Stephen C
- Bakker Stephan J L
- Balcells Susana
- Balkau Beverley
- Ballantyne Christie M
- Balmforth Anthony J
- Bandinelli Stefania
- Barbalic Maja
- Barrett Amy
- Barroso Ines
- Barroso Inês
- Basart Hanneke
- Basart Hanneke V
- Bataille Veronique
- Baumert Jens
- Beckmann Jacques S
- Beekman Marian
- Been Latonya F
- Beilby John
- Beilby John P
- Bell Jordana T
- Bellis Claire
- Bennett Amanda J
- Bennett Franklyn
- Berenson Gerald S
- Bergman Richard N
- Bergmann Sven
- Berndt Sonja I
- Berne Christian
- Bidulescu Aurelian
- Bielak Lawrence F
- Bierut Laura J
- Biffar Reiner
- Bis Joshua C
- Blackburn Hannah
- Blangero John
- Blankenberg Stefan S
- Blüher Matthias
- Boban Mladen
- Bochud Murielle
- Boehm Bernhard O
- Boehnke Michael
- Boerwinkle Eric
- Boezen H Marike
- Bolton Jennifer L
- Bolton Judith A Hoffman
- Bonnet Fabrice
- Bonnycastle Lori L
- Boomsma Dorret I
- Borecki Ingrid
- Boright Andrew P
- Borja Judith B
- Bornstein Stefan R
- Boston Jonathan
- Bots Michiel L
- Bouatia-Naji Nabila
- Bouchard Claude
- Bovet Pascal
- Boyd Heather A
- Bragg-Gresham Jennifer L
- Brambilla Paolo
- Brand Eva
- Brand Stefan-Martin
- Brandi Maria Luisa
- Braund Peter S
- Brennan Eoin P
- Brismar Kerstin
- Brody Jennifer
- Broekmans Frank J
- Broer Linda
- Brown Matthew A
- Brown Morris J
- Brown-Gentry Kristin
- Bruinenberg Marcel
- Buchkovich Martin L
- Buckley Brendan M
- Buil Alfonso
- Bull Shelley B
- Burgdorf Christof
- Buring Julie E
- Burnett Mary S
- Burnier Michel
- Burri Andrea
- Burton Paul R
- Bush William S
- Busonero Fabio
- Buxbaum Sarah G
- Buyske Steve
- Buzkova Petra
- Byrne Enda M
- Böger Carsten A
- Böhringer Stefan
- Böttcher Yvonne
- Cambien Francois
- Campbell Harry
- Campbell Susan
- Carba Delia B
- Carlson Chris
- Carlson Olga D
- Carty Cara
- Casas Juan P
- Caspersen Ida H
- Castano-Betancourt Martha
- Cauchi Stéphane
- Cauley Jane A
- Caulfield Mark
- Cavalieri Margherita
- Cazier Jean-Baptiste
- Center Jacqueline R
- Cesana Giancarlo
- Chakravarti Aravinda
- Chambers John
- Chandak Giriraj R
- Chang Hsing-Yi
- Chang Yen-Pei C
- Chanock Stephen J
- Charchar Fadi J
- Chasman Dan
- Chaturvedi Nish
- Chen Constance
- Chen Han
- Chen Ida
- Chen Jin
- Chen Ming-Huei
- Chen Wei
- Chen Yii-Der Ida
- Cheng Iona
- Cheng Sulin
- Chines Peter S
- Cho Yoon Shin
- Choi Murim
- Chouraki Vincent
- Christiansen Claus
- Chu Audrey Y
- Cimponeriu Dan
- Ciullo Marina
- Clark Graeme R
- Clarke Robert
- Claudi-Boehm Simone
- Coassin Stefan
- Cochran Barbara
- Cole Shelley
- Colhoun Helen
- Colhoun Helen M
- Collins Francis S
- Collins Rory
- Connell John M
- Cooper Cyrus
- Cooper Jackie A
- Cooper Matthew N
- Cooper Richard S
- Coresh Josef
- Cornelis Marilyn C
- Corre Tanguy
- Corsi Anna Maria
- Couper David
- Cousminer Diana L
- Coviello Andrea D
- Cox David
- Crawford Dana
- Crisponi Laura
- Croteau-Chonka Damien C
- Cucca Francesco
- Cummings Steven R
- Cupples Adrienne L
- Cupples L Adrienne
- Curhan Gary
- d'Adamo Pio
- Dahgam Santosh
- Dailiana Zoe
- Danesh John
- Danoy Patrick
- Dastani Zari
- Davies Gail
- Daw E Warwick
- Day Felix R
- Day Ian N M
- de Andrade Mariza
- de Boer Ian H
- de Boer Rudolf A
- de Faire Ulf
- de Geus Eco J C
- Deary Ian J
- Dedoussis George
- Dedoussis George V
- Dedoussis George V Z
- Deelen Joris
- Deelman Ewa
- Dehghan Abbas
- Delgado Graciela
- Deloukas Panagiotis
- Deloukas Panos
- Demerath Ellen W
- Demirkan Ayse
- Demirkan Ayşe
- Den Hertog Heleen M
- Denniff Matthew
- Dennison Elaine M
- Dermitzakis Emmanouil T
- Deshmukh Harshal
- Deshmukh Harshal A
- Devuyst Olivier
- di Meglio Paola
- Diemert Patrick
- Dimas Antigone S
- Dimitriou Maria
- Ding Jingzhong
- Do Ron
- Dominiczak Anna F
- Doney Alex
- Dong Yanbin
- Donnelly Louise A
- Doumatey Ayo
- Dreisbach Albert W
- Drong Alexander W
- Duggan David
- Dumitrescu Logan
- Duncan Bruce B
- Duncan Emma L
- Dupuis Josee
- Dupuis Josée
- Durbin Richard
- Durda Peter
- Döring Angela
- Dörr Marcus
- Eastell Richard
- Easton Douglas F
- Ebrahim Shah
- Econs Michael J
- Edkins Sarah
- Egan Josephine
- Ehret Georg
- Eiriksdottir Gudny
- Eisman John A
- Eklund Niina
- El Mokhtari NourEddine
- Elks Cathy E
- Ellinghaus David
- Elliott Paul
- Elosua Roberto
- Emilsson Valur
- Endlich Karlhans
- Epstein Stephen E
- Erbel Raimund
- Erdmann Jeanette
- Erdos Michael R
- Eriksson Joel
- Eriksson Johan
- Eriksson Niclas
- Eriksson Per
- Ernst Florian
- Esko Tonu
- Esko Tõnu
- Esko Tönu
- Estrada Karol
- Eury Elodie
- Evangelou Evangelos
- Evans Alun
- Evans David M
- Eyheramendy Susana
- Eyjolfsson Gudmundur Ingi
- Fagerholm Emma
- Falhammar Henrik
- Fall Tove
- Farrall Martin
- Fauser Bart C J M
- Fava Cristiano
- Feenstra Bjarke
- Fehrmann Rudolf
- Feitosa Mary
- Feranil Alan B
- Ferrannini Ele
- Ferrario Marco M
- Ferreira Teresa
- Ferreli Liana
- Ferrières Jean
- Ferrucci Luigi
- Fischer Krista
- Florez Jose C
- Folkersen Lasse
- Folsom Aaron R
- Fontanillas Pierre
- Ford Ian
- Fornage Myriam
- Foroud Tatiana
- Forouhi Nita G
- Forrester Terrence
- Forsblom Carol
- Foster Meredith C
- Fowke Jay
- Fowkes F Gerald R
- Fowkes Gerard R
- Fox Caroline S
- Fox Ervin R
- Franceschini Nora
- Franco Oscar H
- Franco-Cereceda Anders
- Franke Andre
- Franke Lude
- Franks Paul W
- Frants Rune
- Fraser Ross M
- Frayling Timothy M
- Freedman Barry I
- Freimer Nelson B
- Freitag Daniel F
- Friedrich Nele
- Froguel Philippe
- Frost Morten
- Fuchsberger Christian
- Galan Pilar
- Ganesh Santhi K
- Ganna Andrea
- Gansevoort Ron T
- Gao Xiaoyi
- Garcia Melissa
- Garcia-Giralt Natàlia
- Garnaas Maija
- Gasparini Paolo
- Gauguier Dominique
- Gaunt Tom R
- Gautvik Kaare M
- Geller Frank
- Gharavi Ali G
- Giedraitis Vilmantas
- Gieger Christian
- Gierman Hinco J
- Gigante Bruna
- Gill Geoffrey V
- Giroux Sylvie
- Giulianini Franco
- Glass Daniel
- Glazer Nicole
- Glazer Nicole L
- Glenn Kim
- Glorioso Nicola
- Go Alan S
- Go Min Jin
- Godson Catherine
- Goel Anuj
- Goessling Wolfram
- Golay Alain
- Goldstein Benjamin A
- Goltzman David
- Gong Jian
- González-Macías Jesús
- Goodall Alison H
- Goodarzi Mark O
- Goodloe Robert
- Gordin Daniel
- Gordon Scott D
- Gorski Mathias
- Grabe Hans-Jörgen
- Graff Misa
- Grallert Harald
- Grammer Tanja B
- Gravito Martha L
- Greenwood Celia M T
- Grewal Jagvir
- Grimsby Jonna
- Grobbee Diederick E
- Groop Leif
- Groop Per-Henrik
- Gross Myron
- Groves Christopher J
- Grundberg Elin
- Grässler Jürgen
- Gräßler Jürgen
- Gu Harvest F
- Gu Tianwei
- Guarrera Simonetta
- Gudbjartsson Daniel F
- Gudnason Villi
- Gudnason Vilmundur
- Guiducci Candace
- Guo Qun
- Guo Xiuqing
- Gurdasani Deepti
- Gustafsson Stefan
- Gyllensten Ulf
- Gyllensten Ulf B
- Hadjadj Samy
- Hadley David
- Haessler Jeff
- Hager Jörg
- Haiman Christopher
- Haines Jonathan
- Hall Alistair S
- Hall Per
- Hallan Stein
- Haller Toomas
- Hallmans Goran
- Hallmans Göran
- Hamsten Anders
- Han Bok-Ghee
- Hankinson Susan E
- Hanson Robert L
- Hardy Rebecca
- Haritunians Talin
- Harjutsalo Valma
- Harris Tamara
- Hartikainen Anna-Liisa
- Hartman Catharina A
- Hass Merli
- Hassanali Neelam
- Hassinen Maija
- Hastie Nicholas D
- Hastie Nick
- Hattersley Andrew T
- Haun Margot
- Havulinna Aki S
- Hayward Caroline
- Hazen Stanley L
- He Bing
- He Chunyan
- Heard-Costa Nancy L
- Heath Andrew C
- Heath Simon
- Heckbert Susan R
- Hedblad Bo
- Hedman Åsa K
- Heid Iris M
- Heikkilä Kauko
- Heikkilä Outi
- Heiss Gerardo
- Heliövaara Markku
- Helmer Catherine
- Helmer Quinta
- Henders Anjali K
- Henderson Brian
- Hengstenberg Christian
- Henneman Peter
- Hercberg Serge
- Herder Christian
- Hernandez Dena
- Hernandez Dena G
- Herrera Lizbeth
- Herzig Karl-Heinz
- Hicks Andrew A
- Hietala Kustaa
- Higashio Julia
- Hillege Hans L
- Hilton Gina
- Hindorff Lucia
- Hingorani Aroon
- Hirschhorn Joel N
- Hivert Marie-France
- Ho Weang K
- Hocking Lynne J
- Hoffmann Wolfgang
- Hofman Albert
- Holliday Elizabeth G
- Holm Hilma
- Holmen Oddgeir
- Homuth Georg
- Hopewell Jemma C
- Horikoshi Momoko
- Hosseini Mohsen
- Hottenga Jouke-Jan
- Hovingh G Kees
- Howard Philip
- Hsiung Chao Agnes
- Hsu Yi-Hsiang
- Hu Frank B
- Huang Huateng
- Huang Jinyan
- Hui Jennie
- Humphries Steve E
- Hundertmark Claudia
- Hung Yi-Jen
- Hunt Sarah E
- Hunt Steven C
- Hunter David J
- Husted Lise Bjerre
- Hveem Kristian
- Hwang Shih-Jen
- Hyppönen Elina
- Igl Wilmar
- Ikram M Arfan
- Illig Thomas
- Imboden Medea
- Ingelsson Erik
- Ingle Catherine
- Ingvarsson Thorvaldur
- Ioannidis John P A
- Iribarren Carlos
- Isaacs Aaron
- Isakova Tamara
- Islam Muhammad
- Ittermann Till
- Iwai Naoharu
- Jackson Anne U
- Jackson Rebecca
- Jacobs Gunnar
- Jafar Tazeen H
- James Alan L
- Jameson Karen A
- Jang Yangsoo
- Janipalli Charles S
- Jansen Hanneke
- Janssens A Cecile J W
- Jarvelin Marjo-Riitta
- Jeff Janina
- Jenny Nancy
- Johannsdottir Hrefna
- Johansen Berit
- Johansson Ingegerd
- Johansson Åsa
- Johnson Andrew
- Johnson Louise
- Johnson Paul C D
- Johnson Toby
- Jones Graeme
- Jones Michelle R
- Jousilahti Pekka
- Ju Sung Yun
- Jukema J Wouter
- Jula Antti
- Juliusdottir Thorhildur
- Justice Anne E
- Järvelin Marjo-Riitta
- Jöckel Karl-Heinz
- Kaakinen Marika
- Kahali Bratati
- Kalafati Ioanna-Panagiota
- Kaleebu Pontiano
- Kammerer Candace M
- Kanaya Alka
- Kang Hyun M
- Kang Hyun Min
- Kangas Antti J
- Kanoni Stavroula
- Kao Linda
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- Williams Winfred W
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- Wilsgaard Tom
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- Wilson James G
- Wilson Sarah
- Wilson Scott G
- Winkler Thomas
- Witteman Jacqueline C
- Witteman Jacqueline C M
- Wojczynski Mary K
- Wolffenbuttel Bruce H R
- Wong Andrew
- Wong Tien Y
- Woo Jean
- Wood Andrew R
- Wood Andy
- Workalemahu Tsegaselassie
- Wright Alan F
- Wu Chunyuan
- Wu Joseph M W
- Wu Ying
- Würtz Peter
- Xiao Su-Mei
- Yajnik Chittaranjan S
- Yang Jian
- Yang Qiong
- Yang Tsun-Po
- Yao Jie
- Yengo Loïc
- Yerges-Armstrong Laura M
- Young Alicia
- Young Elizabeth H
- Young J H
- Young Lauren
- Yuan Xin
- Zaboli Ghazal
- Zalloua Pierre A
- Zarrabeitia María T
- Zelenika Diana
- Zemunik Tatijana
- Zerbini Gianpaolo
- Zgaga Lina
- Zhai Guangju
- Zhang Feng
- Zhang Qunyuan
- Zhang Weihua
- Zhao Jing Hua
- Zhao Wei
- Zheng Hou-Feng
- Zheng Wei
- Zhou Yanhua
- Zhu Haidong
- Zhu Kun
- Zhu Xiaofeng
- Zhuang Wei V
- Zhuang Wei Vivian
- Ziegler Andreas
- Zillikens M Carola
- Zimmermann Martina E
- Zitting Paavo
- Zondervan Krina T
- Zukowska-Szczechowska Ewa
- Zygmunt Marek
- Ärnlöv Johan
- Österholm Anne-May
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2015
- Field of study
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms
The genetic architecture of type 2 diabetes
- Author
- Abboud Hanna E.
- Abecasis Goncalo
- Afzal Uzma
- Agarwala Vineeta
- Aguilar David
- Altshuler David
- Arya Rector
- Atzmon Gil
- Aung Tin
- Balkau Beverley
- Banks Eric
- Barroso Ines
- Barzilai Nir
- Beer Nicola L.
- Bell Graeme I.
- Below Jennifer E.
- Bergman Richard N.
- Bharadwaj Dwaipayan
- Blackwell Thomas W.
- Blancher Christine
- Blangero John
- Boehnke Michael
- Boeing Heiner
- Bonnycastle Lori L.
- Bork-Jensen Jette
- Bottinger Erwin P.
- Bowden Donald W.
- Brandslund Ivan
- Buck David
- Buck Gemma
- Burtt Noël P.
- Butterworth Adam S.
- Carey Jason
- Carneiro Mauricio O.
- Chambers John C.
- Chan Edmund
- Chan Juliana C.N.
- Chandak Giriraj R.
- Chen Han
- Chen Peng
- Chen Yuhui
- Cheng Ching-Yu
- Chia Kee Seng
- Chines Peter S.
- Cho Yoon Shin
- Christensen Cramer
- Cingolani Pablo
- Collins Francis S.
- Correa Adolfo
- Cox Nancy J.
- Curran Joanne E.
- Daly Mark J.
- Danesh John
- Day-Williams Aaron G.
- De Angelis Martin Hrabé
- DeFronzo Ralph A.
- Deloukas Panos
- DePristo Mark
- Doney Alex S.F.
- Donnelly Peter
- Duggirala Ravindranath
- Dupuis Josee
- Ebrahim Shah B.
- Elliott Paul
- Esko Tonu
- Fadista Joao
- Farjoun Yossi
- Farmer Andrew J.
- Farook Vidya S.
- Fennell Timothy
- Ferreira Teresa
- Fingerlin Tasha
- Flannick Jason
- Florez Jose C.
- Fontanillas Pierre
- Fowler Sharon P.
- Franks Paul W.
- Frayling Timothy M.
- Freedman Barry I.
- Froguel Philippe
- Fuchsberger Christian
- Gabriel Stacey
- Gamazon Eric R.
- Gaulton Kyle J.
- Giedraitis Vilmantas
- Gieger Christian
- Gjesing Anette P.
- Glaser Benjamin
- Gloyn Anna L.
- Go Min Jin
- Gottesman Omri
- Grallert Harald
- Grant George
- Grarup Niels
- Green Todd
- Griswold Michael
- Groop Leif
- Groves Christopher J.
- Hakaste Liisa
- Hale Daniel Esten
- Han Bok-Ghee
- Hanis Craig L.
- Hansen Torben
- Hartl Christopher
- Hattersley Andrew T.
- Herder Christian
- Hicks Pamela J.
- Highland Heather M.
- Hodgkiss Dylan
- Hollensted Mette
- Horikoshi Momoko
- Howson Joanna M.M.
- Hu Cheng
- Hu Frank B.
- Huang Jinyan
- Huh Iksoo
- Huth Cornelia
- Huyghe Jeroen R.
- Ikram Mohammad Kamran
- Illig Thomas
- Im Hae Kyung
- Ingelsson Erik
- Isomaa Bo
- Jablonski Kathleen A.
- Jackson Anne U.
- Jenkinson Christopher P.
- Jia Weiping
- Jorgensen Marit E.
- Jorgensen Torben
- Jun Goo
- Justesen Johanne Marie
- Kang Hyun Min
- Karpe Fredrik
- Khor Chiea-Chuen
- Kim Bong-Jo
- Kim Yongkang
- Kim Young Jin
- Kinnunen Leena
- Koistinen Heikki A.
- Kooner Jaspal Singh
- Kravic Jasmina
- Kriebel Jennifer
- Kumar Ashish
- Kumar Satish
- Kuulasmaa Teemu
- Kuusisto Johanna
- Kwak Soo-Heon
- Kwan Phoenix
- Kwon Min-Seok
- Käräjämäki Annemari
- Laakso Markku
- Ladenvall Claes
- Lam Vincent K.L.
- Lander Eric S.
- Langenberg Claudia
- Lannfelt Lars
- Lauritzen Torsten
- Lee Heung Man
- Lee Jaehoon
- Lee Jong-Young
- Lee Juyoung
- Lee Selyeong
- Lehman Donna M.
- Lehne Benjamin
- Levy Jonathan C.
- Liang Liming
- Lim Wei Yen
- Lin Keng-Han
- Lind Lars
- Lindgren Cecilia M.
- Linneberg Allan
- Liu Jianjun
- Locke Adam E.
- Loh Marie
- Loos Ruth J.F.
- Lu Yingchang
- Lyssenko Valeriya
- Ma Clement
- Ma Ronald C.W.
- Maguire Jared
- Mahajan Anubha
- Mangino Massimo
- Manning Alisa
- Maxwell Taylor J.
- McCarthy Davis J.
- McCarthy Mark I.
- McVean Gilean
- Meigs James B.
- Meisinger Christa
- Meitinger Thomas
- Melander Olle
- Metspalu Andres
- Mihailov Evelin
- Milani Lili
- Mohlke Karen L.
- Morris Andrew D.
- Morris Andrew P.
- Moutsianas Loukas
- Murphy Jacquelyn
- Musani Solomon K.
- Mägi Reedik
- Müller-Nurasyid Martina
- Nagai Yoshihiko
- Narisu Narisu
- Navarro Carmen
- Neale Benjamin M.
- Neville Matt
- Ng Maggie C.Y.
- Nilsson Peter
- Njolstad Pal Rasmus
- O'Rahilly Stephen P.
- Onofrio Robert
- Orho-Melander Marju
- Owen Katharine R.
- Palli Domenico
- Palmer Colin N.A.
- Palmer Nicholette D.
- Park Kyong Soo
- Park Taesung
- Parker Stephen C.J.
- Pasko Dorota
- Pearson Richard D.
- Pedersen Oluf
- Perry John R.B.
- Peters Annette
- Pollin Toni I.
- Poplin Ryan
- Prabhakaran Dorairaj
- Prokopenko Inga
- Puppala Sobha
- Purcell Shaun
- Qi Lu
- Qi Qibin
- Rathmann Wolfgang
- Rauramaa Rainer
- Rayner N. William
- Ried Janina S.
- Rivas Manuel A.
- Robertson Neil R.
- Roden Michael
- Rolandsson Olov
- Rosengren Anders H.
- Rybin Denis
- Saleheen Danish
- Salomaa Veikko
- Sandhu Manjinder
- Schwarzmayr Thomas
- Scott James
- Scott Laura J.
- Scott Robert A.
- Scott William R.
- Seielstad Mark
- Shakir Khalid
- Sim Xueling
- Sladek Rob
- Small Kerrin S.
- Smith Joshua D.
- So Wing Yee
- Spector Timothy D.
- Stančáková Alena
- Stirrups Kathleen
- Stitzel Michael L.
- Strauch Konstantin
- Stringham Heather M.
- Strom Tim M.
- Surdulescu Gabriela L.
- Swift Amy
- Syvänen Ann-Christine
- Tai E. Shyong
- Tajes Juan Fernandez
- Tam Claudia H.T.
- Tan Sian-Tsung
- Tandon Nikhil
- Taylor Herman A.
- Teo Yik Ying
- Teslovich Tanya M.
- Thameem Farook
- Thorand Barbara
- Thuillier Dorothée
- Trakalo Joseph
- Tuomi Tiinamaija
- Tuomilehto Jaakko
- Van De Bunt Martijn
- Van Der Schouw Yvonne T.
- Varga Tibor V.
- Voight Benjamin F.
- Walker Mark
- Wang Xu
- Wareham Nicholas J.
- Watanabe Richard M.
- Welch Ryan P.
- Wieland Thomas
- Wilson Gregory
- Wilson James G.
- Wong Tien Yin
- Wood Andrew R.
- Yengo Loic
- Yoon Joon
- Zeggini Eleftheria
- Zhang Weihua
- Zhao Wei
- Publication venue
- Publication date
- 01/01/2016
- Field of study
The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of heritability. To test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole genome sequencing in 2,657 Europeans with and without diabetes, and exome sequencing in a total of 12,940 subjects from five ancestral groups. To increase statistical power, we expanded sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support a major role for lower-frequency variants in predisposition to type 2 diabetes
The trans-ancestral genomic architecture of glycemic traits
- Author
- Abecasis Gonçalo R
- Adair Linda S
- Aguilar-Salinas Carlos Alberto
- Ahluwalia Tarunveer S
- Alarcón-Riquelme Marta E
- Amin Najaf
- An Ping
- Anasanti Mila D
- Appel Emil VR
- Arzumanyan Zorayr
- Astrup Arne
- Aviles-Santa Larissa
- Bakker Stephan JL
- Baldassarre Damiano
- Barroso Inês
- Becker Diane M
- Beekman Marian
- Beilin Lawrence J
- Bergman Richard N
- Bergmann Sven
- Bertoni Alain
- Bielak Lawrence F
- Bisgaard Hans
- Black Corri
- Blüher Matthias
- Boehnke Michael
- Boerwinkle Eric
- Bonnycastle Lori L
- Boomsma DI
- Bornstein Stefan R
- Bottinger Erwin P
- Boutin Thibaud S
- Bowden Donald W
- Brody Jennifer A
- Buchanan Thomas A
- Burtt Noël P
- Böhm Bernhard O
- Bønnelykke Klaus
- Cabrera Claudia P
- Cade Brian E
- Cai Qiuyin
- Campbell Archie
- Campbell Harry
- Canouil Mickaël
- Caulfield Mark J
- Chai Jin Fang
- Chai Xiaoran
- Chambers John C
- Chan Kei Hang Katie
- Chang Li-Ching
- Chang Yi Cheng
- Chasman Daniel I
- Chen Brian H
- Chen Chien-Hsiun
- Chen Ji
- Chen Yii-Der Ida
- Cheng Ching-Yu
- Chitrala Kumaraswamy Naidu
- Chiu Yen-Feng
- Chu Audrey Y
- Claringbould Annique
- Collins Francis S
- Corbin Laura J
- Correa Adolfo
- Cucca Francesco
- de Geus Eco JC
- de Haan Hugoline G
- de Silva H Janaka
- Dedoussis George
- Dehghan Abbas
- Delgado Graciela E
- Demirkan Ayse
- Du Shufa
- Duan Qing
- Dupuis Josée
- Eiriksdottir Gudny
- Elmståhl Sölve
- Engmann Jorgen
- Evans Michele K
- Farmaki Aliki Eleni
- Fatumo Segun A
- Ferrannini Ele
- Ferrucci Luigi
- Florez Jose C
- Franks Paul W
- Frayling Timothy M
- Froguel Philippe
- Frånberg Mattias
- Fuchsberger Christian
- Gao Yutang
- Gayán Javier
- Gigante Bruna
- Giulianini Franco
- Gjesing Anette P
- Gloyn Anna L
- Goel Anuj
- Gong Jung Ho
- Goodarzi Mark O
- Gordon-Larsen Penny
- Grallert Harald
- Grarup Niels
- Grimsgaard Sameline
- Groop Leif
- Gudnason Vilmundur
- Guo Xiuqing
- Gustafsson Stefan
- Hai Yang
- Hamsten Anders
- Han Sohee
- Hansen Torben
- Hartman Catharina A
- Hartwig Fernando P
- Hayward Caroline
- He Jing
- Heckbert Susan R
- Heianza Yoriko
- Heikkinen Jani
- Herder Christian
- Hicks Andrew A
- Hong Jaeyoung
- Horikoshi Momoko
- Horta Bernardo L
- Hottenga Jouke-Jan
- Hsieh Chang-Hsun
- Hsueh Willa A
- Huang Tao
- Huang Wei
- Huerta-Chagoya Alicia
- Huo Shaofeng
- Hwang Mi Yeong
- Ichihara Sahoko
- Igase Michiya
- Ikram M Arfan
- Ingelsson Erik
- James Pankow S
- Jarvelin Marjo-Ritta
- Jensen Richard A
- Johnson W Craig
- Jonas Jost B
- Joshi Peter K
- Jukema J Wouter
- Jørgensen Marit E
- Kaakinen Marika A
- Kaleebu Pontiano
- Kalyani Rita R
- Kandeel Fouad R
- Kaplan Robert
- Kardia Sharon LR
- Kato Norihiro
- Katsuya Tomohiro
- Kawaguchi Takahisa
- Keinanen-Kiukaanniemi Sirkka M
- Kentistou Katherine A
- Khor Chiea Chuen
- Kiess Wieland
- Kim Bong-Jo
- Kim Young Jin
- Kivimaki Mika
- Kleber Marcus E
- Koistinen Heikki A
- Kolcic Ivana
- Kooner Ishminder K
- Kooner Jaspal S
- Kovacs Peter
- Kuh Diana
- Kumari Meena
- Kutalik Zoltan
- Kuulasmaa Teemu
- Kuusisto Johanna
- Körner Antje
- Laakso Markku
- Lai Shuiqing
- Lakka Timo A
- Lam Kelvin
- Lange Leslie A
- Langefeld Carl D
- Langenberg Claudia
- Launer Lenore J
- Lauzon Marie
- Lawlor Deborah A
- Leander Karin
- Lee Nanette R
- Lemaitre Rozenn N
- Leong Aaron
- Li Honglan
- Li Huaixing
- Li Man
- Li-Gao Ruifang
- Lifelines Cohort Study
- Ligthart Symen
- Lin Shih-Yi
- Lin Xu
- Lind Lars
- Lindgren Cecilia
- Lindström Jaana
- Linneberg Allan
- Liu Ching-Ti
- Liu Jianjun
- Liu Jun
- Liu Simin
- Loh Marie
- Long Jirong
- Loos Ruth JF
- Lorenzo Carlos
- Louie Tin
- Luan Jian'an
- Lyssenko Valeriya
- Läll Kristi
- Magnusson Patrik KE
- Mahajan Anubha
- Mangino Massimo
- Marenne Gaëlle
- Marzi Carola
- Matsubara Tatsuaki
- Matsuda Fumihiko
- McCarthy Mark I
- Meigs James B
- Meta-Analysis of Glucose and Insulin-related Traits Consortium (MAGIC)
- Metspalu Andres
- Mingrone Geltrude
- Mohlke Karen L
- Montasser May E
- Mooijaart Simon
- Mook-Kanamori Dennis O
- Moon Sanghoon
- Moreno-Macias Hortensia
- Mori Trevor A
- Morris Andrew P
- Munroe Patricia B
- Mägi Reedik
- März Winfried
- Nabika Toru
- Nadkarni Girish N
- Nadler Jerry L
- Nag Abhishek
- Nakatochi Masahiro
- Ndungu Anne
- Nelis Mari
- Nelson Sarah C
- Neville Matt J
- Njølstad Inger
- Noce Damia
- Nolte Ilja M
- Noordam Raymond
- Norris Jill M
- North Kari E
- O'Connell Jeffrey R
- Ohyagi Yasumasa
- Oldehinkel Albertine J
- Ong Ken K
- Padmanabhan Sandosh
- Palmer Colin NA
- Palmer Nicholette D
- Parker Stephen CJ
- Pedersen Oluf
- Pennell Craig E
- Peters Annette
- Peyser Patricia A
- Pistis Giorgio
- Polasek Ozren
- Porteous David J
- Pramstaller Peter P
- Preuss Michael
- Prokopenko Inga
- Province Michael A
- Psaty Bruce M
- Qi Lu
- Qi Qibin
- Raffel Leslie J
- Raffield Laura
- Rasmussen-Torvik Laura J
- Raulerson Chelsea K
- Rauramaa Rainer
- Raven Dennis
- Ray Debashree
- Redline Susan
- Reilly Dermot F
- Reiner Alex
- Rich Stephen S
- Ridker Paul M
- Rivideneira Fernando
- Robertson Neil R
- Rohde Rebecca
- Roll Kathryn
- Rosendaal Frits R
- Rotter Jerome I
- Rudan Igor
- Rueedi Rico
- Ryan Kathleen
- Rybin Denis
- Saaristo Timo E
- Sabanayagam Charumathi
- Sandhu Manjinder
- Sandow Kevin
- Sanna Serena
- Saramies Jouko
- Sattar Naveed
- Saxena Richa
- Schneiderman Neil
- Schraut Katharina E
- Schurmann Claudia
- Schwarz Peter
- Schürmann Annette
- Scott Laura J
- Scott Robert A
- Selvin Elizabeth
- Sennblad Bengt
- Setoh Kazuya
- Sever Peter
- Shi Jinxiu
- Shu Xiao-Ou
- Sim Xueling
- Slagboom P Eline
- Small Kerrin S
- Smith Albert V
- Smith Blair H
- Snieder Harold
- Sofer Tamar
- Southam Lorraine
- Sparsø Thomas
- Spector Tim D
- Spracklen Cassandra N
- Stanton Alice
- Steves Claire J
- Stewart Isobel D
- Strawbridge Rona J
- Stringham Heather M
- Stumvoll Michael
- Sun Liang
- Sørensen Thorkild IA
- Tabara Yasuharu
- Tai E Shyong
- Takeuchi Fumihiko
- Tan Jingyi
- Taylor Kent D
- Teslovich Tanya M
- Thuesen Betina
- Timmers Paul RHJ
- Timpson Nicholas J
- Tremoli Elena
- Trompet Stella
- Tsai Michael Y
- Tuomilehto Jaakko
- Tusie Teresa
- Tönjes Anke
- Uitterlinden Andre
- Uusitupa Matti
- van Dam Rob M
- van den Akker Erik
- van der Harst Pim
- van der Most Peter J
- van Duijn Cornelia
- van Heemst Diana
- van Hylckama Vlieg Astrid
- van Vliet-Ostaptchouk Jana V
- Vangipurapu Jagadish
- Varshney Arushi
- Verweij Niek
- Vestergaard Henrik
- Vitart Veronique
- Vogel Mandy
- Vollenweider Peter
- Vrijkotte Tanja GM
- Waage Johannes
- Wagenknecht Lynne E
- Walker Mark
- Wang Carol A
- Wang Chaolong
- Wang Heming
- Wang Nan
- Wang Tao
- Wang Ya X
- Wang Yujie
- Wareham Nick J
- Warren Helen R
- Watanabe Richard M
- Watkins Hugh
- Wei Wen B
- Wen Wanqing
- Wheeler Eleanor
- Wickremasinghe Ananda R
- Willems van Dijk Ko
- Willems Sara M
- Willemsen Gonneke
- Wilsgaard Tom
- Wilson James F
- Wong Andrew
- Wong Tien-Yin
- Wood Andrew R
- Wu Jer-Yuarn
- Wu Peitao
- Wu Ying
- Xiang Anny H
- Xie Tian
- Yanek Lisa R
- Yao Jie
- Yengo Loïc
- Yokota Mitsuhiro
- Zafarmand Mohammad Hadi
- Zeggini Eleftheria
- Zemunik Tatijana
- Zhang Weihua
- Zhang Xiaoshuai
- Zhao Jing-Hua
- Zhao Wei
- Zheng Wei
- Zonderman Alan B
- Publication venue
- Publication date
- 01/01/2021
- Field of study
Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic health. To date, most genetic studies of glycemic traits have focused on individuals of European ancestry. Here we aggregated genome-wide association studies comprising up to 281,416 individuals without diabetes (30% non-European ancestry) for whom fasting glucose, 2-h glucose after an oral glucose challenge, glycated hemoglobin and fasting insulin data were available. Trans-ancestry and single-ancestry meta-analyses identified 242 loci (99 novel; P < 5 x 10(-8)), 80% of which had no significant evidence of between-ancestry heterogeneity. Analyses restricted to individuals of European ancestry with equivalent sample size would have led to 24 fewer new loci. Compared with single-ancestry analyses, equivalent-sized trans-ancestry fine-mapping reduced the number of estimated variants in 99% credible sets by a median of 37.5%. Genomic-feature, gene-expression and gene-set analyses revealed distinct biological signatures for each trait, highlighting different underlying biological pathways. Our results increase our understanding of diabetes pathophysiology by using trans-ancestry studies for improved power and resolution. A trans-ancestry meta-analysis of GWAS of glycemic traits in up to 281,416 individuals identifies 99 novel loci, of which one quarter was found due to the multi-ancestry approach, which also improves fine-mapping of credible variant sets.Peer reviewe
Combined searches for the production of supersymmetric top quark partners in proton-proton collisions at root s=13 TeV
- Author
- Aarrestad Thea Klaeboe
- Aarup Petersen Henriette
- Abbaneo Duccio
- Abbiendi Giovanni
- Abbrescia Marcello
- Abdalla Hassan
- Abdullin Salavat
- Abercrombie Daniel
- Abreu A.
- Acharya Himal
- Acosta Darin
- Adam Wolfgang
- Adamov George
- Adams Eric
- Adams Mark Raymond
- Adams Todd
- Addesa Francesca Maria
- Adloff Catherine
- Adzic Petar
- Afanasiev Serguei
- Agapitos Antonis
- Agarwal Garvita
- Aggleton Robin
- Agram Jean-Laurent
- Aguilar-Benitez Manuel
- Ahmad Ashfaq
- Ahmad Muhammad
- Ahmed Asar
- Ahuja Sudha
- Aime` Chiara
- Aime‘ C.
- Akchurin Nural
- Akgun Bora
- Akpinar Alp
- Albergo Sebastiano
- Albert Andreas
- Albrecht Steffen
- Albrow Michael
- Alcaraz Maestre Juan
- Aldaya Martin Maria
- Aldá Júnior Walter Luiz
- Aleksandrov Aleksandar
- Alexander James
- Alhusseini Mohammad
- Alimena Juliette
- Alison John
- Almond John
- Alpana Km
- Alvarez Gonzalez Barbara
- Alverson George
- Alves Gallo Pereira Miguel
- Alves Gilvan
- Aly Reham
- Alyari Maral
- Amapane Nicola
- Ambrozas Marijus
- Amendola Chiara
- Amin Nick
- Amram Oz
- Amsler Claude
- An Sitong
- An Ying
- Anagnostou Georgios
- Andrea Jeremy
- Andreassi Guido
- Andreev Vladimir
- Andreev Yu.
- Andreev Yuri
- Andrejkovic Janik Walter
- Andrews Michael Benjamin
- Androsov Konstantin
- Anguiano J.
- Antchev Georgy
- Anthony David
- Antunovic Zeljko
- Apollinari Giorgio
- Apparu Dylan
- Appelt Eric
- Apresyan Artur
- Apyan Aram
- Araujo Mariana
- Arcaro Daniel
- Arcidiacono Roberta
- Arenton Michael Wayne
- Argiro Stefano
- Arneodo Michele
- Aruta Caterina
- Asavapibhop Burin
- Asawatangtrakuldee Chayanit
- Asenov Patrick
- Asghar Muhammad Irfan
- Asilar Ece
- Askew Andrew
- Asmuss Paul
- Atakisi Ismail Okan
- Attikis Alexandros
- Auffray Etiennette
- Aushev Tagir
- Auzinger Georg
- Avati Valentina
- Avery Paul
- Avila Carlos
- Awais Ali
- Awan Muhammad Imran Malik
- Ayala Edy
- Ayala Gabriel
- Azarkin Maksim
- Azhgirey Igor
- Aziz Tariq
- Azzi Patrizia
- Azzurri Paolo
- Baarmand Marc M.
- Babaev Anton
- Babounikau Illia
- Bacchetta Nicola
- Bachiller Irene
- Bachtis Michail
- Backhaus Malte
- Baden A.
- Baden Drew
- Baechler Joachim
- Bagliesi Giuseppe
- Bahinipati Seema
- Baillon Paul
- Bainbridge Robert
- Bakas Georgios
- Bakhshiansohi Hamed
- Bakshi Amandeep Singh
- Baldenegro Barrera Cristian
- Ban Yong
- Band Reyer
- Bandyopadhyay Hirak
- Banerjee Sudeshna
- Banerjee Sunanda
- Bansal Sunil
- Barbagli Giuseppe
- Barberis Emanuela
- Bargassa Pedrame
- Baringer Philip
- Barnes Virgil E.
- Barney David
- Baron Owen
- Barrio Luna Mar
- Barroso Ferreira Filho Mapse
- Bartek Rachel
- Bartosik Nazar
- Bartók Márton
- Bastos Diogo
- Battilana Carlo
- Baty Austin
- Bauer Gerry
- Bauerdick Lothar A. T.
- Baxter Samuel
- Bayshev Igor
- Bean Alice
- Beauceron Stephanie
- Beaudette Florian
- Becerril Gonzalez Hugo
- Bechtel Janek
- Beghin Diego
- Behera Prafulla Kumar
- Behera Subash Chandra
- Behnke Olaf
- Bein Samuel
- Belforte Stefano
- Bell Ken W.
- Bellan Riccardo
- Belloni Alberto
- Bellora Andrea
- Belyaev Alexander
- Belyaev Andrey
- Benaglia Andrea
- Benato Lisa
- Bencze Gyorgy
- Bendavid Joshua
- Benecke Anna
- Benelli Gabriele
- Benitez Jose F.
- Benussi Luigi
- Berenguer Antequera Jorge
- Bergauer Thomas
- Berger Pirmin
- Berger Thomas
- Beri Suman Bala
- Bermúdez Martínez Armando
- Bernardes Cesar Augusto
- Bernet Colin
- Berry Douglas
- Berryhill Jeffrey
- Bertacchi Valerio
- Besancon Marc
- Bethani Agni
- Beyrouthy Taha
- Bhal Eshwen
- Bhardwaj Ashutosh
- Bharthuar Shudhashil
- Bharti Monika
- Bhat Pushpalatha C.
- Bhatnagar Vipin
- Bhattacharya Rajarshi
- Bhattacharya Saptaparna
- Bhattacharya Satyaki
- Bhattacharya Soham
- Bheesette Srinidhi
- Bhowmik Debabrata
- Bhowmik Sandeep
- Bhyun Ji Hwan
- Bi Ran
- Bialkowska Helena
- Bianchini Lorenzo
- Bianco Michele
- Bianco Stefano
- Biino Cristina
- Bilei Gian Mario
- Bilin Bugra
- Bin Anuar Afiq Aizuddin
- Bin Norjoharuddeen Nurfikri
- Bisello Dario
- Black Kevin
- Blekman Freya
- Blinov Vladimir
- Bloch Daniel
- Bloch Philippe
- Bloom Kenneth
- Bluj Michal
- Blumenfeld Barry
- Boccali Tommaso
- Bocci Andrea
- Bodek Arie
- Boimska Bozena
- Boletti Alessio
- Bologna Simone
- Bols Emil Sørensen
- Bonacorsi Daniele
- Bonanomi Matteo
- Bonham Brandon
- Bonilla Johan
- Bonomally Shameena
- Boos Edouard
- Boran Fatma
- Borg Johan
- Borgonovi Lisa
- Bornheim Adolf
- Borras Kerstin
- Borshch Vladislav
- Bortignon Pierluigi
- Bose Tulika
- Bossini Edoardo
- Botta Cristina
- Botta Valeria
- Boudoul Gaelle
- Bouhali Othmane
- Bourgatte Guillaume
- Bourilkov Dimitri
- Bozzo Marco
- Bragagnolo Alberto
- Braghieri Alessandro
- Brainerd Christopher
- Brandao Malbouisson Helena
- Brandt Stephanie
- Branson James G.
- Breedon Richard
- Breeze Shane
- Brew Christopher
- Bright-thonney Samuel
- Brigliadori Luca
- Brigljevic Vuko
- Brinkerhoff Andrew
- Brivio Francesco
- Brochero Cifuentes Javier Andres
- Brom Jean-Marie
- Brooke James John
- Brown Robert M.
- Brunner David
- Bruno Giacomo
- Bryant Patrick
- Bryson Miranda
- Brzhechko Danyyl
- Brücken Erik
- Bucci Rachael
- Buccilli Andrew
- Buchanan James
- Buchmuller Oliver
- Buchot Perraguin Axel
- Budkouski Dzmitry
- Bueghly James
- Bundock Aaron
- Bunichev Viacheslav
- Bunkowski Karol
- Buontempo Salvatore
- Burkett Kevin
- Burkle Bjorn
- Burt Kira
- Bury Florian Joel J.
- Busson Philippe
- Busza Wit
- Butalla Stephen
- Butler Joel Nathan
- Butler Philip H.
- Butz Erik
- Bylinkin Alexander
- Bylsma Ben
- Bärtschi P.
- Cabrera Andrés
- Cabrillo Iban Jose
- Cadamuro Luca
- Caillol Cécile
- Cakir Altan
- Calandri Alessandro
- Calderon De La Barca Sanchez Manuel
- Calderon Alicia
- Cali Ivan Amos
- Calligaris Luigi
- Calzaferri Simone
- Camen Camille
- Caminada Lea
- Campagnari Claudio
- Campana M.
- Campanini Renato
- Campbell Alan
- Camporesi Tiziano
- Candelise Vieri
- Canelli Maria Florencia
- Canepa Anadi
- Cankocak Kerem
- Capeans Garrido Maria
- Capiluppi Paolo
- Cappati Alessandra
- Caputo Claudio
- Caraway Bryan
- Cardini Andrea
- Cardwell Bryan
- Carle Aurélien
- Carlin Roberto
- Carnevali Francesco
- Carrera Jarrin Edgar
- Carrillo Montoya Camilo Andres
- Carrillo Moreno Salvador
- Cartiglia Nicolo
- Carvalho Antunes De Oliveira Alexandra
- Carvalho Wagner
- Casarsa Massimo
- Caspart René
- Cassese Antonio
- Castaldi Rino
- Castaneda Hernandez Alfredo
- Castilla-Valdez Heriberto
- Castro Andrea
- Cavallari Francesca
- Cavallo Francesca Romana
- Cavallo Nicola
- Cavanaugh Richard
- Ceard Ludivine
- Ceccarelli Rudy
- Cepaitis Vilius
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- White Sebastian
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- Wickramage Nadeesha
- Wickramarathna D. D. C.
- Wiedenbeck Sebastian
- Wieland Sebastian
- Wiens Lucas
- Wightman Andrew
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- Williams Justin
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- Winterbottom Daniel
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- Wolfe Evan
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- Wong Wing Yan
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- Wozniewski Sebastian
- Wright Douglas
- Wu Hsin-yeh
- Wu Zhenbin
- Wuchterl Sebastian
- Wulz Claudia-Elisabeth
- Wunsch Stefan
- Wyslouch Bolek
- Würthwein Frank
- Xiang Yifan
- Xiao Jie
- Xiao Meng
- Xiao Rui
- Xie Si
- Xie Wei
- Yagil Avraham
- Yalvac Metin
- Yan Furong
- Yan Xuli
- Yang S.
- Yang Shuai
- Yang Unki
- Yang Yu Chul
- Yao Yao
- Yarar Hevjin
- Yates Brent
- Yazgan Efe
- Ye Zhenyu
- Yetkin Elif Asli
- Yi Kai
- Yigitbasi Efe
- Yohay Rachel
- Yoo Hwi Dong
- Yoo Jaehyeok
- Yoon Inseok
- You Zhengyun
- Yu David
- Yu Geum Bong
- Yu Intae
- Yu Pei-rong
- Yu Shin-Shan
- Yuan Li
- Yuan Siqi
- Yuldashev Bekhzod S.
- Yumiceva Francisco
- Yusli Mohd Nizam
- Zabi Alexandre
- Zacharopoulou Anna
- Zahid Sema
- Zaleski Shawn
- Zalewski Piotr
- Zanetti Marco
- Zarubin Anatoli
- Zarucki Mateusz
- Zecchinelli Angelo Giacomo
- Zeinali Maryam
- Zeuner Wolfram Dietrich
- Zghiche Amina
- Zhang Fengwangdong
- Zhang Huaqiao
- Zhang Jingyu
- Zhang Liuyao
- Zhang Sijing
- Zhang Wenyu
- Zhang Yi
- Zhang Yousen
- Zhang Zhicai
- Zhao Jingzhou
- Zhizhin Ilia
- Zhokin Alexander
- Zhu De Hua
- Zhu Ren-Yuan
- Ziemons Tim Matthias
- Zoi Irene
- Zolkapli Zukhaimira
- Zorbakir Ibrahim Soner
- Zorbilmez Caglar
- Zotto Pierluigi
- Zou David
- Zou Rui
- Zucchetta Alberto
- Zumerle Gianni
- Zuo Xunwu
- Zuolo Davide
- Zygala Lara
- Álvarez Fernández Adrian
- Özçelik Özlem
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2020
- Field of study
A combination of searches for top squark pair production using proton-proton collision data at a center-of-mass energy of 13 TeV at the CERN LHC, corresponding to an integrated luminosity of 137 fb(-1) collected by the CMS experiment, is presented. Signatures with at least 2 jets and large missing transverse momentum are categorized into events with 0, 1, or 2 leptons. New results for regions of parameter space where the kinematical properties of top squark pair production and top quark pair production are very similar are presented. Depending on themodel, the combined result excludes a top squarkmass up to 1325 GeV for amassless neutralino, and a neutralinomass up to 700 GeV for a top squarkmass of 1150 GeV. Top squarks with masses from 145 to 295 GeV, for neutralino masses from 0 to 100 GeV, with a mass difference between the top squark and the neutralino in a window of 30 GeV around the mass of the top quark, are excluded for the first time with CMS data. The results of theses searches are also interpreted in an alternative signal model of dark matter production via a spin-0 mediator in association with a top quark pair. Upper limits are set on the cross section for mediator particle masses of up to 420 GeV
Search for new particles in events with energetic jets and large missing transverse momentum in proton-proton collisions at root s=13 TeV
- Author
- Aarrestad Thea Klaeboe
- Aarup Petersen Henriette
- Abbaneo Duccio
- Abbiendi Giovanni
- Abbrescia Marcello
- Abdullin Salavat
- Abercrombie Daniel
- Abreu A.
- Acharya Himal
- Acosta Darin
- Adam Wolfgang
- Adamidis K.
- Adams Eric
- Adams Mark Raymond
- Adams Todd
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- Xiang Yifan
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- Yang Shuai
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- Yates Brent
- Yazgan Efe
- Ye Zhenyu
- Yetkin Elif Asli
- Yi Kai
- Yigitbasi Efe
- Yohay Rachel
- Yoo Hwi Dong
- Yoo Jaehyeok
- Yoon Inseok
- You Zhengyun
- Yu David
- Yu Geum Bong
- Yu Intae
- Yu Pei-rong
- Yu Shin-Shan
- Yuan Li
- Yuan Siqi
- Yuldashev Bekhzod S
- Yumiceva Francisco
- Yusli Mohd Nizam
- Zabi Alexandre
- Zacharopoulou Anna
- Zahid Sema
- Zaleski Shawn
- Zalewski Piotr
- Zanetti Marco
- Zarubin Anatoli
- Zarucki Mateusz
- Zecchinelli Angelo Giacomo
- Zeinali Maryam
- Zeuner Wolfram Dietrich
- Zghiche Amina
- Zhang Fengwangdong
- Zhang Huaqiao
- Zhang Jingyu
- Zhang Liuyao
- Zhang Wenyu
- Zhang Yi
- Zhang Yousen
- Zhang Zhicai
- Zhao Jingzhou
- Zhizhin Ilia
- Zhokin Alexander
- Zhu De Hua
- Zhu Ren-Yuan
- Ziemons Tim
- Zoi Irene
- Zolkapli Zukhaimira
- Zorbakir Ibrahim Soner
- Zorbilmez Caglar
- Zotto Pierluigi
- Zotz Alexander
- Zou David
- Zou Rui
- Zucchetta Alberto
- Zumerle Gianni
- Zuo Xunwu
- Zuolo Davide
- Zygala Lara
- Álvarez Fernández Adrian
- Özçelik Özlem
- Publication venue
- Publication date
- 01/01/2021
- Field of study
A search is presented for new particles produced at the LHC in proton-proton collisions at root s = 13 TeV, using events with energetic jets and large missing transverse momentum. The analysis is based on a data sample corresponding to an integrated luminosity of 101 fb(-1), collected in 2017-2018 with the CMS detector. Machine learning techniques are used to define separate categories for events with narrow jets from initial-state radiation and events with large-radius jets consistent with a hadronic decay of a W or Z boson. A statistical combination is made with an earlier search based on a data sample of 36 fb(-1), collected in 2016. No significant excess of events is observed with respect to the standard model background expectation determined from control samples in data. The results are interpreted in terms of limits on the branching fraction of an invisible decay of the Higgs boson, as well as constraints on simplified models of dark matter, on first-generation scalar leptoquarks decaying to quarks and neutrinos, and on models with large extra dimensions. Several of the new limits, specifically for spin-1 dark matter mediators, pseudoscalar mediators, colored mediators, and leptoquarks, are the most restrictive to date.Peer reviewe
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