15 research outputs found
Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations
- Author
- Alessandro M Cazzola
- Alessandro M Vannucchi
- Anthony R Green
- Anthony R Skoda
- Carles Besses
- Carles Ruggeri
- Chiara Elena
- Chiara Passamonti
- Christina A François Lehmann
- Christina A Ortmann
- Cristiana Pascutto
- Cristiana Pietra
- Daniela Ortmann
- Daniela Pietra
- Elisa Gisslinger
- Elisa Rumi
- Eric Lippert
- Eric Vannucchi
- Francesco Besses
- Francesco Passamonti
- François Girodon
- Green
- Heinz Gisslinger
- Heinz Lippert
- Jean-Jacques Girodon
- Jean-Jacques Kiladjian
- Marco Mcmullin
- Marco Ruggeri
- Mario Cazzola
- Mario Haferlach
- Mary Frances Kiladjian
- Mary Frances Mcmullin
- Radek C Schnittger
- Radek C Skoda
- Susanne Elena
- Susanne Schnittger
- Thomas Lehmann
- Thomas Rumi
- Torsten Haferlach
- Torsten Pascutto
- Publication venue
- Publication date
- 23/04/2020
- Field of study
Identification of additional risk loci for stroke and small vessel disease: a meta-analysis of genome-wide association studies
- Author
- Adams Hieab H. H.
- Allen Norrina B.
- Aparicio Hugo J.
- Arnett Donna K.
- Arnold Corey R.
- Bartz Traci M.
- Beiser Alexa
- Bellenguez Céline
- Benavente Oscar R.
- Bennett David A.
- Berr Claudine
- Bevan Steve
- Bis Joshua C.
- Boncoraglio Giorgio B.
- Buring Julie E.
- Carlsson Peter
- Chasman Daniel I.
- Chauhan Ganesh
- Childs Sarah J.
- Choi Seung Hoan
- Chu Audrey Y.
- Clarke Robert
- Cole John W.
- Dallongeville Jean
- Dartigues Jean-François
- de Craen Anton J. M.
- De Jager Philip L.
- Debette Stéphanie
- Deelen Joris
- den Hoed Marcel
- deStefano Anita L.
- Dichgans Martin
- Engelter Stefan T.
- Ford Ian
- Fornage Myriam
- French Curtis R.
- Garcia Melissa E.
- Gottesman Rebecca F.
- Grabe Hans Jörgen
- Grewal Raji P.
- Griswold Michael E.
- Gudnason Vilmundur
- Gustafsson Stefan
- Hamsten Anders
- Harris Tamara B.
- Havulinna Aki S.
- Heckbert Susan R.
- Hofman Albert
- Hopewell Jemma C.
- Ikram M. Arfan
- Ingelsson Erik
- Jern Christina
- Jian Xueqiu
- Jimenez-Conde Jordi
- Johnson Andrew D.
- Johnson Julie A.
- Jukema J. Wouter
- Kamatani Yoichiro
- Kjartansson Olafur
- Kloss Manja
- Knopman David S.
- Koudstaal Peter J.
- Kurth Tobias
- Lannfelt Lars
- Lathrop Mark
- Launer Lenore J.
- Lee Jin-Moo
- Lehmann Ordan J.
- Levi Christopher
- Leys Didier
- Lindgren Arne
- Lindgren Cecilia M.
- Lindgren Lars
- Liu Yongmei
- Longstreth William T.
- Lopez Oscar L.
- Magnusson Patrik K.
- Malik Rainer
- Manichaikul Ani
- Markus Hugh S.
- Markus Marcello Ricardo Paulista
- Melander Olle
- Meschia James
- Montaner Joan
- Morris Andrew P.
- Mosley Thomas H.
- Nalls Michael A.
- Nik Ali Moussavi
- Pastinen Tomi
- Pedersen Nancy L.
- Pezzini Alessandro
- Portegies Marileen L. P.
- Psaty Bruce M.
- Pulit Sara L.
- Radmanesh Farid
- Rexrode Kathryn M.
- Reyahi Azadeh
- Rice Kenneth
- Rich Stephen S.
- Ridker Paul M.
- Ripatti Samuli
- Rosand Jonathan
- Rothwell Peter M.
- Rotter Jerome I.
- Rundek Tatjana
- Sacco Ralph L.
- Sale Michele M.
- Salomaa Veikko
- Sargurupremraj Muralidharan
- Satizabal Claudia L.
- Schmidt Carsten Oliver
- Schmidt Reinhold
- Schminke Ulf
- Seshadri Sudha
- Sharma Pankaj
- Slowik Agnieszka
- Smith Albert Vernon
- Smith Nicholas L.
- Stott David J.
- Sudlow Cathie LM
- Teumer Alexander
- Thijs Vincent
- Traylor Matthew
- Trompet Stella
- Tzourio Christophe
- Uitterlinden André G.
- van Duijn Cornelia M.
- Vartiainen Erkki
- Vidal Jean Sebastien
- Wassertheil-Smoller Sylvia
- White Charles C.
- Wiggins Kerri L.
- Windham B. Gwen
- Wong Quenna
- Woo Daniel
- Worrall Bradford B.
- Xue Flora
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2016
- Field of study
BACKGROUND:
Genetic determinants of stroke, the leading neurological cause of death and disability, are poorly understood and have seldom been explored in the general population. Our aim was to identify additional loci for stroke by doing a meta-analysis of genome-wide association studies.
METHODS:
For the discovery sample, we did a genome-wide analysis of common genetic variants associated with incident stroke risk in 18 population-based cohorts comprising 84 961 participants, of whom 4348 had stroke. Stroke diagnosis was ascertained and validated by the study investigators. Mean age at stroke ranged from 45·8 years to 76·4 years, and data collection in the studies took place between 1948 and 2013. We did validation analyses for variants yielding a significant association (at p<5 × 10(-6)) with all-stroke, ischaemic stroke, cardioembolic ischaemic stroke, or non-cardioembolic ischaemic stroke in the largest available cross-sectional studies (70 804 participants, of whom 19 816 had stroke). Summary-level results of discovery and follow-up stages were combined using inverse-variance weighted fixed-effects meta-analysis, and in-silico lookups were done in stroke subtypes. For genome-wide significant findings (at p<5 × 10(-8)), we explored associations with additional cerebrovascular phenotypes and did functional experiments using conditional (inducible) deletion of the probable causal gene in mice. We also studied the expression of orthologs of this probable causal gene and its effects on cerebral vasculature in zebrafish mutants.
FINDINGS:
We replicated seven of eight known loci associated with risk for ischaemic stroke, and identified a novel locus at chromosome 6p25 (rs12204590, near FOXF2) associated with risk of all-stroke (odds ratio [OR] 1·08, 95% CI 1·05-1·12, p=1·48 × 10(-8); minor allele frequency 21%). The rs12204590 stroke risk allele was also associated with increased MRI-defined burden of white matter hyperintensity-a marker of cerebral small vessel disease-in stroke-free adults (n=21 079; p=0·0025). Consistently, young patients (aged 2-32 years) with segmental deletions of FOXF2 showed an extensive burden of white matter hyperintensity. Deletion of Foxf2 in adult mice resulted in cerebral infarction, reactive gliosis, and microhaemorrhage. The orthologs of FOXF2 in zebrafish (foxf2b and foxf2a) are expressed in brain pericytes and mutant foxf2b(-/-) cerebral vessels show decreased smooth muscle cell and pericyte coverage.
INTERPRETATION:
We identified common variants near FOXF2 that are associated with increased stroke susceptibility. Epidemiological and experimental data suggest that FOXF2 mediates this association, potentially via differentiation defects of cerebral vascular mural cells. Further expression studies in appropriate human tissues, and further functional experiments with long follow-up periods are needed to fully understand the underlying mechanisms
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
- Author
- Aalfs C.M. (Cora)
- Adenis C. (Claude)
- Adlard J.W. (Julian)
- Agata S. (Simona)
- Agnarsson B.A. (Bjarni)
- Aittomäki K. (Kristiina)
- Andersen M.K. (Mette)
- Andrulis I.L. (Irene)
- Angelakos M. (Maggie)
- Antoniou A.C. (Antonis)
- Ardern-Jones A. (Audrey)
- Ardnor C.E. (Christina Edwinsdotter)
- Arnold N. (Norbert)
- Arun B.K. (Banu)
- Arver B. (Brita Wasteson)
- Asperen C.J. (Christi) van
- Attard V. (Virginia)
- Ausems M.G.E.M. (Margreet)
- Bacot F. (Francois)
- Bae-Jump V.L. (Victoria L.)
- Balmana J. (Judith)
- Bancroft E.K. (Elizabeth)
- Bardsley C. (Cathryn)
- Barjhoux L. (Laure)
- Barkardottir R.B. (Rosa)
- Barouk-Simonet E. (Emmanuelle)
- Barrowdale D. (Daniel)
- Barton D.E. (David)
- Barwell J. (Julian)
- Beattie M.S. (Mary)
- Belotti M. (Muriel)
- Benítez J. (Javier)
- Berlin C. (Cheryl)
- Berthet P. (Pascaline)
- Bignon Y.-J. (Yves-Jean)
- Bignon Y.-J. (Yves-Jean)
- Blanco I. (Ignacio)
- Blank S.V. (Stephanie)
- Blok M.J. (Marinus)
- Bock G.H. (Geertruida) de
- Bonadona V. (Valérie)
- Bonnani B. (Bernardo)
- Bonnet F. (Françoise)
- Borg Å. (Åke)
- Bourdon V. (Violaine)
- Bradshaw N. (Nicola)
- Brady A.F. (Angela)
- Bressac-de Paillerets B. (Brigitte)
- Brewer C. (C.)
- Brewer C. (Carole)
- Brice G. (Glen)
- Bronner M. (Myriam)
- Brunet J. (Joan)
- Bubien V. (Virginie)
- Buecher B. (Bruno)
- Bustinza G.B.
- Buys S.S. (Saundra)
- Caldes T. (Trinidad)
- Calender A. (Alain)
- Caligo M.A. (Maria)
- Campbell I. (Ian)
- Caron O. (Olivier)
- Castera L. (Laurent)
- Castro E. (Elena)
- Chan S. (Salina)
- Chenevix-Trench G. (Georgia)
- Chiquette J. (Jocelyne)
- Chung W.K. (Wendy)
- Claber O. (Oonagh)
- Claes K. (Kathleen)
- Cohn D.E. (David)
- Colas C. (Chrystelle)
- Cole T.J. (Trevor)
- Collier R. (Rebecca)
- Collée J.M. (Margriet)
- Cook J. (Jackie)
- Coron F. (Fanny)
- Couch F.J. (Fergus)
- Coulet F. (Florence)
- Coupier I. (Isabelle)
- Crawford G. (Gabe)
- Cronenburg T.C.T.E.F. van
- Cunningham J. (Jane)
- Daly M.B. (Mary)
- Damiola F. (Francesca)
- Damiola F. (Francesca)
- Davidson R. (Rosemarie)
- Deissler H. (Helmut)
- Delnatte C.D. (Capucine)
- Demange L. (Liliane)
- Dennis J. (Joe)
- Deurzen C.H.M. (Carolien) van
- Devilee P. (Peter)
- Devilee P. (Peter)
- Dicks E. (Ed)
- Diez O. (Orland)
- Ding Y.C. (Yuan)
- Dite G.S. (Gillian)
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- Domchek S.M. (Susan)
- Donaldson A. (Alan)
- Dorfling C.M. (Cecelia)
- Dorkins H. (Huw)
- Douglas F. (Fiona)
- Douglas F. (Fiona)
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- Dunning A.M. (Alison)
- Durda K. (Katarzyna)
- Durell S. (Sarah)
- Durán M. (Mercedes)
- Eason J. (Jacqueline)
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- Eddy C. (Charlotte)
- Eeles R. (Rosalind)
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- Einbeigi Z. (Zakaria)
- Eisinger F. (François)
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- Engert S. (Stefanie)
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- Fricker J.P. (Jean Pierre)
- Friebel M.O.W. (Mark )
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- Gómez García E.B. (Encarna)
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- hardouin A. (Agnès)
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- Healey S. (Sue)
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- Moeller S.T. (Sanne Traasdahl)
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- Olah E.
- Olopade O.I. (Olofunmilayo)
- Olsson H.
- Olswold C. (Curtis)
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- Oosterwijk J.C. (Jan)
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- Os T.A.M. (Theo) van
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- Osorio A. (Ana)
- Ottini L. (Laura)
- Ouweland A.M.W. (Ans) van den
- Ozcelik H. (Hilmi)
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- Pankratz V.S. (Shane)
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- Pastinen T. (Tomi)
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- Pedersen I.S. (Inge Sokilde)
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- Peyrat J.-P.
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- Stoppa-Lyonnet D. (Dominique)
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- Tea M.-K.
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- Verhoef S.
- Verhoef S. (S.)
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- Vijai J. (Joseph)
- Vincent D. (Daniel)
- Volorio S. (Sara)
- Vénat-Bouvet L. (Laurence)
- Wachenfeldt A. (Anna) von
- Waisfisz Q. (Quinten)
- Walker L.J. (Lisa)
- Walsh C.S. (Christine)
- Wang C. (Chen)
- Wang X. (Xianshu)
- Wapenschmidt B. (Barbara)
- Watt C. (Catherine)
- Weaver J. (JoEllen)
- Weber B.H.F. (Bernhard)
- Weitzel J.N. (Jeffrey)
- Wiggins J. (Jennifer)
- Wijnen J.T. (Juul)
- Wijnen J.T. (Juul)
- Winchester L. (Lizzie)
- Yannoukakos D. (Drakoulis)
- Złowocka-Perłowska E. (Elzbieta)
- Öfverholm A. (Anna)
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- 15/04/2013
- Field of study
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
- Author
- Aalfs Cora M.
- Aaltonen Kirsimari
- Adenis Claude
- Adlard Julian
- Agnarsson Bjarni A.
- Aittomäki Kristiina
- Alonso Rosario
- Amadori Alberto
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- Del Valle Jesús
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- OTTINI LAURA
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- Peysselon Magalie
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- Pohlreich Petr
- Porteous Mary E.
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- Pujol Pascal
- Pye Carole
- Quarrell Oliver
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- Rantala Johanna
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- Rea Gillian
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- Rhiem Kerstin
- Robson Mark
- Rocha Patrícia
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- Tirapo Carole
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- Toland Amanda Ewart
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- Tommasi Stefania
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- van Cronenburg T. C. T. E. F.
- van den Ouweland Ans M. W.
- van der Hout A. H.
- van der Luijt Rob B.
- van Deurzen C. H. M.
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- van Leeuwen Flora E.
- van Os T. A. M.
- van Rensburg Elizabeth J.
- van Roozendaal Kees E. P.
- Varesco Liliana
- Varon Mateeva Raymonda
- Vasen H. F.
- Vaszko Tibor
- Vennin Philippe
- Verhoef S.
- Verny Pierre Carole
- Viel Alessandra
- Vijai Joseph
- von Wachenfeldt Anna
- Vénat Bouvet Laurence
- Waisfisz Q.
- Walker Lisa
- Wang Gohrke Shan
- Wappenschmidt Barbara
- Watt Catherine
- Weaver Jo Ellen
- Weitzel Jeffrey N.
- Wiggins Jennifer
- Wijnands R.
- Wijnen J. T.
- Winchester Lizzie
- Wozniak Eva
- Yannoukakos Drakoulis
- Zaffaroni Daniela
- Zidan Jamal
- Zikan Michal
- Zvocec Cecilia
- Öfverholm Anna
- Publication venue
- Publication date
- 01/01/2015
- Field of study
Introduction: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. Methods: We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. Results: We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. Conclusions: This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects.Peer reviewe
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
- Abbott-Ozersky Amanda
- Abdellah Zahra
- Abouelleil Amr
- Abrajano Anne
- Adachi Tamami
- Adam Catherine
- Adams Charles Q.
- Adamson Aaron
- Adekoya Emmanuel
- Adio-Oduola Babajide
- Aerts Andrea
- Aggarwal Arun
- Ahmadi Alireza
- Ahmed Shahana
- Aimable Matthew
- Ainscough Rachael
- Ait-Zahra Mostafa
- Aizu Tomoyuki
- Alcivare Dana
- Alegria Michelle
- Ali Alla
- Ali Johar
- Allegria-hartmann Michelle
- Alleman Jennifer
- Allen Carlana C.
- Allen Heather
- Allen Nicole R.
- Allen Susan
- Allen Thaddeus
- Almeida Jeff
- Almond Claire
- Alsbrooks Stephen L.
- Altherr Michael R.
- Amaratunge Harshinie C.
- Ambler Andrew
- Ambrose Karen
- Ambrose Kerrie
- Amemiya Chris
- Amico-Keller Gina
- Amin Amita G.
- Anderson Mechele
- Anderson Scott
- Anderson Scott
- Andora Janice
- Andredesz Carol
- Andrew Robert
- Andrews Dan
- Andrews Daniel
- Andrews Neil
- Andrews Stephanie
- Andriese Tim
- Anthouard Véronique
- Antonarakis Stylianos E.
- Anyalebechi Vivian
- Aoki Norie
- Apostolou Sinoula
- Apweiler Eva
- Arachchi Harindra
- Arai Rie
- Arbery Hazel
- Arcaina Marlon
- Arcaina Terisita
- Archer Beth
- Arellano Andre
- Arellano-Jones Perry
- Armbruster Jeff
- Armstrong Jon
- Arredondo Dilrukshi P.
- Arredondo Heather Hope
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- Eastham Emma
- Eastham Timothy
- Eaves Kristy A.
- Eckenberg Ralph
- Edgar Darren
- Edionwe Susan Omwanghe Osayanro
- Edwards Carol
- Edwards Jennifer
- Edwards Karen
- Egan Amy
- Eichler Evan
- Eichler Evan
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- Elkin Chris
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- Elliot Jeffrey
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- Emberson Becky
- Emelianenko Natalia
- Emery-Cohen Alexandra J.
- Endrizzi Matthew
- Engh Ger van den
- Engle David
- Erickson Jeffery
- Erler Anne Marie
- Errington Helen
- Escobar Julio
- Escotto Michael
- Eugene Craig S.
- Evans Gareth
- Evans John
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- Evans Richard
- Eveleth Gerald
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- Fan Hongyuan
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- Fernando Pushpa Ranjani
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- Footman Simon
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- Ford Amanda F.
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- Fujiyama Asao
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- Fuller Liam
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- Fullerton Kathryn
- Fulton Lucinda A.
- Fulton Robert S.
- Furey Terrence S.
- Furuhashi Mie
- Förste Silke
- Gabisi Abdul M.
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- Garcia Ricardo M, III
- Garcia-Martinez Antonio
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- Garnes Jeffrey A.
- Garnett Jane
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- Han Guiqing
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- Hancock Julie
- Harbes Brandy A.
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- Hillyard Guy
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- Hitchens Matthew Edward
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- Hodgson David
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- Idlebird Devincent G.
- Iliev Ilian
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- Imo Kelvin C.
- Inacio Nicole
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- Ince Michael
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- Krawczyk Marie-Claude
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- Kube Michael
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- Woyke Tanja
- Wray Matthew
- Wray Paul
- Wright Charmain
- Wright Debbie
- Wright Kathrine
- Wright Kristin
- Wright Rita A.
- Wu Chungen
- Wu Dongying
- Wu Jiaqian
- Wu Jung-Rung
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- Wu Qingfa
- Wu Qingfa
- Wu Ruiming
- Wu Xiao
- Wu Xiaojing
- Wu Zaining
- Wyatt Julia
- Wycoff-Montenegro Melissa
- Wylie Kris
- Wyman Dudley
- Wyman Stacia
- Xi Yan
- Xi Yingying
- Xie Fei
- Xie Gary
- Xie Jane
- Xiong Hui
- Xiong Yuqing
- Xu Alex
- Xu Jing
- Xu Jing
- Xu Ruqin
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- Xu Wei
- Xu Xinlai
- Xu Yan
- Xu Yuning
- Xu Zhihong
- Xu Zuyuan
- Xuan Yali
- Xuan Zhenyu
- Xue Rui
- Yada Tetsushi
- Yadav Shailendra
- Yakub Syed
- Yamamoto Lynn
- Yamamoto Noriko
- Yamamoto Yuko
- Yamashita Yasue
- Yamazaki Satoru
- Yang Hao
- Yang Huanming
- Yang Huanming
- Yang Joan
- Yang Shiaw-Pyng
- Yang Shudong
- Yang Xiaonan
- Yang Xiaonan
- Yang Xiaoping
- Yang Yongkui
- Yano Candance
- Yao Zhijian
- Yao Zhijian
- Yaspo Marie-Laure
- Ye Chen
- Yeager Shane
- Yeh Mimi
- Yen Jennifer
- Yeshitela Rahel Retta
- Yoakum Martin
- Yokobata Kathy
- Yokoyama Jennifer
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- Younger Ruth
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- Yu Jun
- Yu Jun
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- Yuan Yida
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- Yun Rui
- Zainoun Joanne
- Zembeck Lisa
- Zeng Yixin
- Zhai Dong
- Zhan Guoping
- Zhang Bo
- Zhang Caimin
- Zhang Fengmei
- Zhang Guangyu
- Zhang Guohua
- Zhang Guohua
- Zhang Haiqing
- Zhang Haiqing
- Zhang Haiqing
- Zhang Hongbo
- Zhang Hongbo
- Zhang Jingjing
- Zhang Jingjing
- Zhang Jingkun
- Zhang Jiuchun
- Zhang Jiuchun
- Zhang Lanzhi
- Zhang Li
- Zhang Li
- Zhang Meihua
- Zhang Meng
- Zhang Ming
- Zhang Qing
- Zhang Ruhua
- Zhang Shaojie
- Zhang Tiezhen
- Zhang Wei
- Zhang Wei
- Zhang Xianglin
- Zhang Xianglin
- Zhang Xiaoliang
- Zhang Xiuqing
- Zhang Yan
- Zhang Yi
- Zhang Yilin
- Zhang Yilin
- Zhang Ying
- Zhang Yuansen
- Zhang Yuzhi
- Zhang Zhengdong
- Zhao Hongmei
- Zhao Lijian
- Zhao Shenru
- Zhao Zhijing
- Zhen Zhicheng
- Zheng Haibo
- Zhong Ming
- Zhou Carol
- Zhou Haixia
- Zhou Jianling
- Zhou Nannan
- Zhou Xinfeng
- Zhou Yan
- Zhou Yang
- Zhou Yi
- Zhu Bingying
- Zhu Bofeng
- Zhu Fenghua
- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
Global variations in diabetes mellitus based on fasting glucose and haemogloblin A1c
- Author
- Abbasi-Kangevari Mohsen
- Abdul Rahim Hanan F.
- Abu-Rmeileh Niveen M.
- Adambekov Shalkar
- Adams Robert J.
- Aekplakorn Wichai
- Agdeppa Imelda A.
- Aghazadeh-Attari Javad
- Aguilar-Salinas Carlos A.
- Agyemang Charles
- Ahmad Noor Ani
- Ahmadi Ali
- Ahmadi Naser
- Ahmadi Nastaran
- Ahmed Soheir H.
- Ajlouni Kamel
- Al Asfoor Deena
- Al Qaoud Nawal M.
- Al-Hina Halima
- Al-Lahou Badreya
- Al-Lawati Jawad A.
- Alarouj Monira
- AlBuhairan Fadia
- AlDhukair Shahla
- Aldwairji Maryam A.
- Ali Mohamed M.
- Alinezhad Farbod
- Alkandari Abdullah
- Alomirah Husam F.
- Aly Eman
- Amarapurkar Deepak N.
- Andersen Lars Bo
- Anderssen Sigmund A.
- Andrade Dolores S.
- Anjana Ranjit Mohan
- Ansari-Moghaddam Alireza
- Aounallah-Skhiri Hajer
- Aris Tahir
- Arlappa Nimmathota
- Aryal Krishna K.
- Assah Felix K.
- Assembekov Batyrbek
- Auvinen Juha
- Avdičová Mária
- Azad Kishwar
- Azimi-Nezhad Mohsen
- Azizi Fereidoun
- Bacopoulou Flora
- Balakrishna Nagalla
- Bamoshmoosh Mohamed
- Banach Maciej
- Bandosz Piotr
- Banegas José R.
- Bao Tran Quoc
- Barbagallo Carlo M.
- Barceló Alberto
- Baretić Maja
- Barrera Lena
- Basit Abdul
- Batieha Anwar M.
- Batista Aline P.
- Baur Louise A.
- Belavendra Antonisamy
- Benchekor Sounnia Mediene
- Benet Mikhail
- Bennett James E.
- Berkinbayev Salim
- Bernabe- Ortiz Antonio
- Berrios Carrasola Ximena
- Bettiol Heloísa
- Beybey Augustin F.
- Bhargava Santosh K.
- Bika Lele Elysée Claude
- Bikbov Mukharram M.
- Bista Bihungum
- Bjerregaard Peter
- Bjertness Espen
- Bjertness Marius B.
- Björkelund Cecilia
- Bloch Katia V.
- Blokstra Anneke
- Bo Simona
- Bobak Martin
- Boggia Jose G.
- Bonaccio Marialaura
- Bonilla-Vargas Alice
- Borghs Herman
- Bovet Pascal
- Brajkovich Imperia
- Brenner Hermann
- Brewster Lizzy M.
- Brian Garry R.
- Briceño Yajaira
- Brito Miguel
- Bugge Anna
- Buntinx Frank
- Cabrera de León Antonio
- Caixeta Roberta B.
- Can Günay
- Capanzana Mario V.
- Capuano Eduardo
- Capuano Rocco
- Capuano Vincenzo
- Cardoso Viviane C.
- Carlsson Axel C.
- Carrillo-Larco Rodrigo M.
- Casanueva Felipe F.
- Censi Laura
- Cervantes‐Loaiza Marvin
- Chamnan Parinya
- Chamukuttan Snehalatha
- Chan Queenie
- Charchar Fadi J.
- Chaturvedi Nish
- Chen Huashuai
- Cheraghian Bahman
- Chirlaque María-Dolores
- Chudek Jerzy
- Cifkova Renata
- Cirillo Massimo
- Claessens Frank
- Cohen Emmanuel
- Concin Hans
- Cooper Cyrus
- Costanzo Simona
- Cowan Melanie J.
- Cowell Chris
- Crujeiras Ana B.
- Cruz Juan J.
- Cureau Felipe V.
- Cuschieri Sarah
- Cândido Ana Paula C.
- Dallongeville Jean
- Damasceno Albertino
- Danaei Goodarz
- Dastgiri Saeed
- Davletov Kairat
- De Curtis Amalia
- de Gaetano Giovanni
- De Henauw Stefaan
- Deepa Mohan
- DeGennaro Vincent Jr
- Demarest Stefaan
- Dennison Elaine
- Deschamps Valérie
- Dhimal Meghnath
- Dika Zivka
- Djalalinia Shirin
- Donfrancesco Chiara
- Dong Guanghui
- Dorobantu Maria
- dos Santos Henrique Rafael
- Dragano Nico
- Drygas Wojciech
- Du Yong
- Duante Charmaine A.
- Duboz Priscilla
- Dushpanova Anar
- Dziankowska-Zaborszczyk Elzbieta
- Dörr Marcus
- D’Arrigo Graziella
- d’Orsi Eleonora
- Ebrahimi Narges
- Eddie Ricky
- Eftekhar Ebrahim
- Efthymiou Vasiliki
- Egbagbe Eruke E.
- Eghtesad Sareh
- El Ati Jalila
- El-Khateeb Mohammad
- Eldemire-Shearer Denise
- Elosua Roberto
- Enang Ofem
- Erasmus Rajiv T.
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- Woodward Mark
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- Xu Haiquan
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- Yaacob Nor Azwany
- Yan Li
- Yan Weili
- Yoosefi Moein
- Yoshihara Akihiro
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- Yu Yu-Ling
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- Yusoff Ahmad Faudzi
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- Zamani Farhad
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- Zeljkovic Vrkic Tajana
- Zeng Yi
- Zhang Zhen-Yu
- Zholdin Bekbolat
- Zhou Bin
- Zimmet Paul
- Zitt Emanuel
- Zuñiga Cisneros Julio
- Čapková Naděžda
- Šalaj Sanja
- Publication venue
- Nature Publishing Group
- Publication date
- 01/01/2023
- Field of study
Fasting plasma glucose (FPG) and haemoglobin A1c (HbA1c) are both used to diagnose
diabetes, but may identify different people as having diabetes. We used data from 117
population-based studies and quantified, in different world regions, the prevalence of
diagnosed diabetes, and whether those who were previously undiagnosed and detected
as having diabetes in survey screening had elevated FPG, HbA1c, or both. We developed
prediction equations for estimating the probability that a person without previously
diagnosed diabetes, and at a specific level of FPG, had elevated HbA1c, and vice versa.
The age-standardised proportion of diabetes that was previously undiagnosed, and
detected in survey screening, ranged from 30% in the high-income western region to 66%
in south Asia. Among those with screen-detected diabetes with either test, the agestandardised
proportion who had elevated levels of both FPG and HbA1c was 29-39%
across regions; the remainder had discordant elevation of FPG or HbA1c. In most low- and
middle-income regions, isolated elevated HbA1c more common than isolated elevated
FPG. In these regions, the use of FPG alone may delay diabetes diagnosis and
underestimate diabetes prevalence. Our prediction equations help allocate finite
resources for measuring HbA1c to reduce the global gap in diabetes diagnosis and
surveillance.peer-reviewe
Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations
- Author
- Alessandro M. Vannucchi
- Anthony R. Green
- Barosi
- Butcher
- Carles Besses
- Cazzola
- Chiara Elena
- Christina A. Ortmann
- Cristiana Pascutto
- Daniela Pietra
- Elisa Rumi
- Eric Lippert
- Francesco Passamonti
- François Girodon
- Heinz Gisslinger
- Jean-Jacques Kiladjian
- Jones
- Jones
- Kilpivaara
- Kralovics
- Lakey
- Lasho
- Li
- Marco Ruggeri
- Mario Cazzola
- Martinez-Aviles
- Mary Frances McMullin
- Olcaydu
- Olcaydu
- Pardanani
- Passamonti
- Passamonti
- Passamonti
- Percy
- Pietra
- Radek C. Skoda
- Schnittger
- Scott
- Susanne Schnittger
- Thiele
- Thomas Lehmann
- Torsten Haferlach
- Ugo
- Vannucchi
- Williams
- Publication venue
- 'American Society of Hematology'
- Publication date
- 01/01/2011
- Field of study
Although approximately 95% of patients with polycythemia vera (PV) harbor the V617F mutation in JAK2 exon 14, several mutations in exon 12 have been described in the remaining patients. We conducted a European collaborative study to define the molecular and clinical features of patients harboring these mutations. Overall, 106 PVs were recruited and 17 different mutations identified. Irrespective of the mutation, two-thirds of patients had isolated erythrocytosis, whereas the remaining subjects had erythrocytosis plus leukocytosis and/or thrombocytosis. Compared with JAK2 (V617F)-positive PV patients, those with exon 12 mutations had significantly higher hemoglobin level and lower platelet and leukocyte counts at diagnosis but similar incidences of thrombosis, myelofibrosis, leukemia, and death. In a multivariable analysis, age more than 60 years and prior thrombosis predicted thrombosis. These findings suggest that, despite the phenotypical difference, the outcome of JAK2 exon 12 mutations-positive PV is similar to that of JAK2 (V617F)-positive PV
Age-Dependent Astroglial Vulnerability to Hypoxia and Glutamate: The Role for Erythropoietin
- Author
- A Almeida
- A Castegna
- A Schousboe
- A Takeda
- AB Abdel-Mageed
- AC Yu
- Ali Lourhmati
- B Hamprecht
- Barbara Proksch
- C Lehmann
- C Toth
- Christina Paul
- Christoph H. Gleiter
- E Masliah
- E Miyamoto
- E Morishita
- F Li
- François Blachier
- G Tholey
- Gayane H. Buniatian
- GH Buniatian
- GH Buniatian
- H Ehrenreich
- H Parfenova
- J Albrecht
- J Brettschneider
- J Liu
- J Mojsilovic-Petrovic
- J Sambrook
- J Zou
- JK Sandhu
- K Iqbal
- K Mawatari
- K Wakida
- L Danielyan
- L Danielyan
- Lusine Danielyan
- M Dallas
- Marine Buadze
- Matthias Schwab
- MI Assaraf
- MS Parihar
- N Byts
- OI Ndubuizu
- OO Ogunshola
- PK Sher
- PT Tsai
- R Kumar
- Reinhild Buecheler
- S Juul
- S Kobayashi
- S Masuda
- S Sá Santos
- S Tilleux
- SS Kannurpatti
- Stephan Verleysdonk
- T Rabie
- W Maret
- W Zhang
- X Wang
- Y Zhang
- Z Arabpoor
- ZZ Chong
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- Field of study
Global variation in diabetes diagnosis and prevalence based on fasting glucose and hemoglobin A1c
- Author
- Abbasi-Kangevari Mohsen
- Abu-Rmeileh Niveen, M
- Adambekov Shalkar
- Adams Robert, J
- Aekplakorn Wichai
- Agdeppa Imelda, A
- Aghazadeh-Attari Javad
- Aguilar-Salinas Carlos, A
- Agyemang Charles
- Ahmad Noor Ani
- Ahmadi Ali
- Ahmadi Naser
- Ahmadi Nastaran
- Ahmed Soheir, H
- Ajlouni Kamel
- Al Qaoud Nawal, M
- Al-Hinai Halima
- Al-Lahou Badreya
- Al-Lawati Jawad, A
- Alarouj Monira
- Albuhairan Fadia
- Aldhukair Shahla
- Aldwairji Maryam, A
- Ali Mohamed, M
- Alinezhad Farbod
- Alkandari Abdullah
- Alomirah Husam, F
- Aly Eman
- Amarapurkar Deepak, N
- Andersen Lars Bo
- Anderssen Sigmund, A
- Andrade Dolores, S
- Anjana Ranjit Mohan
- Ansari-Moghaddam Alireza
- Aounallah-Skhiri Hajer
- Aris Tahir
- Arlappa Nimmathota
- Aryal Krishna, K
- Asfoor Deena Al
- Assah Felix, K
- Assembekov Batyrbek
- Auvinen Juha
- Avdičová Mária
- Azad Kishwar
- Azimi-Nezhad Mohsen
- Azizi Fereidoun
- Bacopoulou Flora
- Balakrishna Nagalla
- Bamoshmoosh Mohamed
- Banach Maciej
- Bandosz Piotr
- Banegas José, R
- Barbagallo Carlo, M
- Barceló Alberto
- Baretić Maja
- Barrera Lena
- Basit Abdul
- Batieha Anwar, M
- Batista Aline, P
- Baur Louise, A
- Belavendra Antonisamy
- Ben Romdhane Habiba
- Benet Mikhail
- Bennett James, E
- Berkinbayev Salim
- Bernabe-Ortiz Antonio
- Berrios Carrasola Ximena
- Bettiol Heloísa
- Beybey Augustin, F
- Bhargava Santosh, K
- Bika Lele Elysée Claude
- Bikbov Mukharram, M
- Bista Bihungum
- Bjerregaard Peter
- Bjertness Espen
- Bjertness Marius, B
- Björkelund Cecilia
- Bloch Katia, V
- Blokstra Anneke
- Bo Simona
- Bobak Martin
- Boggia Jose, G
- Bonaccio Marialaura
- Bonilla-Vargas Alice
- Borghs Herman
- Bovet Pascal
- Brajkovich Imperia
- Brenner Hermann
- Brewster Lizzy, M
- Brian Garry, R
- Briceño Yajaira
- Brito Miguel
- Bugge Anna
- Buntinx Frank
- Cabrera de León Antonio
- Caixeta Roberta, B
- Can Günay
- Capanzana Mario, V
- Capuano Eduardo
- Capuano Rocco
- Capuano Vincenzo
- Cardoso Viviane, C
- Carlsson Axel, C
- Carrillo-Larco Rodrigo, M
- Casanueva Felipe, F
- Censi Laura
- Cervantes-Loaiza Marvin
- Chamnan Parinya
- Chamukuttan Snehalatha
- Chan Queenie
- Charchar Fadi, J
- Chaturvedi Nish
- Chen Huashuai
- Cheraghian Bahman
- Chirlaque María-Dolores
- Chudek Jerzy
- Cifkova Renata
- Cirillo Massimo
- Claessens Frank
- Cohen Emmanuel
- Concin Hans
- Cooper Cyrus
- Costanzo Simona
- Cowan Melanie, J
- Cowell Chris
- Crujeiras Ana, B
- Cruz Juan, J
- Cureau Felipe, V
- Cuschieri Sarah
- Cândido Ana Paula C.
- Dallongeville Jean
- Damasceno Albertino
- Danaei Goodarz
- Dastgiri Saeed
- Davletov Kairat
- de Curtis Amalia
- de Gaetano Giovanni
- de Henauw Stefaan
- Deepa Mohan
- Degennaro Vincent
- Demarest Stefaan
- Dennison Elaine
- Deschamps Valérie
- Dhimal Meghnath
- Dika Zivka
- Djalalinia Shirin
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- Viswanathan Bharathi
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- Wan Bebakar Wan Mohamad
- Wan Mohamud Wan Nazaimoon
- Wang Chongjian
- Wang Ningli
- Wang Qian
- Wang Ya Xing
- Wang Ying-Wei
- Wannamethee S. Goya
- Webster-Kerr Karen
- Wedderkopp Niels
- Wei Wenbin
- Westbury Leo, D
- Whincup Peter, H
- Widhalm Kurt
- Widyahening Indah, S
- Wilks Rainford, J
- Willeit Johann
- Willeit Peter
- Wilsgaard Tom
- Więcek Andrzej
- Wojtyniak Bogdan
- Wong Andrew
- Wong Emily, B
- Woodward Mark
- Wu Frederick, C
- Xu Haiquan
- Xu Liang
- Yaacob Nor Azwany
- Yan Li
- Yan Weili
- Yoosefi Moein
- Yoshihara Akihiro
- Younger-Coleman Novie, O
- Yu Yu-Ling
- Yu Yunjiang
- Yusoff Ahmad Faudzi
- Zainuddin Ahmad, A
- Zamani Farhad
- Zambon Sabina
- Zampelas Antonis
- Zaw Ko Ko
- Zdrojewski Tomasz
- Zeljkovic Vrkic Tajana
- Zeng Yi
- Zhang Zhen-Yu
- Zholdin Bekbolat
- Zhou Bin
- Zimmet Paul
- Zitt Emanuel
- Zoghlami Nada
- Zuñiga Cisneros Julio
- Čapková Naděžda
- Šalaj Sanja
- Publication venue
- Nature Publishing Group
- Publication date
- 09/11/2023
- Field of study
International audienceAbstract Fasting plasma glucose (FPG) and hemoglobin A1c (HbA1c) are both used to diagnose diabetes, but these measurements can identify different people as having diabetes. We used data from 117 population-based studies and quantified, in different world regions, the prevalence of diagnosed diabetes, and whether those who were previously undiagnosed and detected as having diabetes in survey screening, had elevated FPG, HbA1c or both. We developed prediction equations for estimating the probability that a person without previously diagnosed diabetes, and at a specific level of FPG, had elevated HbA1c, and vice versa. The age-standardized proportion of diabetes that was previously undiagnosed and detected in survey screening ranged from 30% in the high-income western region to 66% in south Asia. Among those with screen-detected diabetes with either test, the age-standardized proportion who had elevated levels of both FPG and HbA1c was 29–39% across regions; the remainder had discordant elevation of FPG or HbA1c. In most low- and middle-income regions, isolated elevated HbA1c was more common than isolated elevated FPG. In these regions, the use of FPG alone may delay diabetes diagnosis and underestimate diabetes prevalence. Our prediction equations help allocate finite resources for measuring HbA1c to reduce the global shortfall in diabetes diagnosis and surveillance
Global variation in diabetes diagnosis and prevalence based on fasting glucose and hemoglobin A1c
- Author
- Abbasi-Kangevari Mohsen
- Abu-Rmeileh Niveen M.
- Adambekov Shalkar
- Adams Robert J.
- Aekplakorn Wichai
- Agdeppa Imelda A.
- Aghazadeh-Attari Javad
- Aguilar-Salinas Carlos A.
- Agyemang Charles
- Ahmad Noor Ani
- Ahmadi Ali
- Ahmadi Naser
- Ahmadi Nastaran
- Ahmed Soheir H.
- Ajlouni Kamel
- Al Qaoud Nawal M.
- Al-Hinai Halima
- Al-Lahou Badreya
- Al-Lawati Jawad A.
- Alarouj Monira
- AlBuhairan Fadia
- AlDhukair Shahla
- Aldwairji Maryam A.
- Ali Mohamed M.
- Alinezhad Farbod
- Alkandari Abdullah
- Alomirah Husam F.
- Aly Eman
- Amarapurkar Deepak N.
- Andersen Lars Bo
- Anderssen Sigmund A.
- Andrade Dolores S.
- Anjana Ranjit Mohan
- Ansari-Moghaddam Alireza
- Aounallah-Skhiri Hajer
- Aris Tahir
- Arlappa Nimmathota
- Aryal Krishna K.
- Asfoor Deena Al
- Assah Felix K.
- Assembekov Batyrbek
- Auvinen Juha
- Avdičová Mária
- Azad Kishwar
- Azimi-Nezhad Mohsen
- Azizi Fereidoun
- Bacopoulou Flora
- Balakrishna Nagalla
- Bamoshmoosh Mohamed
- Banach Maciej
- Bandosz Piotr
- Banegas José R.
- Barbagallo Carlo M.
- Barceló Alberto
- Baretić Maja
- Barrera Lena
- Basit Abdul
- Batieha Anwar M.
- Batista Aline P.
- Baur Louise A.
- Belavendra Antonisamy
- Ben Romdhane Habiba
- Benet Mikhail
- Bennett James E.
- Berkinbayev Salim
- Bernabe-Ortiz Antonio
- Berrios Carrasola Ximena
- Bettiol Heloísa
- Beybey Augustin F.
- Bhargava Santosh K.
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- Bikbov Mukharram M.
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- Bjertness Marius B.
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- Bloch Katia V.
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- Bo Simona
- Bobak Martin
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- Bonaccio Marialaura
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- Borghs Herman
- Bovet Pascal
- Brajkovich Imperia
- Brenner Hermann
- Brewster Lizzy M.
- Brian Garry R.
- Briceño Yajaira
- Brito Miguel
- Bugge Anna
- Buntinx Frank
- Cabrera de León Antonio
- Caixeta Roberta B.
- Can Günay
- Capanzana Mario V.
- Capuano Eduardo
- Capuano Rocco
- Capuano Vincenzo
- Cardoso Viviane C.
- Carlsson Axel C.
- Carrillo-Larco Rodrigo M.
- Casanueva Felipe F.
- Censi Laura
- Cervantes‐Loaiza Marvin
- Chamnan Parinya
- Chamukuttan Snehalatha
- Chan Queenie
- Charchar Fadi J.
- Chaturvedi Nish
- Chen Huashuai
- Cheraghian Bahman
- Chirlaque María-Dolores
- Chudek Jerzy
- Cifkova Renata
- Cirillo Massimo
- Claessens Frank
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- Cooper Cyrus
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- Crujeiras Ana B.
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- Cuschieri Sarah
- Cândido Ana Paula C.
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- Damasceno Albertino
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- Davletov Kairat
- De Curtis Amalia
- de Gaetano Giovanni
- De Henauw Stefaan
- Deepa Mohan
- DeGennaro Vincent
- Demarest Stefaan
- Dennison Elaine
- Deschamps Valérie
- Dhimal Meghnath
- Dika Zivka
- Djalalinia Shirin
- Donfrancesco Chiara
- Dong Guanghui
- Dorobantu Maria
- Dragano Nico
- Drygas Wojciech
- Du Yong
- Duante Charmaine A.
- Duboz Priscilla
- Dushpanova Anar
- Dziankowska-Zaborszczyk Elzbieta
- Dörr Marcus
- D’Arrigo Graziella
- d’Orsi Eleonora
- Ebrahimi Narges
- Eddie Ricky
- Eftekhar Ebrahim
- Efthymiou Vasiliki
- Egbagbe Eruke E.
- Eghtesad Sareh
- El Ati Jalila
- El-Khateeb Mohammad
- Eldemire-Shearer Denise
- Elosua Roberto
- Enang Ofem
- Erasmus Rajiv T.
- Erbel Raimund
- Erem Cihangir
- Ergor Gul
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- Fawwad Asher
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- Ferguson Trevor S.
- Fernández-Bergés Daniel
- Ferrari Marika
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- Forsner Maria
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- Gaciong Zbigniew
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- Ghamari Seyyed-Hadi
- Ghanbari Ali
- Ghasemi Erfan
- Gheorghe-Fronea Oana-Florentina
- Ghimire Anup
- Gialluisi Alessandro
- Giampaoli Simona
- Gianfagna Francesco
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- Gironella Glen
- Giwercman Aleksander
- Goltzman David
- Gomula Aleksandra
- Gonzalez Angel R.
- Gonzalez-Chica David A.
- Gonzalez-Gross Marcela
- González-Rivas Juan P.
- González-Villalpando Clicerio
- González-Villalpando María-Elena
- Gonçalves Helen
- Gonçalves Mauer
- Gottrand Frederic
- Grafnetter Dušan
- Gregg Edward W.
- Grodzicki Tomasz
- Grøntved Anders
- Guerrero Ramiro
- Gujral Unjali P.
- Gupta Rajeev
- Gutierrez Laura
- Gwee Xinyi
- Haghshenas Rosa
- Hakimi Hamid
- Hambleton Ian R.
- Hamzeh Behrooz
- Hanekom Willem A.
- Hange Dominique
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- Hao Jie
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- Mohan Viswanathan
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- Nejatizadeh Azim
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- Viswanathan Bharathi
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- Willeit Peter
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- Więcek Andrzej
- Wojtyniak Bogdan
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- Wu Frederick C.
- Xu Haiquan
- Xu Liang
- Yaacob Nor Azwany
- Yan Li
- Yan Weili
- Yoosefi Moein
- Yoshihara Akihiro
- Younger-Coleman Novie O.
- Yu Yu-Ling
- Yu Yunjiang
- Yusoff Ahmad Faudzi
- Zainuddin Ahmad A.
- Zamani Farhad
- Zambon Sabina
- Zampelas Antonis
- Zaw Ko Ko
- Zdrojewski Tomasz
- Zeljkovic Vrkic Tajana
- Zeng Yi
- Zhang Zhen-Yu
- Zholdin Bekbolat
- Zhou Bin
- Zimmet Paul
- Zitt Emanuel
- Zoghlami Nada
- Zuñiga Cisneros Julio
- Čapková Naděžda
- Šalaj Sanja
- Publication venue
- Publication date
- 01/01/2023
- Field of study
: Fasting plasma glucose (FPG) and hemoglobin A1c (HbA1c) are both used to diagnose diabetes, but these measurements can identify different people as having diabetes. We used data from 117 population-based studies and quantified, in different world regions, the prevalence of diagnosed diabetes, and whether those who were previously undiagnosed and detected as having diabetes in survey screening, had elevated FPG, HbA1c or both. We developed prediction equations for estimating the probability that a person without previously diagnosed diabetes, and at a specific level of FPG, had elevated HbA1c, and vice versa. The age-standardized proportion of diabetes that was previously undiagnosed and detected in survey screening ranged from 30% in the high-income western region to 66% in south Asia. Among those with screen-detected diabetes with either test, the age-standardized proportion who had elevated levels of both FPG and HbA1c was 29-39% across regions; the remainder had discordant elevation of FPG or HbA1c. In most low- and middle-income regions, isolated elevated HbA1c was more common than isolated elevated FPG. In these regions, the use of FPG alone may delay diabetes diagnosis and underestimate diabetes prevalence. Our prediction equations help allocate finite resources for measuring HbA1c to reduce the global shortfall in diabetes diagnosis and surveillance