10 research outputs found
Cerebrospinal fluid and MRI biomarkers in neurodegenerative diseases:a retrospective memory clinic-based study
- Author
- Publication venue
- 'IOS Press'
- Publication date
- 01/01/2020
- Field of study
Abstract
Background: Cerebrospinal fluid (CSF) and magnetic resonance imaging (MRI) biomarkers of neurodegenerative diseases are relatively sensitive and specific in highly curated research cohorts, but proper validation for clinical use is mostly missing.
Objective: We studied these biomarkers in a novel memory clinic cohort with a variety of different neurodegenerative diseases.
Methods: This study consisted of 191 patients with subjective or objective cognitive impairment who underwent neurological, CSF biomarker (AÎČ42, p-tau, and tau) and T1-weighted MRI examinations at Kuopio University Hospital. We assessed CSF and imaging biomarkers, including structural MRI focused on volumetric and cortical thickness analyses, across groups stratified based on different clinical diagnoses, including Alzheimerâs disease (AD), frontotemporal dementia, dementia with Lewy bodies, Parkinsonâs disease, vascular dementia, and mild cognitive impairment (MCI), and subjects with no evidence of neurodegenerative disease underlying the cognitive symptoms. Imaging biomarkers were also studied by profiling subjects according to the novel amyloid, tau, and, neurodegeneration (AT(N)) classification.
Results: Numerous imaging variables differed by clinical diagnosis, including hippocampal, amygdalar and inferior lateral ventricular volumes and entorhinal, lingual, inferior parietal and isthmus cingulate cortical thicknesses, at a false discovery rate (FDR)-corrected threshold for significance (analysis of covariance; pâ<â0.005). In volumetric comparisons by AT(N) profile, hippocampal volume significantly differed (pâ<â0.001) between patients with normal AD biomarkers and patients with amyloid pathology.
Conclusion: Our analysis suggests that CSF and MRI biomarkers function well also in clinical practice across multiple clinical diagnostic groups in addition to AD, MCI, and cognitively normal groups
A novel genetic marker for the C9orf72 repeat expansion in the Finnish population
- Author
- Publication venue
- 'IOS Press'
- Publication date
- 01/01/2021
- Field of study
Abstract
Background: C9orf72 repeat expansion (C9exp) is the most common genetic cause underlying frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). However, detection of the C9exprequires elaborative methods.
Objective: Identification of C9exp carriers from genotyped cohorts could be facilitated by using single nucleotide polymorphisms (SNPs) as markers for the C9exp.
Methods: We elucidated the potential of the previously described Finnish risk haplotype, defined by the SNP rs3849942, to identify potential C9exp carriers among 218,792 Finns using the FinnGen database. The haplotype approach was first tested in an idiopathic normal pressure hydrocephalus (iNPH) patient cohort (European Alzheimerâs Disease DNA BioBank) containing C9exp carriers by comparing intermediate (15â30) and full-length (> 60 repeats) C9exp carriers (n = 41) to C9exp negative patients (< 15 repeats, n = 801).
Results: In this analysis, rs3849942 was associated with carriership of C9exp (OR 8.44, p < 2 Ă 10â15), while the strongest association was found with rs139185008 (OR 39.4, p < 5 Ă 10â18). Unbiased analysis of rs139185008 in FinnGen showed the strongest association with FTLD (OR 4.38, 3 Ă 10â15) and motor neuron disease ALS (OR 5.19, 3 Ă 10â21). rs139185008 was the top SNP in all diseases (iNPH, FTLD, ALS), and further showed a strong association with ALS in the UK Biobank (p = 9.0 Ă 10â8).
Conclusions: Our findings suggest that rs139185008 is a useful marker to identify potential C9exp carriers in the genotyped cohorts and biobanks originating from Finland
FinnGen provides genetic insights from a well-phenotyped isolated population.
- Author
- Aalto-SetÀlÀ Katriina
- Aavikko Mervi
- Alasoo Kaur
- Arvas Mikko
- Auro Kirsi
- Biswas Shameek
- Bizaki-Vallaskangas Argyro
- Carpen Olli
- Chen Chia-Yen
- Dada Oluwaseun A
- Daly Mark J
- Della Briotta Parolo Pietro
- Ding Zhihao
- Donner Kati M
- Ehm Margaret G
- Eklund Kari
- Elnahas Abdelrahman G
- Esko TÔnu
- FinnGen
- Finucane Hilary
- Foley Christopher N
- Fox Caroline
- FÀrkkilÀ Martti
- Ganna Andrea
- Ghazal Awaisa
- Gracia-Tabuenca Javier
- Graham Robert R
- Green Eric M
- Hakanen Antti
- Hautalahti Marco
- Havulinna Aki S
- Hedman Ă sa K
- Heyne Henrike O
- Hiekkalinna Tero
- Hiltunen Mikko
- Hinttala Reetta
- Hovatta Iiris
- Hu Xinli
- Huertas-Vazquez Adriana
- Huilaja Laura
- Hunkapiller Julie
- Jacob Howard
- Jalanko Anu
- Jensen Jan-Nygaard
- Joensuu Heikki
- John Sally
- Julkunen Valtteri
- Jung Marc
- Junttila Juhani
- Kaarniranta Kai
- Kajanne Risto
- Kallio Lila
- Kanai Masahiro
- Kaprio Jaakko
- Karjalainen Juha
- Kaunisto Mari A
- Kerimov Nurlan
- Kettunen Johannes
- Kiiskinen Tuomo
- KilpelÀinen Elina
- Kilpi Terhi
- Klinger Katherine
- Koskelainen Sami
- Kosma Veli-Matti
- Kristiansson Kati
- Kuopio Teijo
- Kurki Mitja I
- Kurra Venla
- KÀhönen Mika
- KÀlviÀinen Reetta
- Lahtela Elisa
- Laiho PĂ€ivi
- Laisk Triin
- Laitinen Tarja
- Laivuori Hannele
- Laukkanen Jari
- Lawless Nathan
- Lehisto Arto A
- LemmelÀ Susanna
- Liu Aoxing
- Llorens Vincent
- Longerich Simonne
- Loukola Anu
- Malarstig Anders
- Mannermaa Arto
- Maranville Joseph
- Mars Nina
- Matakidou Athena
- Mattsson Hannele
- McCarthy Mark
- Meretoja Tuomo
- Metspalu Andres
- Milani Lili
- Mozaffari Sahar V
- MĂ€gi Reedik
- MÀkelÀ Johanna
- MÀkelÀ Tomi P
- MĂ€kitie Antti
- Nelis Mari
- Niemi Mari EK
- Niemi Marianna
- Niiranen Teemu
- O Donnell Christopher J
- Obeidat Ma En
- Okafo George
- Ollila Hanna M
- Paajanen Teemu
- PalomÀki Antti
- Palotie Aarno
- Palotie Tuula
- Palta Priit
- Partanen Jukka
- Paul Dirk S
- Pelkonen Margit
- Pendergrass Rion K
- Perola Markus
- Petrovski Slavé
- PitkÀranta Anne
- Platt Adam
- Plenge Robert
- Pulford David
- Punkka Eero
- Pussinen Pirkko
- PĂ€rn Kalle
- Raghavan Neha
- Rahimov Fedik
- Rajpal Deepak
- Reeve Mary P
- Reigo Anu
- Reis Kadri
- Renaud Nicole A
- Riley-Gillis Bridget
- Ripatti Samuli
- Rodosthenous Rodosthenis
- Runz Heiko
- Ruotsalainen Sanni
- RÀmö Joel
- RĂŒeger Sina
- Saarentaus Elmo
- Salminen Aino
- Salminen Eveliina
- Salomaa Veikko
- Schleutker Johanna
- Serpi Raisa
- Shen Huei-Yi
- Siegel Richard
- Siirtola Harri
- Silander Kaisa
- Siltanen Sanna
- SipilÀ Timo P
- Soini Sirpa
- Soininen Hilkka
- Sul Jae Hoon
- Sun Benjamin
- Tachmazidou Ioanna
- Tasanen Kaisa
- Tienari Pentti
- Toppila-Salmi Sanna
- Tukiainen Taru
- Tuomi Tiinamaija
- Turunen Joni A
- Ulirsch Jacob C
- Vaura Felix
- Veerapen Kumar
- Virolainen Petri
- Waring Jeffrey
- Waterworth Dawn
- Yang Robert
- Zhou Wei
- Publication venue
- Nature
- Publication date
- 01/01/2023
- Field of study
Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1%ââ€âminor allele frequencyâ<â5%). These variants survived the founding bottleneck rather than being distributed over a large number of ultrarare variants. Although this effect is well established in Mendelian genetics, its value in common disease genetics is less explored1,2. FinnGen aims to study the genome and national health register data of 500,000 Finnish individuals. Given the relatively high median age of participants (63âyears) and the substantial fraction of hospital-based recruitment, FinnGen is enriched for disease end points. Here we analyse data from 224,737 participants from FinnGen and study 15 diseases that have previously been investigated in large genome-wide association studies (GWASs). We also include meta-analyses of biobank data from Estonia and the United Kingdom. We identified 30 new associations, primarily low-frequency variants, enriched in the Finnish population. A GWAS of 1,932 diseases also identified 2,733 genome-wide significant associations (893 phenome-wide significant (PWS), Pâ<â2.6âĂâ10-11) at 2,496 (771 PWS) independent loci with 807 (247 PWS) end points. Among these, fine-mapping implicated 148 (73 PWS) coding variants associated with 83 (42 PWS) end points. Moreover, 91 (47 PWS) had an allele frequency of <5% in non-Finnish European individuals, of which 62 (32 PWS) were enriched by more than twofold in Finland. These findings demonstrate the power of bottlenecked populations to find entry points into the biology of common diseases through low-frequency, high impact variants
Recommended from our members
Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population.
- Author
- Aalto-SetÀlÀ Katriina
- Aavikko Mervi
- Alasoo Kaur
- Arvas Mikko
- Auro Kirsi
- Biswas Shameek
- Bizaki-Vallaskangas Argyro
- Carpen Olli
- Chen Chia-Yen
- Dada Oluwaseun A
- Daly Mark J
- Della Briotta Parolo Pietro
- Ding Zhihao
- Donner Kati M
- Ehm Margaret G
- Eklund Kari
- Elnahas Abdelrahman G
- Esko TÔnu
- FinnGen
- Finucane Hilary
- Foley Christopher N
- Fox Caroline
- FÀrkkilÀ Martti
- Ganna Andrea
- Ghazal Awaisa
- Gracia-Tabuenca Javier
- Graham Robert R
- Green Eric M
- Hakanen Antti
- Hautalahti Marco
- Havulinna Aki S
- Hedman Ă sa K
- Heyne Henrike O
- Hiekkalinna Tero
- Hiltunen Mikko
- Hinttala Reetta
- Hovatta Iiris
- Hu Xinli
- Huertas-Vazquez Adriana
- Huilaja Laura
- Hunkapiller Julie
- Jacob Howard
- Jalanko Anu
- Jensen Jan-Nygaard
- Joensuu Heikki
- John Sally
- Julkunen Valtteri
- Jung Marc
- Junttila Juhani
- Kaarniranta Kai
- Kajanne Risto
- Kallio Lila
- Kanai Masahiro
- Kaprio Jaakko
- Karjalainen Juha
- Kaunisto Mari A
- Kerimov Nurlan
- Kettunen Johannes
- Kiiskinen Tuomo
- KilpelÀinen Elina
- Kilpi Terhi
- Klinger Katherine
- Koskelainen Sami
- Kosma Veli-Matti
- Kristiansson Kati
- Kuopio Teijo
- Kurki Mitja I
- Kurra Venla
- KÀhönen Mika
- KÀlviÀinen Reetta
- Lahtela Elisa
- Laiho PĂ€ivi
- Laisk Triin
- Laitinen Tarja
- Laivuori Hannele
- Laukkanen Jari
- Lawless Nathan
- Lehisto Arto A
- LemmelÀ Susanna
- Liu Aoxing
- Llorens Vincent
- Longerich Simonne
- Loukola Anu
- Malarstig Anders
- Mannermaa Arto
- Maranville Joseph
- Mars Nina
- Matakidou Athena
- Mattsson Hannele
- McCarthy Mark
- Meretoja Tuomo
- Metspalu Andres
- Milani Lili
- Mozaffari Sahar V
- MĂ€gi Reedik
- MÀkelÀ Johanna
- MÀkelÀ Tomi P
- MĂ€kitie Antti
- Nelis Mari
- Niemi Mari EK
- Niemi Marianna
- Niiranen Teemu
- O Donnell Christopher J
- Obeidat Ma En
- Okafo George
- Ollila Hanna M
- Paajanen Teemu
- PalomÀki Antti
- Palotie Aarno
- Palotie Tuula
- Palta Priit
- Partanen Jukka
- Paul Dirk S
- Pelkonen Margit
- Pendergrass Rion K
- Perola Markus
- Petrovski Slavé
- PitkÀranta Anne
- Platt Adam
- Plenge Robert
- Pulford David
- Punkka Eero
- Pussinen Pirkko
- PĂ€rn Kalle
- Raghavan Neha
- Rahimov Fedik
- Rajpal Deepak
- Reeve Mary P
- Reigo Anu
- Reis Kadri
- Renaud Nicole A
- Riley-Gillis Bridget
- Ripatti Samuli
- Rodosthenous Rodosthenis
- Runz Heiko
- Ruotsalainen Sanni
- RÀmö Joel
- RĂŒeger Sina
- Saarentaus Elmo
- Salminen Aino
- Salminen Eveliina
- Salomaa Veikko
- Schleutker Johanna
- Serpi Raisa
- Shen Huei-Yi
- Siegel Richard
- Siirtola Harri
- Silander Kaisa
- Siltanen Sanna
- SipilÀ Timo P
- Soini Sirpa
- Soininen Hilkka
- Sul Jae Hoon
- Sun Benjamin
- Tachmazidou Ioanna
- Tasanen Kaisa
- Tienari Pentti
- Toppila-Salmi Sanna
- Tukiainen Taru
- Tuomi Tiinamaija
- Turunen Joni A
- Ulirsch Jacob C
- Vaura Felix
- Veerapen Kumar
- Virolainen Petri
- Waring Jeffrey
- Waterworth Dawn
- Yang Robert
- Zhou Wei
- Publication venue
- Nature
- Publication date
- 15/03/2023
- Field of study
Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- Author
- Aaltonen L. (Lauri)
- Aaltonen V. (Vesa)
- Arvas M. (Mikko)
- Auge F. (Franck)
- Auranen A. (Annika)
- Auro K. (Kirsi)
- Auvinen P. (Paivi)
- Awaisa G. (Ghazal)
- Betts J. (Jo)
- Bhangale T. (Tushar)
- Bing N. (Nan)
- Biswas S. (Shameek)
- Blomster T. (Timo)
- Bowers N. (Natalie)
- Brein G. (Georg)
- Bronson P. (Paola)
- Call K. (Kathy)
- Carpen O. (Olli)
- Challis B. (Ben)
- Chang D. (Diana)
- Chatelain C. (Clement)
- Chen C.-Y. (Chia-Yen)
- Chen H. (Hao)
- Chen H. (Hubert)
- Chen X. (Xing)
- Chhibber A. (Aparna)
- Chu A. (Audrey)
- Close D. (David)
- Crohns M. (Marika)
- Dada A. (Alexander)
- Daly M. J. (Mark J.)
- Davis J. W. (Justin Wade)
- Diogo D. (Dorothee)
- Donner K. (Kati)
- Eaton S. (Susan)
- Ehm M. (Meg)
- Eicher J. (John)
- Eklund K. (Kari)
- Elenius K. (Klaus)
- Esmaeeli S. (Sahar)
- Farkkila M. (Martti)
- Fox C. (Caroline)
- Freimer N. B. (Nelson B.)
- Ganna A. (Andrea)
- Georgantas B. (Bob)
- Gerl M. J. (Mathias J.)
- Ghosh S. (Soumitra)
- Gordillo J. E. (Jorge Esparza)
- Gormley P. (Padhraig)
- Gossel M. (Matthias)
- Greenberg S. (Steven)
- Hannula-Jouppi K. (Katariina)
- Harju J. (Jarmo)
- Harju T. (Terttu)
- Harvima I. (Ilkka)
- Hassan S. (Shabbeer)
- Hautala N. (Nina)
- Havulinna A. S. (Aki S.)
- Heap G. (Graham)
- Hedman A. (Asa)
- Heikkinen S. (Sami)
- Hendolin M. (Minna)
- Hiekkalinna T. (Tero)
- Hiltunen M. (Mikko)
- Hinttala R. (Reetta)
- Hochfeld M. (Marla)
- Hoffman J. (Joshua)
- Holzinger E. (Emily)
- Hu X. (Xinli)
- Huhtakangas J. (Johanna)
- Huilaja L. (Laura)
- Hunkapiller J. (Julie)
- Hyvarinen K. (Kati)
- Isomaki P. (Pia)
- Jacob H. (Howard)
- Jalanko A. (Anu)
- Jarvensivu E. (Elina)
- Jauhiainen M. (Matti)
- Jimenez M. G. (Manuel Gonzalez)
- Joensuu H. (Heikki)
- John S. (Sally)
- Julkunen V. (Valtteri)
- Junttila J. (Juhani)
- Juonala M. (Markus)
- Jussila A. (Airi)
- Kaarniranta K. (Kai)
- Kaarteenaho R. (Riitta)
- Kahonen M. (Mika)
- Kaiharju E. (Essi)
- Kaipiainen-Seppanen O. (Oili)
- Kajanne R. (Risto)
- Kalaoja M. (Marita)
- Kallio L. (Lila)
- Kalpala K. (Kirsi)
- Kalviainen R. (Reetta)
- Kangasniemi E. (Eeva)
- Kankaanranta H. (Hannu)
- Kaprio J. (Jaakko)
- Karihtala P. (Peeter)
- Karjalainen J. (Juha)
- Karjalainen M. (Minna)
- Karlsson A. (Antti)
- Kaunisto M. (Mari)
- Kauppi P. (Paula)
- Kauppila S. (Saila)
- Kerchner G. (Geoff)
- Kettunen J. (Johannes)
- Kiiskinen T. T. (Tuomo T. J.)
- Kilpelainen E. (Elina)
- Kilpi T. (Terhi)
- Kiviniemi M. (Mikko)
- Klinger K. (Kathy)
- Klose C. (Christian)
- Kononen J. (Juha)
- Koskela J. T. (Jukka T.)
- Koskinen M. (Miika)
- Kosma V.-M. (Veli-Matti)
- Koulu L. (Leena)
- Kristiansson K. (Kati)
- Kujala U. (Urho)
- Kulkarni D. (Diptee)
- Kuopio T. (Teijo)
- Kurki M. (Mitja)
- Laakkonen E. (Eija)
- Laakso M. (Markku)
- Laaksonen R. (Reijo)
- Lahteenmaki S. (Sini)
- Laiho P. (Paivi)
- Laitinen T. (Tarja)
- Laivuori H. (Hannele)
- Landenpera S. (Sanni)
- Laukkanen J. (Jari)
- Laukkanen M. (Markku)
- Lehisto A. (Arto)
- Lehtonen A. (Anne)
- Lehtonen H. (Heli)
- Lemmela S. (Susanna)
- Lertratanakul A. (Apinya)
- Linden K. (Kari)
- Liu J. (Jimmy)
- Llorens V. (Vincent)
- Loboda A. (Andrey)
- Loukola A. (Anu)
- Lu T. (Tim)
- Luodonpaa M. (Marja)
- Lyhs U. (Ulrike)
- Makela T. (Tomi)
- Malarstig A. (Anders)
- Mannermaa A. (Arto)
- Mannikko L. (Lotta)
- Mantere T. (Tuomo)
- Maranville J. (Joseph)
- Mars N. (Nina)
- Marshal C. (Catherine)
- Matakidou A. (Athena)
- Matikainen N. (Niina)
- Mattsson H. (Hannele)
- McCarthy L. (Linda)
- McCarthy M. (Mark)
- McDonough S. (Stefan)
- Mehta V. (Vinay)
- Meretoja T. (Tuomo)
- Metsarinne K. (Kaj)
- Michon J. (John)
- Miller M. (Melissa)
- Muslin A. (Anthony)
- Niiranen T. (Teemu)
- Nunez-Fontarnau J. (Javier)
- Oh D. (Danny)
- Ollila T. (Terhi)
- Pakkanen R. (Raimo)
- Palin K. (Kimmo)
- Palomaki A. (Antti)
- Paloneva J. (Juha)
- Palotie A. (Aarno)
- Palta P. (Priit)
- Parkkinen J. (Jaakko)
- Parolo P. D. (Pietro Della Briotta)
- Parr K. (Kalle)
- Partanen J. (Jukka)
- Pelkonen M. (Margit)
- Peltola J. (Jukka)
- Peltonen S. (Sirkku)
- Perola M. (Markus)
- Peterson A. (Andrew)
- Petrovski S. (Slave)
- Pihlajamaki J. (Jussi)
- Pikkarainen S. (Sampsa)
- Pirila L. (Laura)
- Pirinen M. (Matti)
- Pitkanen K. (Kimmo)
- Pitkaranta A. (Anne)
- Plenge R. (Robert)
- Podgornaia A. (Anna)
- Popovic R. (Relja)
- Pulford D. (David)
- Pulkki K. (Kari)
- Pylkas K. (Katri)
- Quarless D. (Danjuma)
- Rahimov F. (Fedik)
- Ramo J. T. (Joel T.)
- Remes A. (Anne)
- Riley-Gillis B. (Bridget)
- Rinne J. (Juha)
- Ripatti P. (Pietari)
- Ripatti S. (Samuli)
- Ritari J. (Jarmo)
- Rivas M. (Manuel)
- Runz H. (Heiko)
- Salmi T. (Teea)
- Salomaa V. (Veikko)
- Savinainen K. (Kimmo)
- Schleutker J. (Johanna)
- Schutzman J. (Jennifer)
- Seitsonen S. (Sanna)
- Service S. K. (Susan K.)
- Shcherban A. (Anastasia)
- Siirtola H. (Harri)
- Simons K. (Kai)
- Sinisalo J. (Juha)
- Sipila T. (Tuomas)
- Sipila T. P. (Timo P.)
- Sistonen T. (Tuuli)
- Smaoui N. (Nizar)
- Soderlund S. (Sanni)
- Soini S. (Sirpa)
- Soininen H. (Hilkka)
- Stitziel N. O. (Nathan O.)
- Strauss E. (Erich)
- Surma M. A. (Michal A.)
- Tabassum R. (Rubina)
- Tabuenca J. G. (Javier Gracia)
- Tasanen K. (Kaisa)
- Taskinen M.-R. (Marja-Riitta)
- Teng E. (Edmond)
- Tienari P. (Pentti)
- Tuomi T. (Tiinamaija)
- Tuovila O. (Outi)
- Turunen J. (Joni)
- Usiskin K. (Keith)
- Uusitalo H. (Hannu)
- Uusitalo-Jarvinen H. (Hannele)
- Vainio S. (Seppo)
- Virolainen P. (Petri)
- Voutilainen M. (Markku)
- Wahlfors T. (Tiina)
- Wang C. (Clarence)
- Wang X. (Xulong)
- Waring J. (Jeff)
- Waring J. (Jeffrey)
- Waterworth D. (Dawn)
- Whelan C. (Christopher)
- Wong R. (Regis)
- Wu Y. (Ying)
- Xu E. (Ethan)
- Xu F. (Fanli)
- Yang R. (Robert)
- Zhou W. (Wei)
- Ziemann A. (Adam)
- Publication venue
- Springer Nature
- Publication date
- 01/01/2019
- Field of study
Abstract
Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (nâ=â2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (nâ=â511,700 individuals). We identify 35 lipid-species-associated loci (Pâ<5âĂ10â8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD
FinnGen provides genetic insights from a well-phenotyped isolated population
- Author
- Aalto-Setala Katriina
- Aavikko Mervi
- Alasoo Kaur
- Arvas Mikko
- Auro Kirsi
- Biswas Shameek
- Bizaki-Vallaskangas Argyro
- Carpen Olli
- Chen Chia-Yen
- Dada Oluwaseun A.
- Daly Mark J.
- Ding Zhihao
- Donner Kati M.
- Ehm Margaret G.
- Eklund Kari
- Elnahas Abdelrahman G.
- Esko Tonu
- Farkkila Martti
- FinnGen
- Finucane Hilary
- Foley Christopher N.
- Fox Caroline
- Ganna Andrea
- Ghazal Awaisa
- Gracia-Tabuenca Javier
- Graham Robert R.
- Green Eric M.
- Hakanen Antti
- Hautalahti Marco
- Havulinna Aki S.
- Hedman Asa K.
- Heyne Henrike O.
- Hiekkalinna Tero
- Hiltunen Mikko
- Hinttala Reetta
- Hovatta Iiris
- Hu Xinli
- Huertas-Vazquez Adriana
- Huilaja Laura
- Hunkapiller Julie
- Jacob Howard
- Jalanko Anu
- Jensen Jan-Nygaard
- Joensuu Heikki
- John Sally
- Julkunen Valtteri
- Jung Marc
- Junttila Juhani
- Kaarniranta Kai
- Kahonen Mika
- Kajanne Risto
- Kallio Lila
- Kalviainen Reetta
- Kanai Masahiro
- Kaprio Jaakko
- Karjalainen Juha
- Kaunisto Mari A.
- Kerimov Nurlan
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
New insights into the genetic etiology of Alzheimerâs disease and related dementias
- Author
- A David Smith
- Aaltonen L.
- Aaltonen V.
- Aarno Palotie
- Aarsland D.
- Aavikko M.
- Abalos M. S.
- Abdelnour C.
- Abner E.
- Abraham R.
- Ad Adarmes-GĂłmez
- Adam Boxer
- Adam Ziemann
- Adams H.
- Adams P. M.
- Adarmes-GĂłmez A.
- Adarmes-GĂłmez A. D.
- Adriana Gamboa
- Adrienne L Cupples
- Adrienne Tin
- Aguilera N.
- Aguilera N.
- Aguirre A.
- Agustina Legaz
- Ahmad S.
- Aimee Pierce
- Aino Salminen
- Airi Jussila
- Aisha Khaleeq
- Aki Havulinna
- Akinyemi R. O.
- Al-Chalabi A.
- Alan B Stevens
- Alan Lerner
- AlarcĂłn-MartĂn E.
- Albert M. S.
- Alberto Benussi
- Albin R. L.
- Alcolea D.
- Aldo Saenz
- Alegret M.
- Alessandra Chesi
- Alessandro Vacca
- Alexander Teumer
- Alexis Brice
- Ali M.
- Alisa Manning
- Alison E Fohner
- Allan I Levey
- Allen M.
- Allende I. R.
- Alonso M. D.
- Alonso M. D.
- Alvarez I.
- Alvarez L.
- Alvin Thomas
- Alyssa Aguirre
- Amanda Cano
- Amanda Elliott
- Amanda G Smith
- Amanda J Myers
- Amer-Ferrer G.
- Amin N.
- Ammar Al-Chalabi
- Amouyel P.
- Amy Gerrish
- Amy Williams
- Ana MauleĂłn
- Ana Pancho
- Anastasia Shcherban
- Anastasiou A.
- Anastasiou C.
- Anders Malarstig
- Andrade V.
- Andrea Ganna
- Andreassen O. A.
- Andreoni S.
- Andrew J Saykin
- Andrew McQuillin
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- Andrew Peterson
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- Tim Behrens
- Tim Lu
- Timo Blomster
- Timo P SipilÀ
- Timo Strandberg
- Timothy Hohman
- Timothy Hughes
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- Victor W Henderson
- Victoria Fernandez-Hernandez
- Victoria Perez
- Victoriana MartĂnez
- Vidal J. -S.
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- Vincent Deramecourt
- Vincent Deramerourt
- Vincent Llorens
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- Wei Gu
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- Weintraub S.
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- Whelan C.
- Whitehead P. L.
- Wichmann H. -E.
- Wigmore E.
- Wijsman E. M.
- Wilcock G.
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- Will S Bush
- William Kremen
- William Nash
- William W Seeley
- Williams A.
- Williams B.
- Williams D.
- Williams J.
- Williamson J.
- Wilms H.
- Wiltfang J.
- Windle G.
- Wingo T. S.
- Wisniewski T.
- Wittfeld K.
- Woltjer R. L.
- Wong R.
- Woods B.
- Woon M.
- Wright C. B.
- Wu C. -K.
- Wu Y.
- Xia T. -H.
- Xing Chen
- Xinli Hu
- Xiongwei Zhu
- Xu E.
- Xu F.
- Xuan Liu
- Yanbing Wang
- Yanek L.
- Yang Q.
- Yang Y.
- Yannakoulia M.
- Yaqub A.
- Yasaman Saba
- Yash Patel
- Yeunjoo E Song
- Yi Zhao
- Ying Wu
- Yoav Ben-Shlomo
- Yogen Patel
- Younkin S. G.
- Yu C. -E.
- Yu L.
- Yuanchao Zhang
- Yuk Yee Leung
- Yunfeng Huang
- Yunju Yang
- Zare H.
- Zdenka Pausova
- Zhang X.
- Zhang Y.
- Zhao Y.
- Zhao Y.
- Zhou W.
- Zhu C.
- Zhu X.
- Ziemann A.
- Zoia C. P.
- Zompo M. D.
- Zulaica M.
- Zulma Sevillano
- Ălvarez V.
- Ă sa Hedman
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
Characterization of the genetic landscape of Alzheimerâs disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/âproxyâ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE Δ4 allele
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices
- Author
- Aaltonen L. (Lauri)
- Aaltonen V. (Vesa)
- Abe N. (Namiko)
- Abecasis G. (Goncalo)
- Albert C. (Christine)
- Almasy L. (Laura)
- Alonso A. (Alvaro)
- Ament S. (Seth)
- Anderson P. (Peter)
- Antonacci-Fulton L. (Lucinda)
- Applebaum-Bowden D. (Deborah)
- Aragam K. (Krishna)
- Arden M. (Moscati)
- Arking D. (Dan)
- Arnett D. K. (Donna K.)
- Arvas M. (Mikko)
- Ashley-Koch A. (Allison)
- Aslibekyan S. (Stella)
- Assimes T. L. (Themistocles L.)
- Auer P. (Paul)
- Auge F. (Franck)
- Auranen A. (Annika)
- Auro K. (Kirsi)
- Auvinen P. (Pivi)
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- Awaisa G. (Ghazal)
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- Smith A. V. (Albert, V)
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- Smoller S. (Sylvia)
- Snively B. (Beverly)
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- Weeks D. E. (Daniel E.)
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- Weng L.-C. (Lu-Chen)
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- Yanek L. R. (Lisa R.)
- Yang I. (Ivana)
- Yang R. (Robert)
- Yang R. (Rongze)
- Zaghlou N. (Norann)
- Zekavat M. (Maryam)
- Zhang Y. (Yingze)
- Zhao S. X. (Snow Xueyan)
- Zhao W. (Wei)
- Zhou W. (Wei)
- Zhou X. (Xiang)
- Zhu X. (Xiaofeng)
- Ziemann A. (Adam)
- Zni D. (Degui)
- Zody M. (Michael)
- Zoellner S. (Sebastian)
- Publication venue
- Springer Nature
- Publication date
- 01/01/2021
- Field of study
Abstract
Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid data in a high-coverage whole X chromosome sequencing study of 65,322 multi-ancestry participants and perform replication among 456,893 European participants. Common alleles on chromosome Xq23 are strongly associated with reduced total cholesterol, LDL cholesterol, and triglycerides (min Pâ=â8.5âĂâ10â72), with similar effects for males and females. Chromosome Xq23 lipid-lowering alleles are associated with reduced odds for CHD among 42,545 cases and 591,247 controls (Pâ=â1.7âĂâ10â4), and reduced odds for diabetes mellitus type 2 among 54,095 cases and 573,885 controls (Pâ=â1.4âĂâ10â5). Although we observe an association with increased BMI, waist-to-hip ratio adjusted for BMI is reduced, bioimpedance analyses indicate increased gluteofemoral fat, and abdominal MRI analyses indicate reduced visceral adiposity. Co-localization analyses strongly correlate increased CHRDL1 gene expression, particularly in adipose tissue, with reduced concentrations of blood lipids
New insights into the genetic etiology of Alzheimerâs disease and related dementias
- Author
- Aaltonen Lauri
- Aaltonen Vesa
- Aarsland Dag
- Aavikko Mervi
- Abalos Mariana Sanchez
- Abdelnour Carla
- Abner Erin
- Abraham Richard
- Adams Hieab
- Adams Perrie M.
- Adarmes-GĂłmez Ad
- Adarmes-GĂłmez Astrid D.
- Aguilera Nuria
- Aguilera Nuria
- Aguirre Alyssa
- Ahmad Shahzad
- Akinyemi Rufus O.
- Al-Chalabi Ammar
- AlarcĂłn-MartĂn Emilio
- Albert Marilyn S.
- Albin Roger L.
- Alcolea Daniel
- Alegret Montserrat
- Ali Muhammad
- Allen Mariet
- Allende Irene Rosas
- Alonso MarĂa Dolores
- Alonso MarĂa Dolores
- Alvarez Ignacio
- Alvarez Lisa
- Amer-Ferrer Guillermo
- Amin Najaf
- Amouyel Philippe
- Anastasiou Anna
- Anastasiou Costas
- Andrade Victor
- Andreassen Ole A.
- Andreoni Simona
- Antequera Martirio
- Antikainen Riitta
- Antonell Anna
- Anttonen Vuokko
- AntĂșnez Carmen
- Aparicio Hugo J.
- Apostolova Liana G.
- Appollonio Ildebrando
- Arcaro Marina
- Archetti Silvana
- Armstrong Nicola
- Armstrong Nicola J.
- Arnold Steven E.
- Arosio Beatrice
- Arvas Mikko
- Assogna Francesca
- Asthana Sanjay
- Athanasiu Lavinia
- Atwood Craig S.
- Auge Franck
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- Auvinen PĂ€ivi
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- Ayres Gayle
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- Orellana Adelina
- Orsini Michela
- Ortega Gemma
- Ortiz Cecilia
- Ory Marcia
- Owen Michael
- Owen Michael J.
- OâBryant Sid
- OâConnell Jeffrey
- OâDonovan Michael
- OâDonovan Michael C.
- Paajanen Teemu
- Padovani Alessandro
- Pakkanen Raimo
- Palacio Dana Lis
- Palin Kimmo
- Palmer Raymond
- PalomÀki Antti
- Palotie Aarno
- Palotie Ulla
- Palta Priit
- Pancho Ana
- Paolo Caffarra
- Papenberg Goran
- Parisi Joseph E.
- Parkkinen Jaakko
- Parnetti Lucilla
- Partanen Jukka
- Parveen Kayenat
- Pasquier Florence
- Passmore Peter
- Passmore Peter
- Pastor Alfonso Arias
- Pastor Ana Belén
- Pastor Pau
- Patel Yash
- Patel Yogen
- Paulson Henry L.
- Paus Tomas
- Pausova Zdenka
- Pavlik Valory
- Paydarfar David
- PelejĂ Esther
- PelejĂĄ Ester
- Pelkonen Margit
- Peloso Gina
- Peltola Jukka
- Peltonen Markku
- Peltonen Sirkku
- Pendergrass Sarah
- Perez Victoria
- Pericak-Vance Margaret A.
- Pericard Pierre
- Periñån Mt
- Periñån-Tocino MarĂa Teresa
- Perneczky Robert
- Perola Markus
- Peskind Elaine
- Peters Oliver
- Petersen Ronald C.
- Peterson Andrew
- Petrovski Slavé
- Phillips-Cremins Jennifer E.
- Pickering-Brown Stuart
- Pierce Aimee
- PihlajamÀki Jussi
- Pijnenburg Yolande A. L.
- Pikkarainen Sampsa
- Pinchler Sabrina
- Pineda Juan A.
- Pineda-SĂĄnchez R.
- Pineda-SĂĄnchez RocĂo
- Piras Fabrizio
- Piras Federica
- PirilÀ Laura
- Pisanu Claudia
- PitkÀranta Anne
- Piñol-Ripoll Gerard
- Plenge Robert
- Podgornaia Anna
- Polak Thomas
- Politis Daniel G.
- Polk Marsha
- Poon Wayne W.
- Popovic Relja
- Popp Julius
- Posthuma Danielle
- Potter Huntington
- Powell John
- Powell John F.
- Preckler Silvia
- Prestia Federico Ariel
- Priller Josef
- Proitsi Petra
- Prokic Ivana
- Psaty Bruce M.
- Puerta Raquel
- Pulford David
- Pulkki Kari
- Pussinen Pirkko
- PylkÀs Katri
- PĂ€rn Kalle
- PĂ©rez-CordĂłn Alba
- PĂ©rez-Tur Jordi
- Qu Liming
- Quarless Danjuma
- Quenez Olivier
- Quiceno Mary
- Quinn Joseph F.
- Quintela Inés
- Rahimov Fedik
- Raikkonen-Talvitie Katri
- Rainero Innocenzo
- Raj Ashok
- Raj Towfique
- Rajabli Farid
- Rajpal Deepak
- Rajula Reddy
- Ramakers Inez
- Ramirez Alfredo
- Raskind Murray
- Rathinakannan Venkat Subramaniam
- Real de AsĂșa Diego
- Real Luis M.
- Reeve Mary Pat
- Reiman Eric M.
- Reinders Marcel J. T.
- Reisberg Barry
- Reisch Joan S.
- Reitz Christiane
- Remes Anne
- Reyes-Dumeyer Dolly
- Riaz Moeen
- Rice David
- Rich Stephen
- Ridge Perry
- Riedel-Heller Steffi
- Riederer Peter
- Riemenschneider Matthias
- Riley-Gillis Bridget
- Ringman John M.
- Rinne Juha
- Rios Mario
- Ripatti Samuli
- Ritari Jarmo
- Rivas Manuel
- Roberson Erik D.
- Roberto Natalia
- Rodrigo Silvia
- Rodrigo-Herrero Silvia
- Rodriguear Monica
- Rodriguez-Rodriguez Eloy
- RodrĂguez Carmen MartĂnez
- Roeck Ellen De
- Rogaeva Ekaterina
- Rojo Matias
- Romero Jose
- Rongve Arvid
- Rosen Howard J.
- Rosenberg Roger N.
- Rosende-Roca Maitée
- Roshchupkin Gena
- Rossi Giacomina
- Rossi Paolo Dionigi
- Rossor Martin
- Rossor Martin
- Rotter Jerome
- Roveta Fausto
- Royall Donald R.
- Royo Jose Luis
- Rubino Elisa
- Rubinsztein David C.
- Ruiz AgustĂn
- Rujescu Dan
- Runz Heiko
- Ryan Natalie S.
- Ryan Nathalie
- RĂĄbano Alberto
- RĂŒeger Sina
- Saba Yasaman
- Sachdev Perminder
- Saenz Aldo
- Sager Mark A.
- Sakka Paraskevi
- Sala Gessica
- Salmi Teea
- Salminen Aino
- Salo Tuula
- Salomaa Veikko
- Saltvedt Ingvild
- Salvadori Nicola
- Sanabria Ăngela
- Sanchez-Garcia Florentino
- Sando Sigrid B.
- Sano Mary
- Sargurupremraj Murali
- Sarnowski Chloé
- Sastre Isabel
- Satizabal Claudia L.
- Saykin Andrew J.
- Scamosci Michela
- Scarmeas Nikolaos
- Scarpini Elio
- Schellenberg Gerard D.
- Scheltens Philip
- Scherbaum Norbert
- Scherer Martin
- Schleutker Johanna
- Schmid Matthias
- Schmidt Helena
- Schmidt Reinhold
- Schneider Anja
- Schneider Julie A.
- Schneider Lon S.
- Schott Jonathan M.
- Schutzman Jennifer
- SchĂŒrmann Britta
- Seeley William W.
- Seitsonen Sanna
- Sekhar Hema
- SelbĂŠk Geir
- Selnes Per
- Seripa Davide
- Serpente Maria
- Serpi Raisa
- Serrano Manuel
- Seshadri Sudha
- Sevillano Zulma
- Sha Jin
- Shadrin Alexey A.
- Shaikho Elmutaz
- Shaw Christopher E.
- Shcherban Anastasia
- Shin Jean
- Shofany Jacob
- Shulman Joshua M.
- Siirtola Harri
- Simino Jeannette
- Sims Rebecca
- Sinisalo Juha
- Sipeky Csilla
- SipilÀ Kirsi
- SipilÀ Timo P.
- Siponen Maria
- Sistonen Tuuli
- Skrobot Olivia
- Sleegers Kristel
- Slifer Susan
- Slifer Susan H.
- Sliz Eeva
- Small Scott
- Smaoui Nizar
- Smith A. David
- Smith Amanda G.
- Smith Janet P.
- Smith Jennifer
- Snijders Gijsje J. L.
- Soininen Hilkka
- Solfrizzi Vincenzo
- Solis Patricia
- Solomon Alina
- Song Yeunjoo
- Song Yeunjoo E.
- Sonnen Joshua A.
- Sorbi Sandro
- Sotolongo-Grau Oscar
- Spallazzi Marco
- Spalletta Gianfranco
- Spina Salvatore
- Spottke Annika
- Squassina Alessio
- Stern Robert A.
- Stevens Alan B.
- Stordal Eystein
- Strandberg Timo
- Strauss Erich
- Strittmatter Stephen M.
- StÄhlbom Anne Kinhult
- Sultzer David
- Suominen Liisa
- Sussams Rebecca
- Swerdlow Russell H.
- SĂĄez MarĂa Eugenia
- SĂĄnchez-Arjona MarĂa Bernal
- SĂĄnchez-Valle Raquel
- Takalo Mari
- Tanzi Rudolph E.
- Tartan Juan Pablo
- Tasanen Kaisa
- Taskinen Marja-Riitta
- Teipel Stefan
- Teng Edmond
- TesĂ Niccolo
- Teumer Alexander
- Thalamuthu Anbupalam
- Thomas Alvin
- Thomas Charlene
- Thomas Tegos
- Thomassen Jesper Qvist
- Thonberg HĂ„kan
- Tienari Pentti
- Tilson Jeffrey L.
- Tin Adrienne
- Todd Stephen
- Toso Carlos Reyes
- Tosto Giuseppe
- Traykov Latchezar
- Tremolizzo Lucio
- Trojanowski John Q.
- Troncoso Juan C.
- Tsai Ellen
- Tsolaki Anthoula
- Tsolaki Magda
- Tsuang Debby W.
- Tsuo Kristin
- Tucker-Drob Elliot
- Tukiainen Taru
- Tuomi Tiinamaija
- Tuomilehto Jaakko
- Tuovila Outi
- Turpeinen Miia
- Turton James
- Turunen Joni A.
- TybjĂŠrg-Hansen Anne
- Tzourio Christophe
- TĂĄrraga LluĂs
- Uitterlinden Andre
- Ullgren Abbe
- Ulstein Ingun
- Uphill James
- Usiskin Keith
- Uusitalo Hannu
- Uusitalo-JĂ€rvinen Hannele
- Vacca Alessandro
- Vainio Seppo
- Valero Sergi
- Valladares Otto
- Valladares Otto
- van Adelsberg Janet
- Van Deerlin Vivianna M.
- van den Bussche Hendrik
- van der Flier Wiesje M.
- van der Lee Sven J.
- van der Lugt Aad
- van Duijn Cornelia M.
- van Eldik Linda J.
- van Lent Debora Melo
- van Rooij Jeroen
- van Swieten John
- Vance Jeffery
- Vandenberghe Rik
- Vardarajan Badri N.
- Vardy Emma
- Vargas Liliana
- Vassar Robert
- Verhey Frans
- Vicente Maria Pilar
- Vidal Jean-SĂ©bastien
- Vigo-Ortega R.
- Vigo-Ortega Rosario
- Vilas Raquel Huerto
- Vinters Harry V.
- Virolainen Petri
- Vivancos Liliana
- Vogelgsang Jonathan
- Vojinovic Dina
- Vonsattel Jean-Paul
- Voutilainen Markku
- Vyhnalek Martin
- Wadhawan Samir
- Wagner Michael
- Wallon David
- Wang Clarence
- Wang Li-San
- Wang Ruiqi
- Wang Yanbing
- Warden Donald
- Waring Jeff
- Waring Jeffrey
- Warner Nick
- Warren Jason D.
- Waterworth Dawn
- Weber Heike
- Weinhold Leonie
- Weinstein Galit
- Weintraub Sandra
- Welsh-Bohmer Kathleen A.
- Whelan Christopher
- Whitehead Patrice L.
- Wichmann H-Erich
- Wigmore Eleonor
- Wijsman Ellen M.
- Wilcock Gordon
- Wilhelmsen Kirk C.
- Williams Amy
- Williams Benjamin
- Williams Dylan
- Williams Julie
- Williamson Jennifer
- Wilms Henrik
- Wiltfang Jens
- Windle Gill
- Wingo Thomas S.
- Wisniewski Thomas
- Wittfeld Katharina
- Woltjer Randall L.
- Wong Regis
- Woods Bob
- Woon Martin
- Wright Clinton B.
- Wu Chuang-Kuo
- Wu Ying
- Xia Tai-he
- Xu Ethan
- Xu Fanli
- Yanek Lisa
- Yang Qiong
- Yang Yunju
- Yannakoulia Mary
- Yaqub Amber
- Younkin Steven G.
- Yu Chang-En
- Yu Lei
- Zare Habil
- Zhang Xiaoling
- Zhang Yuanchao
- Zhao Yi
- Zhao Yi
- Zhou Wei
- Zhu Congcong
- Zhu Xiongwei
- Ziemann Adam
- Zoia Chiara Paola
- Zompo Maria Del
- Zulaica Miren
- Ălvarez Victoria
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/04/2022
- Field of study
Characterization of the genetic landscape of Alzheimerâs disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/âproxyâ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE Δ4 allele
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices
- Author
- Aaltonen Lauri
- Aaltonen Vesa
- Abe Namiko
- Abecasis Goncalo
- Albert Christine
- Almasy Laura
- Alonso Alvaro
- Ament Seth
- Anderson Peter
- Antonacci-Fulton Lucinda
- Applebaum-Bowden Deborah
- Aragam Krishna
- Arden Moscati
- Arking Dan
- Arnett Donna K.
- Arvas Mikko
- Ashley-Koch Allison
- Aslibekyan Stella
- Assimes Themistocles L.
- Auer Paul
- Auge Franck
- Auranen Annika
- Auro Kirsi
- Auvinen Pivi
- Avramopoulos Dimitrios
- Awaisa Ghazal
- Ballantyne Christie M.
- Barnard John
- Barnes Kathleen
- Barr R. Graham
- Barron-Casella Emily
- Beaty Terri
- Becker Diane
- Becker Julia Powers
- Becker Lewis C.
- Beer Rebecca
- Begum Ferdouse
- Beitelshees Amber
- Ben Challis
- Ben Heavner
- Benjamin Emelia
- Betts Jo
- Bezerra Marcos
- Bhangale Tushar
- Bielak Larry
- Bielak Lawrence F.
- Bing David Close Marla Hochfeld Nan
- Bisl Joshua C.
- Biswas Shameek
- Blackwel Thomas
- Blangercy John
- Blomster Timo
- Boerwinkle Eric
- Boorgula Meher Preethi
- Bowden Donald W.
- Bowers Natalie
- Bowler Russell
- Brein Georg
- Brody Jennifer A.
- Broecke Ulrich
- Bronson Paola
- Broome Jai G.
- Bunting Karen
- Burchard Esteban
- Buth Erin
- Cade Brian E.
- Call Kathy
- Cardwel Jonathan
- Carty Cara
- Casaburi Richard
- Casella James
- Chaffin Mark
- Chang Christy
- Chang Diana
- Chang Yi-Cheng
- Chasman Daniel
- Chatelain Clement
- Chavan Sameer
- Chen Bo-Juen
- Chen Chia-Yen
- Chen Hao
- Chen Hubert
- Chen Wei-Min
- Chen Xing
- Chen Yii-Der, I
- Chhibber Aparna
- Choi Seung Hoan
- Choi Won Jung
- Chol Michael
- Choy David
- Chu Audrey
- Chuang Lee-Ming
- Chung Mina
- Connell Jeff O.
- Connell Jeffrey R. O.
- Connor Tim O.
- Conomos Matthew P.
- Cornell Elaine
- Correa Adolfo
- Crapo James
- Crohns Marika
- Cupples L. Adrienne
- Curran Joanne E.
- Curtis Jeffrey
- Custer Brian
- Dada Alexander
- Daly Mark
- Daly Mark J.
- Damcott Coleen
- Darbar Dawood
- Das Sayantan
- David Sean
- Davis Colleen
- Davis Justin Wade
- Daya Michelle
- de Andrade Mariza
- de Vries Paul S.
- DeBaunuo Michael
- Devine Ranjan Deka Dawn DeMeo Scott
- Diogo Dorothee
- Do Ron
- Doddapaneni Harsha
- Donner Kati
- Duan
- Duggirala Qing Ravi
- Durda Jon Peter
- Dutcher Susan
- DutcherE Susan K.
- Eaton Charles
- Eaton Susan
- Ehm Meg
- Eicher John
- Eklund Kari
- Ekunwe Lynette
- Elenius Klaus
- Ellinor Patrick T.
- Emery Leslie S.
- Esmaeeli Sahar
- Farber Charles
- Farnaml Leanna
- Fingerlin Tasha
- Flickinger Matthew
- Fornage Myriam
- Fox Caroline
- Franceschini Nora
- Freedman Barry, I
- Frkkil Martti
- Fu Mao
- Fullerton Stephanie M.
- Fulton Lucinda
- Gabriel Stacey
- Gan Weiniu
- Ganna Andrea
- Gao Yan
- Gass Margery
- Ge Bruce
- Geng Xiaoqi Priscilla
- Georgantas Bob
- Germer Soren
- Germer Soren
- Ghosh Soumitra
- Gibbs Richard A.
- Gignoux Chris
- Gladwin Mark
- Glahn David
- Gogarten Stephanie
- Gong Da-Wei
- Gordillo Jorge Esparza
- Goring Harald
- Gormle Padhraig Y.
- Gossel Matthias
- Graham Sarah E.
- Greenberg Steven
- Gu C. Charles
- Guan Yue
- Guo Xiuqing
- Haessler Jeff
- Hall Michael
- Hannula-Jouppi Katariina
- Harju Jarmo
- Harju Terttu
- Harris Daniel
- Harvima Ilkka
- Hautala Nina
- Havulinna Aki
- Hawle Nicola Y.
- He Jiang
- Heap Graham
- Heckbert Susan
- Heikkinen Sami
- Hendolin Minna
- Hernandez Ryan
- Herrington David
- Hersh Craig
- Hidalgo Bertha
- Hiekkalinna Tero
- Hiltunen Mikko
- Hinttala Reetta
- Hixson James
- Hoffman Joshua
- Hokanson John
- Holzinger Emily
- Hong Elliott
- Honigbere Michael C.
- Hoth Karin
- Hsiung Chao Agnes
- Hu Xinli
- Huilaja Laura
- Hung Yi-Jen
- Hunkapiller Julie
- Huston Haley
- Hveem Kristian
- Hwu Chii Min
- Hyvrinen Kati
- Irvin Marguerite R.
- Isomki Pia
- Jackson Rebecca
- Jacob Howard
- Jain Deepti
- Jalanko Anu
- Jaquish Cashell
- Jarvik Gail P.
- Jhun Min A.
- Jimnez Manuel Gonzlez
- Joensuu Heikki
- John Sally
- Johnsen Jill
- Johnson Andrew
- Johnson Craig
- Johnston Rich
- Jones Kimberly
- Jrvensivu Elina
- Julkunen Valtteri
- Junttila Juhani
- Juonala Markus
- Jussila Airi
- Kaarniranta Kai
- Kaarteenaho Riitta
- Kaiharju Essi
- Kaipiainen-Seppnen Oili
- Kajanne Risto
- Kalaoja Marita
- Kallio Lila
- Kalpala Kirsi
- Kang Hyun Min
- Kangasniemi Eeva
- Kankaanranta Hannu
- Kaplan Robert C.
- Kaprio Jaakko
- Kardia Sharon L. R.
- Karihtala Peeter
- Karjalainen Juha
- Karjalainen Minna
- Karlsson Antti
- Kathiresan Sekar
- Kaufman Laura
- Kaunisto Mari
- Kauppi Paula
- Kauppila Saila
- Kell Shannon Y.
- Kennyn Eimear
- Kerchner Geoff
- Kessler Michael
- Kettunen Johannes
- Khan Alyna T.
- Khnen Mika
- Kiiskinen Tuomo
- Kilpelinen Elina
- Kilpi Terhi
- Kim Ryan W.
- Kinney Greg
- Kiviniemi Mikko
- Klinger Kathy
- Klviinen Reetta
- Konkle Barbara
- Kononen Juha
- Kooperberg Charles
- Koskinen Miika
- Kosma Veli-Matti
- Koulu Leena
- Kramer Holly
- Krauter Stephanie
- Kristiansson Kati
- Kujala Urho
- Kulkarni Diptee
- Kuopio Teijo
- Kurki Mitja
- Laakkonen Eija
- Laakso Markku
- Laaksonen Reijo
- Laiho Pivi
- Laitinen Tarja
- Laivuori Hannele
- Landenper Sanni
- Lange Christoph
- Lange Ethan
- Lange Leslie
- Laukkanen Jari
- Laukkanen Markku
- Laurie Cathy C.
- Laurie Cecelia
- LeBoff Meryl
- Lee Jiwon
- Lee Seonwook
- Lee Seunggeun Shawn
- Lee Wen-Jane
- LeFaive Jonathon
- Lehisto Arto
- Lehtonen Anne
- Lehtonen Heli
- Lemaitre Rozenn N.
- Lemmel Susanna
- Lertratanaku Apinya
- Levine David
- Levy Dan
- Lewis Joshua
- Lhteenmki Sini
- Li Yun
- Lin Honghuang
- Lin Keng Han
- Lin Xihong
- Linden Kari
- Liu Jimmy
- Liu Simin
- Liu Yongmei
- Llorens Vincent
- Lloyd-Jones Don M.
- Loboda Andrey
- Loos Ruth J. F.
- Loukola Anu
- Lu Tim
- Lubitz Steven A.
- Lunetta Kathryn
- Luo James
- Luodonp Marja
- Lyhs Ulrike
- Mahaney Michael
- Make Barry
- Malarstig Anders
- Manichaikul Ani
- Mannermaa Arto
- Mansonl JoAnn
- Mantere Tuomo
- Maranville Joseph
- Margolin Lauren
- Mars Nina
- Marshall Catherine
- Martin Lisa W.
- Martinez Karine A. Viaud
- Matakidou Athena
- Mathai Susan
- Mathias Rasika A.
- Mattsson Hannele
- McArdle Patrick
- McCarthy Linda
- McCarthy Mark
- Mcdonald Merry-Lynn
- McDonough Stefan
- McFarland Sean
- McGarvey Stephen T.
- McHugh Caitlin
- Mehta Vinay
- Mei Hao
- Meretoja Tuomo
- Metcalf Ginger
- Metsrinne Kaj
- Meyers Deborah A.
- Michon John
- Mikulla Julie
- Miller Melissa
- Min Nancy
- Minear Mollie
- Minster Ryan L.
- Mitche Braxton D.
- Mkel Tomi
- Mnnikk Lotta
- Montasser May E.
- Moon Jee-Young
- Morrison Alanna C.
- Musani Solomon
- Muslin Anthony
- Muzny Donna
- Mwasongwe Stanford
- Mychaleckyj Josyf C.
- Nadkarni Girish
- Naik Rakhi
- Naseri Take
- Natarajan Pradeep
- Nekhai Sergei
- Nelson Sarah C.
- Nickerson Deborah
- Nickerson Deborah A.
- Niiranen Teemu
- North Kari E.
- Nunez-Fontarnau Javier
- Ochs-Balcom Heather
- Oh Danny
- Ollila Terhi
- Pakkanen Raimo
- Palin Kimmo
- Palmer Nicholette D.
- Palomki Antti
- Paloneva Juha
- Palotie Aarno
- Palotie Aarno
- Palta Priit
- Pampana Akhil
- Pankow James
- Papanicolaou George
- Park Cheol Joo
- Parkerl Margaret
- Parkkinen Jaakko
- Parolo Pietro Della Briotta
- Parsa Afshin
- Partanen Jukka
- Pelkonen Margit
- Peloso Gina M.
- Peltola Jukka
- Peltonen Sirkku
- Penchey Sara
- Peralta Juan M.
- Perez Marco
- Perola Markus
- Perry James A.
- Peters Ulrike
- Peterson Andrew
- Petrovski Slav
- Peyser Patricia A.
- Phillips Lawrence S.
- Phillips Sam
- Pihlajamki Jussi
- Pikkarainen Sampsa
- Piri Laura
- Pirruccello James P.
- Pitknen Kimmo
- Pitkranta Anne
- Plenge Robert
- Podgornaia Anna
- Pollin Toni
- Popovic Relja
- Post Wendy
- Preuss Michael
- Prn KaIle
- Prokopenko Dmitry
- Psat Bruce M. Y.
- Pulford David
- Pulkki Kari
- Pylks Katri
- Qasba Pankaj
- Qiao Dandi
- Quarless Danjuma
- Rafaels Nicholas
- Raffield Laura
- Rahimov Fedik
- Rao D. C.
- Rasmussen-Torvik Laura
- Ratan Aakrosh
- Redline Susan
- Reed Robert
- Reganl Elizabeth
- Reiner Alexander P.
- Remes Anne
- Reupena Muagututi Sefuiva
- Rice Ken
- Rich Stephen S.
- Riley-Gillis Bridget
- Rinne Juha
- Ripatti Samuli
- Ripatti Samuli
- Ritari Jarmo
- Rivas Manuel
- Roden Dan
- Roselli Carolina
- Rotten Jerome, I
- Ruczinski Ingo
- Runz Heiko
- Ruotsalainen Sanni E.
- Russel Pamela
- Ruuska Sarah
- Ryan Kathleen
- Sabino Ester Cerdeira
- Sakornsakolpatl Phuwanat
- Salmi Teea
- Salomaa Veikko
- Salzberg Steven
- Sandow Kevin
- Sankaran Vijay G.
- Savinainen Kimmo
- Scheller Christopher
- Schleutker Johanna
- Schmidt Ellen
- Schutzman Jennifer
- Schwander Karen
- Schwartz David
- Sciurba Frank
- Seidman Christine
- Seidman Jonathan
- Seitsonen Sanna
- Seo Daekwan
- Seo Jeong-Sun
- Shcherban Anastasia
- Sheehan Vivien
- Shetty Amol
- Shetty Aniket
- Sheu Wayne Hui-Heng
- Shoemaker M. Benjamin
- Siirtola Harri
- Silver Brian
- Silvermanl Edwin
- Sinisalo Juha
- Sipi Timo P.
- Sipil Tuomas
- Sistonen Tuuli
- Smaoui Nizar
- Smith Albert, V
- Smith Jennifer
- Smith Josh
- Smith Nicholas
- Smith Tanja
- Smoller Sylvia
- Snively Beverly
- Soferlm Tamar
- Soini Sirpa
- Soininen Hilkka
- Stilp Adrienne M.
- Strauss Erich
- Streeten Elizabeth
- Su Jessica Lasky
- Sung Yun Ju
- Sylvia Jody
- Sztalryd Carole
- Tabuenca Javier Gracia
- Taliun Daniel
- Tang Hua
- Tasanen Kaisa
- Taskinen Marja-Riitta
- Taub Margaret
- Taylor Kent D.
- Taylor Simeon
- Telen Marilyn
- Teng Edmond
- Thornton Timothy A.
- Tienari Pentti
- Tinker Lesley
- Tirschwel David
- Tiwari Hemant
- Tracy Russell P.
- Tsai Michael
- Tuomi Tiinamaija
- Tuovila Outi
- Turunen Joni
- Usiskin Keith
- Uusitalo Hannu
- Uusitalo-Jrvinen Hannele
- Vaidya Dhananjay
- Vainio Seppo
- VandeHaar Peter
- Vasan Ramachandran S.
- Virolainen Petri
- Voutilainen Markku
- Vrieze Scott
- Wahlfors Tiina
- Waits Avram
- Walker Tarik
- Wallace Robert
- Wan Emily
- Wang Clarence
- Wang Fei Fei
- Wang Heming
- Wang Xulong
- Waring Jeff
- Waring Jeffrey
- Waterworth Dawn
- Watson Karol
- Weeks Daniel E.
- Weir Bruce
- Weiss Scott
- Weng Lu-Chen
- Whelan Christopher
- Wilier Cristen
- Williams Kayleen
- Williams L. Keoki
- Wilson Carla
- Wilson James G.
- Wolford Brooke
- Wong Quenna
- Wong Regis
- Wu Ying
- Xu Ethan
- Xu Fanli
- Xu Huichun
- Yanek Lisa R.
- Yang Ivana
- Yang Robert
- Yang Rongze
- Zaghlou Norann
- Zekavat Maryam
- Zhang Yingze
- Zhao Snow Xueyan
- Zhao Wei
- Zhou Wei
- Zhou Xiang
- Zhu Xiaofeng
- Ziemann Adam
- Zni Degui
- Zody Michael
- Zoellner Sebastian
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study