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Phenome-wide association studies across large population cohorts support drug target validation.
Diogo D, Tian C, Franklin CS, Alanne-Kinnunen M, March M, Spencer CCA, Vangjeli C, Weale ME, Mattsson H, Kilpeläinen E, Sleiman PMA, Reilly DF, McElwee J, Maranville JC, Chatterjee AK, Bhandari A, Nguyen KH, Estrada K, Reeve MP, Hutz J, Bing N, John S, MacArthur DG, Salomaa V, Ripatti S, Hakonarson H, Daly MJ, Palotie A, Hinds DA, Donnelly P, Fox CS, Day-Williams AG, Plenge RM, Runz H. Diogo D, et al. Among authors: kilpelainen e. Nat Commun. 2018 Oct 16;9(1):4285. doi: 10.1038/s41467-018-06540-3. Nat Commun. 2018. PMID: 30327483 Free PMC article.
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells.
Bao EL, Nandakumar SK, Liao X, Bick AG, Karjalainen J, Tabaka M, Gan OI, Havulinna AS, Kiiskinen TTJ, Lareau CA, de Lapuente Portilla AL, Li B, Emdin C, Codd V, Nelson CP, Walker CJ, Churchhouse C, de la Chapelle A, Klein DE, Nilsson B, Wilson PWF, Cho K, Pyarajan S, Gaziano JM, Samani NJ; FinnGen; 23andMe Research Team; Regev A, Palotie A, Neale BM, Dick JE, Natarajan P, O'Donnell CJ, Daly MJ, Milyavsky M, Kathiresan S, Sankaran VG. Bao EL, et al. Nature. 2020 Oct;586(7831):769-775. doi: 10.1038/s41586-020-2786-7. Epub 2020 Oct 14. Nature. 2020. PMID: 33057200 Free PMC article.
An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease.
Ruotsalainen SE, Partanen JJ, Cichonska A, Lin J, Benner C, Surakka I; FinnGen; Reeve MP, Palta P, Salmi M, Jalkanen S, Ahola-Olli A, Palotie A, Salomaa V, Daly MJ, Pirinen M, Ripatti S, Koskela J. Ruotsalainen SE, et al. Eur J Hum Genet. 2021 Feb;29(2):309-324. doi: 10.1038/s41431-020-00730-8. Epub 2020 Oct 27. Eur J Hum Genet. 2021. PMID: 33110245 Free PMC article.
Sleep apnoea is a risk factor for severe COVID-19.
Strausz S, Kiiskinen T, Broberg M, Ruotsalainen S, Koskela J, Bachour A; FinnGen; Palotie A, Palotie T, Ripatti S, Ollila HM. Strausz S, et al. BMJ Open Respir Res. 2021 Jan;8(1):e000845. doi: 10.1136/bmjresp-2020-000845. BMJ Open Respir Res. 2021. PMID: 33436406 Free PMC article.
Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes.
Cerqueira JXM, Saavalainen P, Kurppa K, Laurikka P, Huhtala H, Nykter M, L E Koskinen L, Yohannes DA, Kilpeläinen E, Shcherban A, Palotie A, Kaukinen K, Lindfors K. Cerqueira JXM, et al. Among authors: kilpelainen e. J Hum Genet. 2021 Jun;66(6):613-623. doi: 10.1038/s10038-020-00888-5. Epub 2021 Jan 15. J Hum Genet. 2021. PMID: 33446885 Free PMC article.
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, Ong JS, Hewitt AW, Segrè AV, Rouhana JM, Hamel AR, Igo RP Jr, Choquet H, Qassim A, Josyula NS, Cooke Bailey JN, Bonnemaijer PWM, Iglesias A, Siggs OM, Young TL, Vitart V, Thiadens AAHJ, Karjalainen J, Uebe S, Melles RB, Nair KS, Luben R, Simcoe M, Amersinghe N, Cree AJ, Hohn R, Poplawski A, Chen LJ, Rong SS, Aung T, Vithana EN; NEIGHBORHOOD consortium; ANZRAG consortium; Biobank Japan project; FinnGen study; UK Biobank Eye and Vision Consortium; GIGA study group; 23 and Me Research Team; Tamiya G, Shiga Y, Yamamoto M, Nakazawa T, Currant H, Birney E, Wang X, Auton A, Lupton MK, Martin NG, Ashaye A, Olawoye O, Williams SE, Akafo S, Ramsay M, Hashimoto K, Kamatani Y, Akiyama M, Momozawa Y, Foster PJ, Khaw PT, Morgan JE, Strouthidis NG, Kraft P, Kang JH, Pang CP, Pasutto F, Mitchell P, Lotery AJ, Palotie A, van Duijn C, Haines JL, Hammond C, Pasquale LR, Klaver CCW, Hauser M, Khor CC, Mackey DA, Kubo M, Cheng CY, Craig JE, MacGregor S, Wiggs JL. Gharahkhani P, et al. Nat Commun. 2021 Feb 24;12(1):1258. doi: 10.1038/s41467-020-20851-4. Nat Commun. 2021. PMID: 33627673 Free PMC article.
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection.
Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Wang C, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Bhattacharya R, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Kiryluk K, Neale B, Ionita-Laza I, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ; Biobank Japan Project; FinnGen Consortium; Terao C, Zhao H, Ebert BL, Reilly MP, Ganna A, Machiela MJ, Genovese G, Natarajan P. Zekavat SM, et al. Nat Med. 2021 Jun;27(6):1012-1024. doi: 10.1038/s41591-021-01371-0. Epub 2021 Jun 7. Nat Med. 2021. PMID: 34099924 Free PMC article.
38 results