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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cich… See abstract for full author list ➔ van Rheenen W, et al. Among authors: henders ak. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Common sequence variants on 20q11.22 confer melanoma susceptibility.
Brown KM, Macgregor S, Montgomery GW, Craig DW, Zhao ZZ, Iyadurai K, Henders AK, Homer N, Campbell MJ, Stark M, Thomas S, Schmid H, Holland EA, Gillanders EM, Duffy DL, Maskiell JA, Jetann J, Ferguson M, Stephan DA, Cust AE, Whiteman D, Green A, Olsson H, Puig S, Ghiorzo P, Hansson J, Demenais F, Goldstein AM, Gruis NA, Elder DE, Bishop JN, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Martin NG, Trent JM, Mann GJ, Hayward NK. Brown KM, et al. Among authors: henders ak. Nat Genet. 2008 Jul;40(7):838-40. doi: 10.1038/ng.163. Epub 2008 May 18. Nat Genet. 2008. PMID: 18488026 Free PMC article.
Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.
Benyamin B, Ferreira MA, Willemsen G, Gordon S, Middelberg RP, McEvoy BP, Hottenga JJ, Henders AK, Campbell MJ, Wallace L, Frazer IH, Heath AC, de Geus EJ, Nyholt DR, Visscher PM, Penninx BW, Boomsma DI, Martin NG, Montgomery GW, Whitfield JB. Benyamin B, et al. Among authors: henders ak. Nat Genet. 2009 Nov;41(11):1173-5. doi: 10.1038/ng.456. Epub 2009 Oct 11. Nat Genet. 2009. PMID: 19820699 Free PMC article.
Sequence variants in three loci influence monocyte counts and erythrocyte volume.
Ferreira MA, Hottenga JJ, Warrington NM, Medland SE, Willemsen G, Lawrence RW, Gordon S, de Geus EJ, Henders AK, Smit JH, Campbell MJ, Wallace L, Evans DM, Wright MJ, Nyholt DR, James AL, Beilby JP, Penninx BW, Palmer LJ, Frazer IH, Montgomery GW, Martin NG, Boomsma DI. Ferreira MA, et al. Among authors: henders ak. Am J Hum Genet. 2009 Nov;85(5):745-9. doi: 10.1016/j.ajhg.2009.10.005. Epub 2009 Oct 22. Am J Hum Genet. 2009. PMID: 19853236 Free PMC article.
Common variants in the trichohyalin gene are associated with straight hair in Europeans.
Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, Gordon SD, Ferreira MA, Wright MJ, Henders AK, Campbell MJ, Duffy DL, Hansell NK, Macgregor S, Slutske WS, Heath AC, Montgomery GW, Martin NG. Medland SE, et al. Among authors: henders ak. Am J Hum Genet. 2009 Nov;85(5):750-5. doi: 10.1016/j.ajhg.2009.10.009. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896111 Free PMC article.
Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.
Ferreira MA, Mangino M, Brumme CJ, Zhao ZZ, Medland SE, Wright MJ, Nyholt DR, Gordon S, Campbell M, McEvoy BP, Henders A, Evans DM, Lanchbury JS, Pereyra F; International HIV Controllers Study; Walker BD, Haas DW, Soranzo N, Spector TD, de Bakker PI, Frazer IH, Montgomery GW, Martin NG. Ferreira MA, et al. Am J Hum Genet. 2010 Jan;86(1):88-92. doi: 10.1016/j.ajhg.2009.12.008. Epub 2009 Dec 31. Am J Hum Genet. 2010. PMID: 20045101 Free PMC article.
Common SNPs explain a large proportion of the heritability for human height.
Yang J, Benyamin B, McEvoy BP, Gordon S, Henders AK, Nyholt DR, Madden PA, Heath AC, Martin NG, Montgomery GW, Goddard ME, Visscher PM. Yang J, et al. Among authors: henders ak. Nat Genet. 2010 Jul;42(7):565-9. doi: 10.1038/ng.608. Epub 2010 Jun 20. Nat Genet. 2010. PMID: 20562875 Free PMC article.
181 results