Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Rheenen W, van; der Spek RAA, van; MK, Bakker; Vugt JJFA, van; PJ, Hop; RAJ, Zwamborn; Klein N, de; HJ, Westra; OB, Bakker; P, Deelen; G, Shireby; E, Hannon; M, Moisse; D, Baird; R, Restuadi; E, Dolzhenko; AM, Dekker; K, Gawor; HJ, Westeneng; GHP, Tazelaar; Eijk KR, van; M, Kooyman; RP, Byrne; M, Doherty; M, Heverin; Khleifat A, Al; A, Iacoangeli; A, Shatunov; N, Ticozzi; J, Cooper-Knock; BN, Smith; M, Gromicho; S, Chandran; S, Pal; KE, Morrison; PJ, Shaw; J, Hardy; RW, Orrell; M, Sendtner; T, Meyer; N, Başak; der Kooi AJ, van; A, Ratti; I, Fogh; C, Gellera; G, Lauria; S, Corti; C, Cereda; D, Sproviero; S, D'Alfonso; G, Sorarù; G, Siciliano; M, Filosto; A, Padovani; A, Chiò; A, Calvo; C, Moglia; M, Brunetti; A, Canosa; M, Grassano; E, Beghi; E, Pupillo; G, Logroscino; B, Nefussy; A, Osmanovic; A, Nordin; Y, Lerner; M, Zabari; M, Gotkine; RH, Baloh; S, Bell; P, Vourc'h; P, Corcia; P, Couratier; S, Millecamps; V, Meininger; F, Salachas; Pardina JS, Mora; A, Assialioui; R, Rojas-García; PA, Dion; JP, Ross; AC, Ludolph; JH, Weishaupt; D, Brenner; A, Freischmidt; G, Bensimon; A, Brice; A, Durr; CAM, Payan; S, Saker-Delye; NW, Wood; S, Topp; R, Rademakers; L, Tittmann; W, Lieb; A, Franke; S, Ripke; A, Braun; J, Kraft; DC, Whiteman; CM, Olsen; AG, Uitterlinden; A, Hofman; M, Rietschel; S, Cichon; MM, Nöthen; P, Amouyel; BJ, Traynor; AB, Singleton; Neto M, Mitne; RJ, Cauchi; RA, Ophoff; M, Wiedau-Pazos; C, Lomen-Hoerth; Deerlin VM, van; J, Grosskreutz; A, Roediger; N, Gaur; A, Jörk; T, Barthel; E, Theele; B, Ilse; B, Stubendorff; OW, Witte; R, Steinbach; CA, Hübner; C, Graff; L, Brylev; V, Fominykh; V, Demeshonok; A, Ataulina; B, Rogelj; B, Koritnik; J, Zidar; M, Ravnik-Glavač; D, Glavač; Z, Stević; V, Drory; M, Povedano; IP, Blair; MC, Kiernan; B, Benyamin; RD, Henderson; S, Furlong; S, Mathers; PA, McCombe; M, Needham; ST, Ngo; GA, Nicholson; R, Pamphlett; DB, Rowe; FJ, Steyn; KL, Williams; KA, Mather; PS, Sachdev; AK, Henders; L, Wallace; Carvalho M, de; S, Pinto; S, Petri; M, Weber; GA, Rouleau; V, Silani; CJ, Curtis; G, Breen; JD, Glass; RH Jr, Brown; JE, Landers; CE, Shaw; PM, Andersen; EJN, Groen; Es MA, van; RJ, Pasterkamp; D, Fan; FC, Garton; AF, McRae; Smith G, Davey; TR, Gaunt; MA, Eberle; J, Mill; RL, McLaughlin; O, Hardiman; KP, Kenna; NR, Wray; E, Tsai; H, Runz; L, Franke; A, Al-Chalabi; Damme P, Van; den Berg LH, van; JH, Veldink

doi:10.1038/s41588-021-00973-1

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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.

Shared by NobleBlocks on Dec 6, 2021 • 12:00 AM UTC

Authors:

van Rheenen W

van der Spek RAA

Bakker MK

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which iden...

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