作者
Michael A Van Es, Jan H Veldink, Christiaan GJ Saris, Hylke M Blauw, Paul WJ van Vught, Anna Birve, Robin Lemmens, Helenius J Schelhaas, Ewout JN Groen, Mark HB Huisman, Anneke J van der Kooi, Marianne de Visser, Caroline Dahlberg, Karol Estrada, Fernando Rivadeneira, Albert Hofman, Machiel J Zwarts, Perry TC van Doormaal, Dan Rujescu, Eric Strengman, Ina Giegling, Pierandrea Muglia, Barbara Tomik, Agnieszka Slowik, Andre G Uitterlinden, Corinna Hendrich, Stefan Waibel, Thomas Meyer, Albert C Ludolph, Jonathan D Glass, Shaun Purcell, Sven Cichon, Markus M Nöthen, H-Erich Wichmann, Stefan Schreiber, Sita HHM Vermeulen, Lambertus A Kiemeney, John HJ Wokke, Simon Cronin, Russell L McLaughlin, Orla Hardiman, Katsumi Fumoto, R Jeroen Pasterkamp, Vincent Meininger, Judith Melki, P Nigel Leigh, Christopher E Shaw, John E Landers, Ammar Al-Chalabi, Robert H Brown Jr, Wim Robberecht, Peter M Andersen, Roel A Ophoff, Leonard H van den Berg
发表日期
2009/10
期刊
Nature genetics
卷号
41
期号
10
页码范围
1083-1087
出版商
Nature Publishing Group US
简介
We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 × 10−4 in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 × 10−9. This SNP showed robust replication in the second cohort (P = 1.86 × 10−6), and a combined analysis over the two stages yielded P = 2.53 × 10−14. The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 × 10−9, and rs3849942, with P = 1.01 × 10−8) in the …
引用总数
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MA Van Es, JH Veldink, CGJ Saris, HM Blauw… - Nature genetics, 2009