Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis by van Es Michael A, van Vught Paul W J, Blauw Hylke M, Franke Lude, Saris Christiaan G J, Van den Bosch Ludo, de Jong Sonja W, de Jong Vianney, Baas Frank, van't Slot Ruben, Lemmens Robin, Schelhaas Helenius J, Birve Anna, Sleegers Kristel, Van Broeckhoven Christine, Schymick Jennifer C, Traynor Bryan J, Wokke John H J, Wijmenga Cisca, Robberecht Wim, Andersen Peter M, Veldink Jan H, Ophoff Roel A, van den Berg Leonard H in Nature genetics (2008).

[PMID: 18084291] PubMed


We identified a SNP in the DPP6 gene that is consistently strongly associated with susceptibility to amyotrophic lateral sclerosis (ALS) in different populations of European ancestry, with an overall P value of 5.04 x 10(-8) in 1,767 cases and 1,916 healthy controls and with an odds ratio of 1.30 (95% confidence interval (CI) of 1.18-1.43). Our finding is the first report of a genome-wide significant association with sporadic ALS and may be a target for future functional studies.

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