Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

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Doormaal, P.T. van
Ticozzi, N.
Gellera, C.
Ratti, A.
Taroni, F.
Chio, A.
Calvo, A.
Mora, G.
Restagno, G.
Traynor, B.J.

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Sporadic amyotrophic lateral sclerosis is a multifactorial disease of environmental and genetic origin. In a previous large multicenter genome wide study, common genetic variation in the Kinesin-Associated Protein 3 (KIFAP3) gene (rs1541160) was reported to have a significant effect on survival in amyotrophic lateral sclerosis patients. However, this could not be replicated in 3 smaller independent cohorts. We conducted a large multicenter multivariate survival analysis (n = 2362) on the effect of genetic variation in rs1541160. The previously reported beneficial genotype did not show a significant improvement in survival in this patient group.

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