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

PTC Van Doormaal, N Ticozzi, C Gellera, A Ratti… - Neurobiology of …, 2014 - Elsevier
PTC Van Doormaal, N Ticozzi, C Gellera, A Ratti, F Taroni, A Chiò, A Calvo, G Mora…
Neurobiology of aging, 2014Elsevier
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 …
Abstract
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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