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Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients |
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| Authors: | Bryan J. Traynor Michael Nalls Shiao-Lin Lai Raphael J. Gibbs Jennifer C. Schymick Sampath Arepalli Dena Hernandez Marcel P. van der Brug Janel O. Johnson Allissa Dillman Mark Cookson Cristina Moglia Andrea Calvo Gabriella Restagno Gabriele Mora Adriano Chiò |
| Abstract: | It was recently reported that rs1541160 on chromosome 1q24.2 has a marked effect on survival of amyotrophic lateral sclerosis (ALS) patients by influencing KIFAP3 expression. The cohorts used in that study were collected from ALS specialty clinics. We attempted to replicate these findings in a population-based cohort of 504 Italian ALS patients. None of 140 SNPs genotyped within the KIFAP3 locus (including rs1541160) had an effect on survival (log-rank P value for rs1541160 = 0.47) or on gene expression in that region. These data illustrate the complexities associated with analyzing ALS phenotypes for association. |
| Keywords: | amyotrophic lateral sclerosis Italian survival analysis genome-wide association study gene expression quantitative trait loci mapping |