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Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients.


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.

SUBMITTER: Traynor BJ 

PROVIDER: S-EPMC2901467 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature

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Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients.

Traynor Bryan J BJ   Nalls Michael M   Lai Shiao-Lin SL   Gibbs Raphael J RJ   Schymick Jennifer C JC   Arepalli Sampath S   Hernandez Dena D   van der Brug Marcel P MP   Johnson Janel O JO   Dillman Allissa A   Cookson Mark M   Moglia Cristina C   Calvo Andrea A   Restagno Gabriella G   Mora Gabriele G   Chiò Adriano A  

Proceedings of the National Academy of Sciences of the United States of America 20100621 27


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 ex  ...[more]

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