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.

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

MOGLIA, CRISTINA;CALVO, Andrea;CHIO', Adriano
2010-01-01

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.
2010
107
12335
12338
Traynor BJ; Nalls M; Lai SL; Gibbs RJ; Schymick JC; Arepalli S; Hernandez D; van der Brug MP; Johnson JO; Dillman A; Cookson M; Moglia C; Calvo A; Restagno G; Mora G; Chiò A
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/74595
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