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

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 speciality clinics. We attempted to replicate these findings in a popu...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 2010-07, Vol.107 (27), p.12335-12338
Main Authors: Traynor, Bryan J., Nalls, Michael, Lai, Shiao-Lin, Gibbs, Raphael J., Schymick, Jennifer C., Arepalli, Sampath, Hernandez, Dena, van der Brug, Marcel P., Johnson, Janel O., Dillman, Allissa, Cookson, Mark, Moglia, Cristina, Calvo, Andrea, Restagno, Gabriella, Mora, Gabriele, Chiò, Adriano, Cleveland, Don W.
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing - genetics
Adaptor Proteins, Signal Transducing - metabolism
Amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - genetics
Amyotrophic Lateral Sclerosis - metabolism
Antibodies
Biological Sciences
Blotting, Western
Brain - metabolism
Brain - pathology
Chromosomes
Chromosomes, Human, Pair 1 - genetics
Cohort Studies
Cytoskeletal Proteins - genetics
Cytoskeletal Proteins - metabolism
Gene expression
Gene Expression Profiling - statistics & numerical data
Gene Frequency
Genetic loci
Genetic Predisposition to Disease
Genotype
Genotype & phenotype
Genotypes
Humans
Italy
Kaplan-Meier Estimate
Medical genetics
Neurology
Patients
Phenotype
Polymorphism, Single Nucleotide
Proteins
Quantitative trait loci
Reverse Transcriptase Polymerase Chain Reaction
Survival analysis
Tissue samples
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Summary: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 speciality 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.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.0914079107