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 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.
Traynor
Bryan J
BJ
Molecular Genetics Section, and Cell Biology and Gene Expression Unit, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA. traynorb@mail.nih.gov
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
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics* / Q000378:metabolism; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000378:metabolism; D015153:Blotting, Western; D001921:Brain / Q000378:metabolism / Q000473:pathology; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D015331:Cohort Studies; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000378:metabolism; D020869:Gene Expression Profiling / Q000706:statistics & numerical data; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy; D053208:Kaplan-Meier Estimate; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D020133:Reverse Transcriptase Polymerase Chain Reaction
D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; C484407:KIFAP3 protein, human