title: 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.
authors.affiliation: 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
authors.forename: Bryan J
authors.initials: BJ
authors.lastname: Traynor
authors.forename: Michael
authors.initials: M
authors.lastname: Nalls
authors.forename: Shiao-Lin
authors.initials: SL
authors.lastname: Lai
authors.forename: Raphael J
authors.initials: RJ
authors.lastname: Gibbs
authors.forename: Jennifer C
authors.initials: JC
authors.lastname: Schymick
authors.forename: Sampath
authors.initials: S
authors.lastname: Arepalli
authors.forename: Dena
authors.initials: D
authors.lastname: Hernandez
authors.forename: Marcel P
authors.initials: MP
authors.lastname: van der Brug
authors.forename: Janel O
authors.initials: JO
authors.lastname: Johnson
authors.forename: Allissa
authors.initials: A
authors.lastname: Dillman
authors.forename: Mark
authors.initials: M
authors.lastname: Cookson
authors.forename: Cristina
authors.initials: C
authors.lastname: Moglia
authors.forename: Andrea
authors.initials: A
authors.lastname: Calvo
authors.forename: Gabriella
authors.initials: G
authors.lastname: Restagno
authors.forename: Gabriele
authors.initials: G
authors.lastname: Mora
authors.forename: Adriano
authors.initials: A
authors.lastname: Chiò
mesh_terms: 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
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; C484407:KIFAP3 protein, human