Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients.
retrospective_cohort · Level III
Where this comes from
- Record sourced from PubMed, PMID 20566859.
- Also identified by DOI 10.1073/pnas.0914079107 and PMC identifier 2901467.
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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.
Medical subject headings
- Adaptor Proteins, Signal Transducing
- Amyotrophic Lateral Sclerosis
- Cytoskeletal Proteins
- Polymorphism, Single Nucleotide