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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Signal Transducing / genetics*
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Adaptor Proteins, Signal Transducing / metabolism
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Amyotrophic Lateral Sclerosis / genetics*
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Amyotrophic Lateral Sclerosis / metabolism
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Blotting, Western
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Brain / metabolism
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Brain / pathology
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Chromosomes, Human, Pair 1 / genetics
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Cohort Studies
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Cytoskeletal Proteins / genetics*
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Cytoskeletal Proteins / metabolism
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Gene Expression Profiling / statistics & numerical data
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Gene Frequency
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Genetic Predisposition to Disease
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Genotype
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Humans
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Italy
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Kaplan-Meier Estimate
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Phenotype
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Polymorphism, Single Nucleotide*
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Reverse Transcriptase Polymerase Chain Reaction
Substances
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Adaptor Proteins, Signal Transducing
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Cytoskeletal Proteins
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KIFAP3 protein, human