Molecular Genetics Section, and Cell Biology and Gene Expression Unit, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
Proc Natl Acad Sci U S A. 2010 Jul 6;107(27):12335-8. doi: 10.1073/pnas.0914079107. Epub 2010 Jun 21.
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.
最近有报道称，位于 1q24.2 染色体上的 rs1541160 通过影响 KIFAP3 表达对肌萎缩侧索硬化症 (ALS) 患者的生存有显著影响。该研究使用的队列是从 ALS 专科诊所收集的。我们试图在一个基于人群的 504 名意大利 ALS 患者队列中复制这些发现。在 KIFAP3 基因座内（包括 rs1541160）的 140 个 SNP 中，没有一个对生存（rs1541160 的对数秩 P 值=0.47）或该区域的基因表达有影响。这些数据说明了分析与 ALS 表型相关的关联时所涉及的复杂性。
