Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients
Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients
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DOI：
10.1073/pnas.0914079107
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发表时间：
2010-07-06
影响因子：
11.1
通讯作者：
Chio, Adriano
中科院分区：
文献类型：
--
作者：
Traynor, Bryan J.;Nalls, Michael;Chio, Adriano
最近有报道称，染色体1q24.2上的rs1541160通过影响KIFAP 3的表达对肌萎缩侧索硬化症（ALS）患者的生存具有显著影响。该研究中使用的队列收集自ALS专科诊所。我们试图在504名意大利ALS患者的人群队列中复制这些发现。在KIFAP 3基因座（包括rs1541160）内基因分型的140个SNP中没有一个对生存率（rs1541160的对数秩P值= 0.47）或该区域的基因表达有影响。这些数据说明了与分析ALS表型相关的复杂性。
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.