Yang Xinglong, Li Shimei, Xing Dongmei, Li Peiyun, Li Ci, Qi Ling, Xu Yanming, Ren Hui
a Department of Geriatric Neurology , First Affiliated Hospital of Kunming Medical University , Kunming , Yunan Province , P.R. China.
b Department of Neurology , West China Hospital, Sichuan University , Chengdu , Sichuan Province , P.R. China.
Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):80-86. doi: 10.1080/21678421.2017.1361444. Epub 2017 Aug 10.
Amyotrophic lateral sclerosis (ALS), the most common motor neuron disease, is thought to result from interaction of genetic and environmental risk factors. Whether the potentially functional exonic P413L variant in the chromogranin B gene influences ALS risk and age at onset is controversial.
We meta-analysed or other studies assessing the association between the P413L variant and ALS risk or age at ALS onset indexed in Web of Science, PubMed, Embase, Chinese National Knowledge Infrastructure, Wanfang, and SinoMed databases.
Five case-control studies were analysed, involving 2639 patients with sporadic ALS, 201 with familial ALS and 3381 controls. No association was detected between risk of either ALS type and the CT + TT genotype or T-allele of the P413L variant. Age at ALS onset was similar between carriers and non-carriers of the T-allele.
The available evidence suggests that the P413L variant of chromogranin B is not associated with ALS risk or age at ALS onset. These results should be validated in large, well-designed studies.
肌萎缩侧索硬化症（ALS）是最常见的运动神经元疾病，被认为是遗传和环境风险因素相互作用的结果。嗜铬粒蛋白B基因中潜在功能性外显子P413L变异是否会影响ALS风险和发病年龄存在争议。
我们对在Web of Science、PubMed、Embase、中国知网、万方和维普数据库中检索到的评估P413L变异与ALS风险或ALS发病年龄之间关联的其他研究进行了荟萃分析。
分析了五项病例对照研究，涉及2639例散发性ALS患者、201例家族性ALS患者和3381例对照。未检测到任何一种ALS类型的风险与P413L变异的CT + TT基因型或T等位基因之间存在关联。T等位基因携带者和非携带者的ALS发病年龄相似。
现有证据表明，嗜铬粒蛋白B的P413L变异与ALS风险或ALS发病年龄无关。这些结果应在大型、设计良好的研究中得到验证。
