Ricci Claudia, Battistini Stefania, Avemaria Francesca, Benigni Michele, Tarlarini Claudia, Giannini Fabio, Corbo Massimo, Lunetta Christian, Penco Silvana
Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy.
Gene. 2015 Sep 1;568(2):186-9. doi: 10.1016/j.gene.2015.05.040. Epub 2015 May 19.
Chromogranins were reported to interact specifically with mutant forms of superoxide dismutase that are linked to amyotrophic lateral sclerosis (ALS). Particularly, a variation c.1238C>T (p.Pro413Leu) in the chromogranin B gene, CHGB, has been associated with an earlier age at onset in both familial and sporadic ALS in French/French-Canadian populations studied. The aim of our study was to evaluate the P413L chromogranin variation in Italian patients with sporadic ALS. The study included 366 Italian patients with sporadic ALS and 382 control subjects. Genotyping of the polymorphism P413L in the CHGB gene was performed and the clinical characteristics of patients were analyzed in relation to their genotype. Our study on a cohort of Italian patients with SALS and controls failed to confirm an increased frequency of the 413L variant in SALS patients. Furthermore, we did not confirm the previous observation of a difference of age at onset between T-allele carriers and non-carriers (median age of onset 58.5 vs. 60.2years of age, respectively). Our findings do not support the 413L variant as a risk factor for sporadic ALS in the Italian population.
据报道，嗜铬粒蛋白与肌萎缩侧索硬化症（ALS）相关的超氧化物歧化酶突变形式特异性相互作用。特别是，嗜铬粒蛋白B基因（CHGB）中的一个变异c.1238C>T（p.Pro413Leu），在法国/法裔加拿大人群的家族性和散发性ALS中，都与发病年龄较早有关。我们研究的目的是评估意大利散发性ALS患者中P413L嗜铬粒蛋白变异情况。该研究纳入了366例意大利散发性ALS患者和382例对照受试者。对CHGB基因中P413L多态性进行基因分型，并根据患者的基因型分析其临床特征。我们对一组意大利散发性ALS患者和对照的研究未能证实SALS患者中413L变异频率增加。此外，我们也未证实之前观察到的T等位基因携带者和非携带者之间发病年龄的差异（发病年龄中位数分别为58.5岁和60.2岁）。我们的研究结果不支持413L变异是意大利人群散发性ALS风险因素的观点。
