C9orf72
额颞叶变性
失智症
肌萎缩侧索硬化
三核苷酸重复扩增
遗传学
基因型
遗传关联
生物
医学
基因
肿瘤科
疾病
内科学
等位基因
单核苷酸多态性
痴呆
作者
Serena Lattante,Isabelle Le Ber,Daniela Galimberti,María Serpente,Sophie Rivaud-Péchoux,Agnès Camuzat,Fabienne Clot,Chiara Fenoglio,Elio Scarpini,Alexis Brice,Edor Kabashi
标识
DOI:10.1016/j.neurobiolaging.2014.06.023
摘要
TMEM106B was identified as a risk factor for frontotemporal lobar degeneration (FTD) with TAR DNA-binding protein 43 kDa inclusions. It has been reported that variants in this gene are genetic modifiers of the disease and that this association is stronger in patients carrying a GRN mutation or a pathogenic expansion in chromosome 9 open reading frame 72 (C9orf72) gene. Here, we investigated the contribution of TMEM106B polymorphisms in cohorts of FTD and FTD with amyotrophic lateral sclerosis patients from France and Italy. Patients carrying the C9orf72 expansion (n = 145) and patients with GRN mutations (n = 76) were compared with a group of FTD patients (n = 384) negative for mutations and to a group of healthy controls (n = 552). In our cohorts, the presence of the C9orf72 expansion did not correlate with TMEM106B genotypes but the association was very strong in individuals with pathogenic GRN mutations (p = 9.54 × 10(-6)). Our data suggest that TMEM106B genotypes differ in FTD patient cohorts and strengthen the protective role of TMEM106B in GRN carriers. Further studies are needed to determine whether TMEM106B polymorphisms are associated with other genetic causes for FTD, including C9orf72 repeat expansions.
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