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Since 1993, more than 20 genes have been found to be implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS).1 Recent studies have shown that C9orf72, SOD1, TARDBP and FUS are the most common mutated genes in ALS in Caucasian populations; these genes are considered major ALS-related genes.2–6 However, the genetic patterns of ALS in mainland China remain obscure. Therefore, we screened mutations in the major ALS genes in a large cohort of patients with ALS from mainland China. We also compared our results with those reported by previous population-based studies to assess the disease heterogeneity across populations.
The study enrolled 20 familial ALS (FALS) index cases, 324 patients with sporadic ALS (SALS) and 355 control subjects from Peking Union Medical College Hospital, between July 2011 and June 2012. The clinical characteristics of the patients with ALS were summarised in online supplementary table S1. All patients and control subjects were screened for mutations in SOD1, FUS, TARDBP, ANG, VCP and PFN1 genes, as well as for the presence of the GGGGCC expansions in the C9orf72 gene. An extensive review of the literature was also performed to determine the mutation frequencies of major ALS-related genes in mainland China. Full methods, materials, primers and amplification conditions for genetic sequencing are summarised in online supplementary table S2. The burden of mutations across SOD1, ANG, TARDBP, FUS and C9orf72 within mainland Chinese was compared to that within Caucasian populations using allele count-based Fisher exact tests.
Genetic screening showed …