A genome-wide association study on amyotrophic lateral sclerosis in the Taiwanese Han population

作者：Chen Chi Jim; Chen Chien Ming; Pai Tun Wen; Chang Hao Teng; Hwang Chi Shin

来源：Biomarkers in Medicine, 2016, 10(6): 597-611.

DOI：10.2217/bmm.15.115

• amyotrophic lateral sclerosis
• genetic biomarker
• genome-wide association study
• Gene Ontology
• neurodegenerative disease

Identification of mutations in patients with amyotrophic lateral sclerosis (ALS) in a genome-wide association study can reveal possible biomarkers of such a rapidly progressive and fatal neurodegenerative disease. It was observed that significant single nucleotide polymorphisms vary when the tested population changes from one ethnic group to another. To identify new loci associated with ALS susceptibility in the Taiwanese Han population, we performed a genome-wide association study on 94 patients with sporadic ALS and 376 matched controls. We uncovered two new susceptibility loci at 13q14.3 (rs2785946) and 11q25 (rs11224052). In addition, we analyzed the functions of all the associated genes among 54 significant single nucleotide polymorphisms using Gene Ontology annotations, and the results showed several statistically significant neural-and muscle-related Gene Ontology terms and the associated diseases.

• 出版日期2016-6
• 单位中国医科大学