title: A genome-wide association study on amyotrophic lateral sclerosis in the Taiwanese Han population.
abstract: 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.
authors.affiliation: Department of Computer Science & Engineering, National Taiwan Ocean University, Keelung, Taiwan.
authors.forename: Chi-Jim
authors.initials: CJ
authors.lastname: Chen
authors.affiliation: Department of Computer Science & Engineering, National Taiwan Ocean University, Keelung, Taiwan.
authors.forename: Chien-Ming
authors.initials: CM
authors.lastname: Chen
authors.affiliation: Department of Computer Science & Engineering, National Taiwan Ocean University, Keelung, Taiwan.
authors.forename: Tun-Wen
authors.initials: TW
authors.lastname: Pai
authors.affiliation: Graduate Institute of Basic Medical Sciences, China Medical University, Taichung, Taiwan.|Department of Computer Science & Information Engineering, Asia University, Taichung, Taiwan.
authors.forename: Hao-Teng
authors.initials: HT
authors.lastname: Chang
authors.affiliation: Department of Neurology, Taipei City Hospital, Taipei, Taiwan.|School of Medicine, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Chi-Shin
authors.initials: CS
authors.lastname: Hwang
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D015415:Biomarkers / Q000378:metabolism; D016022:Case-Control Studies; D002880:Chromosomes, Human, Pair 11; D002882:Chromosomes, Human, Pair 13; D005260:Female; D056426:Genetic Loci; D015894:Genome, Human; D055106:Genome-Wide Association Study; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013624:Taiwan
chemical_list: D015415:Biomarkers
keywords: Gene Ontology; amyotrophic lateral sclerosis; genetic biomarker; genome-wide association study; neurodegenerative disease