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

被引:9
|
作者
Chen, Chi-Jim [1 ]
Chen, Chien-Ming [1 ]
Pai, Tun-Wen [1 ]
Chang, Hao-Teng [2 ,3 ]
Hwang, Chi-Shin [4 ,5 ]
机构
[1] Natl Taiwan Ocean Univ, Dept Comp Sci & Engn, Keelung, Taiwan
[2] China Med Univ, Grad Inst Basic Med Sci, Taichung, Taiwan
[3] Asia Univ, Dept Comp Sci & Informat Engn, Taichung, Taiwan
[4] Taipei City Hosp, Dept Neurol, Taipei, Taiwan
[5] Natl Yang Ming Univ, Sch Med, Taipei, Taiwan
关键词
amyotrophic lateral sclerosis; genetic biomarker; genome-wide association study; Gene Ontology; neurodegenerative disease; CREUTZFELDT-JAKOB-DISEASE; SUSCEPTIBILITY LOCI; HEXANUCLEOTIDE REPEAT; CEREBROSPINAL-FLUID; ADHESION MOLECULES; PROTEIN; C9ORF72; GENE; ALS; PATHWAY;
D O I
10.2217/bmm.15.115
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
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.
引用
收藏
页码:597 / 611
页数:15
相关论文
共 50 条
  • [1] A genome-wide association study of amyotrophic lateral sclerosis
    Schymick, Jennifer
    Scholz, Sonja W.
    Britton, Angela
    Arepalli, Sampath
    Fung, Hon-Chung
    Gibbs, J. Raphael
    Gwinn-Hardy, Katrina
    Rothstein, Jeffrey
    Chio, Adriano
    Restagno, Gabriella
    Io, Frederica
    Singleton, Andrew
    Hardy, John
    Traynor, Byan
    NEUROLOGY, 2007, 68 (12) : A217 - A217
  • [2] Amyotrophic Lateral Sclerosis: Genome-wide association studies in amyotrophic lateral sclerosis
    Nicolas Dupré
    Paul Valdmanis
    European Journal of Human Genetics, 2009, 17 : 137 - 138
  • [3] Genome-wide association studies in amyotrophic lateral sclerosis
    Dupre, Nicolas
    Valdmanis, Paul
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (02) : 137 - 138
  • [4] A genome-wide association study of sporadic amyotrophic lateral sclerosis in Scotland
    Hayward, C
    Torrance, HS
    Brock, DJH
    Swingler, RJ
    Colville, S
    NEUROLOGY, 2000, 54 (07) : A426 - A426
  • [5] Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population
    Kuo, Po-Hsiu
    Chuang, Li-Chung
    Su, Mei-Hsin
    Chen, Chia-Hsiang
    Chen, Chien-Hsiun
    Wu, Jer-Yuarn
    Yen, Chung-Jen
    Wu, Yu-Yu
    Liu, Shih-Kai
    Chou, Miao-Chun
    Chou, Wen-Jiun
    Chiu, Yen-Nan
    Tsai, Wen-Che
    Gau, Susan Shur-Fen
    PLOS ONE, 2015, 10 (09):
  • [6] The largest genome-wide association study for breast cancer in Taiwanese Han population
    Yu-Ching Hsu
    Hung-Lin Chen
    Chi-Fung Cheng
    Amrita Chattopadhyay
    Pei-Shan Chen
    Che-Chen Lin
    Hsiu-Yin Chiang
    Ting-Yuan Liu
    Chi-Hao Huang
    Chin-Chi Kuo
    Eric Y. Chuang
    Tzu-Pin Lu
    Fuu-Jen Tsai
    Breast Cancer Research and Treatment, 2024, 203 : 291 - 306
  • [7] The largest genome-wide association study for breast cancer in Taiwanese Han population
    Hsu, Yu-Ching
    Chen, Hung-Lin
    Cheng, Chi-Fung
    Chattopadhyay, Amrita
    Chen, Pei-Shan
    Lin, Che-Chen
    Chiang, Hsiu-Yin
    Liu, Ting-Yuan
    Huang, Chi-Hao
    Kuo, Chin-Chi
    Chuang, Eric Y.
    Lu, Tzu-Pin
    Tsai, Fuu-Jen
    BREAST CANCER RESEARCH AND TREATMENT, 2024, 203 (02) : 291 - 306
  • [8] A genome-wide association study of sporadic amyotrophic lateral sclerosis in Japan.
    Fukushima, T
    Nakano, R
    Kikugawa, K
    Inuzuka, T
    Miyashita, A
    Kuwano, R
    Tsuji, S
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 468 - 468
  • [9] A genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations
    Xie, Tong
    Deng, Libin
    Mei, Puming
    Zhou, Yiyi
    Wang, Bo
    Zhang, Jie
    Lin, Jiari
    Wei, Yi
    Zhang, Xiong
    Xu, Renshi
    NEUROBIOLOGY OF AGING, 2014, 35 (07) : 1778.e9 - 1778.e23
  • [10] Genome-Wide Association Study for eGFR in a Taiwanese Population
    Chen, Ying-Chun
    Wong, Henry Sung-Ching
    Wu, Mei-Yi
    Chou, Wan-Hsuan
    Kao, Chih-Chin
    Chao, Ching-Hsuan
    Chang, Wei-Chiao
    Wu, Mai-Szu
    CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2022, 17 (11): : 1598 - 1608