Investigation on modulation of DNA repair pathways in Chinese MJD patients

It has been reported that DNA repair pathways could modify age at onset (AO) in Huntington disease (HD) and spinocerebellar ataxias. We genotyped 22 SNPs from DNA repair pathways in a large cohort of 798 Chinese Machado-Joseph disease patients to investigate the association with AO, and no significa...

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Bibliographic Details
Published in:Neurobiology of aging 2018-11, Vol.71, p.267.e5-267.e6
Main Authors: Wang, Chunrong, Chen, Zhao, Peng, Huirong, Peng, Yun, Zhou, Xin, Yang, Huihua, Wang, Puzhi, Li, Tianjiao, Hou, Xiaocan, Qiu, Rong, Xia, Kun, Sequeiros, Jorge, Tang, Beisha, Jiang, Hong
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age at onset
Age of Onset
Aged
Asian Continental Ancestry Group - genetics
Child
China
Cohort Studies
DNA Repair
DNA repair pathways
Female
Gene Frequency
Genetic modifiers
Genotype
Humans
Machado-Joseph Disease - genetics
Male
Middle Aged
Polymorphism, Single Nucleotide
Spinocerebellar ataxia
Young Adult
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Summary:It has been reported that DNA repair pathways could modify age at onset (AO) in Huntington disease (HD) and spinocerebellar ataxias. We genotyped 22 SNPs from DNA repair pathways in a large cohort of 798 Chinese Machado-Joseph disease patients to investigate the association with AO, and no significant finding was observed. Our findings did not provide a strong evidence for the modulatory effect of DNA repair pathways on the AO of Chinese Machado-Joseph disease patients. Further analyses with more representative DNA repair–related SNPs in different populations are needed to identify new potential genetic modifiers.
ISSN:0197-4580
1558-1497
DOI:10.1016/j.neurobiolaging.2018.06.024