https://scholars.lib.ntu.edu.tw/handle/123456789/520046
標題: | Lack of CHCHD2 mutations in Parkinson's disease in a Taiwanese population | 作者: | Fan T.-S. Lin H.-I. CHIN-HSIEN LIN RUEY-MEEI WU |
公開日期: | 2015 | 出版社: | Elsevier Inc. | 卷: | 38 | 起(迄)頁: | 218.e1-218.e2. | 來源出版物: | Neurobiology of Aging | 摘要: | A recent study identified a missense mutation in coiled-coil-helix-coiled-coil-helix domain-containing 2 (CHCHD2) gene, p. Thr61Ile, in a Japanese multigenerational family with autosomal dominant Parkinson's disease (PD). Subsequent analyses identified several genetic variants in this gene that contributed to increased risk of sporadic PD, making CHCHD2 a novel candidate gene associated with PD. However, independent studies are warranted to confirm the role of CHCHD2 in PD. Among 1433 participated subjects, we sequenced all exons and exon-intron boundaries of CHCHD2 from 137 probands with familial PD and 129 age/sex-matched controls. An additional 586 sporadic PD patients and another 581 independent controls were later screened to validate possible risk substitutions. We found no CHCHD2 mutations, but we observed 5 genetic variants, including p. Pro2Leu (rs142444896), a risk variant for sporadic PD in Japanese populations. However, we did not find any significant associations between p. Pro2Leu (rs142444896) and risk of PD in our study cohort (0.86% vs. 1.20%, p = 0.20). Our data suggest that genetic variants of CHCHD2 do not play a major role in our Taiwanese PD population. ? 2016 Elsevier Inc. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84951051504&doi=10.1016%2fj.neurobiolaging.2015.11.020&partnerID=40&md5=d543070e2cd9dcab71200f6df77351ad https://scholars.lib.ntu.edu.tw/handle/123456789/520046 |
ISSN: | 0197-4580 | DOI: | 10.1016/j.neurobiolaging.2015.11.020 | SDG/關鍵字: | leucine; proline; CHCHD2 protein, human; mitochondrial protein; transcription factor; adult; aged; Article; CHCHD2 gene; controlled study; exon; familial disease; female; gene; gene mutation; gene sequence; genetic association; genetic risk; genetic variability; human; major clinical study; male; Parkinson disease; priority journal; Taiwanese; very elderly; Asian continental ancestry group; cohort analysis; DNA sequence; dominant gene; genetic association study; genetics; mutation; risk; Taiwan; Asian Continental Ancestry Group; Cohort Studies; Exons; Genes, Dominant; Genetic Association Studies; Humans; Mitochondrial Proteins; Mutation; Risk; Sequence Analysis, DNA; Taiwan; Transcription Factors |
顯示於: | 醫學系 |
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