Fan T.-S.Lin H.-I.CHIN-HSIEN LINRUEY-MEEI WU2020-11-032020-11-0320150197-4580https://www.scopus.com/inward/record.uri?eid=2-s2.0-84951051504&doi=10.1016%2fj.neurobiolaging.2015.11.020&partnerID=40&md5=d543070e2cd9dcab71200f6df77351adhttps://scholars.lib.ntu.edu.tw/handle/123456789/520046A 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.[SDGs]SDG3leucine; 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 Factorsjournal article10.1016/j.neurobiolaging.2015.11.020267254632-s2.0-84951051504