title: Lack of CHCHD2 mutations in Parkinson's disease in a Taiwanese population.
abstract: 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.
authors.affiliation: Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
authors.forename: Tian-Sin
authors.initials: TS
authors.lastname: Fan
authors.affiliation: Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
authors.forename: Hang-I
authors.initials: HI
authors.lastname: Lin
authors.affiliation: Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address: chlin@ntu.edu.tw.
authors.forename: Chin-Hsien
authors.initials: CH
authors.lastname: Lin
authors.affiliation: Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
authors.forename: Ruey-Meei
authors.initials: RM
authors.lastname: Wu
mesh_terms: D044466:Asian People / Q000235:genetics; D015331:Cohort Studies; D004268:DNA-Binding Proteins; D005091:Exons / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D056726:Genetic Association Studies; D006801:Humans; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D012306:Risk; D017422:Sequence Analysis, DNA; D013624:Taiwan; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C580880:CHCHD2 protein, human; D004268:DNA-Binding Proteins; D024101:Mitochondrial Proteins; D014157:Transcription Factors
keywords: Autosomal dominant; CHCHD2; Coiled-coil-helix-coiled-coil-helix domain containing 2; Genetic risk; Parkinson disease