Mutational scanning of the CHCHD2 gene in Han Chinese patients with Parkinson's disease and meta-analysis of the literature.

BACKGOUND: Building on recent evidence linking the CHCHD2 gene to both familial and sporadic Parkinson's disease (PD), we carried out a case-control study to examine possible associations between the CHCHD2 gene and PD.

METHOD: We sequenced all four coding regions, exon-intron boundaries, untranslated regions and flanking regions of CHCHD2 in 30 patients with familial disease, 554 patients with sporadic disease and 594 healthy controls. All subjects were Han Chinese from western China.

RESULTS: We detected the exonic variants p.Pro2Leu, p.Arg18Gln and p.Arg145Gln in six patients with sporadic PD respectively. The p.Pro2Leu variant was more frequent in patients than in controls, but the difference was not significant (OR 2.149, 95%CI 0.393 to 11.753, p = 0.366). Meta-analysis of our data with studies in the literature showed that p.Pro2Leu variants were associated with sporadic PD (OR 2.51, 95%CI 1.53 to 4.11, p = 0.0002), especially in Asian populations (OR 2.92, 95%CI 1.68 to 5.07, p = 0.0001).

CONCLUSION: Our results suggest that CHCHD2 exonic variants are rare among Chinese patients with PD. Meta-analysis of the literature, however, suggests that p.Pro2Leu variants are associated with sporadic disease, particularly in Asian populations.