Session Information
Date: Tuesday, June 21, 2016
Session Title: Parkinson's disease: Genetics
Session Time: 12:30pm-2:00pm
Location: Exhibit Hall located in Hall B, Level 2
Objective: To evaluate the genetic mutations of CHCHD2 gene in Taiwanese Parkinson’s disease patients.
Background: 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.
Methods: 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.
Results: 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)
| PD patients with family history N=137 | Control N=129 | OR (95% CI) | P value | |
| c.C5T (p.P2L) rs142444896 | ||||
| CC | 135 (98.5) | 127 (98.4) | – | |
| CT | 2 (1.5) | 2 (1.6) | 0.94 (0.13-6.78) | 0.95 |
| TT | 0 (0) | 0 (0) | ||
| c.C249T (p.G83G), novel variant | ||||
| CC | 137 (100) | 128 (99.2) | – | |
| CT | 0 (0) | 1 (0.8) | 0.98 (0.06-15.91) | 0.30 |
| TT | 0 (0) | 0 (0) | ||
| 3’UTR +125G>A, rs8406 | ||||
| AA | 125 (91.2) | 120 (93.0) | – | |
| AG | 12 (8.8) | 9 (7.0) | 1.28 (0.52-3.15) | 0.59 |
| GG | 0 (0) | 0 (0) | ||
| 3’UTR +179T>C, novel variant | ||||
| TT | 133 (97.1) | 128 (99.2) | – | |
| TC | 4 (2.9) | 1 (0.8) | 3.84 (0.42-34.91) | 0.20 |
| CC | 0 (0) | 0 (0) | ||
| intronic +300A>G, novel variant | ||||
| AA | 136 (97.3) | 128 (99.2) | – | |
| AG | 1 (0.7) | 1 (0.8) | 0.94 (0.06-15.21) | 0.97 |
| GG | 0 (0) | 0 (0) |
Conclusions: Our data suggest that genetic variants of CHCHD2 do not play a major role in our Taiwanese PD population.
To cite this abstract in AMA style:
T.S. Fan, H.I. Lin, C.H. Lin, R.M. Wu. Genetic analysis of CHCHD2 gene in Parkinson’s disease in a Taiwanese population [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/genetic-analysis-of-chchd2-gene-in-parkinsons-disease-in-a-taiwanese-population/. Accessed June 14, 2025.« Back to 2016 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/genetic-analysis-of-chchd2-gene-in-parkinsons-disease-in-a-taiwanese-population/