TY - JOUR
T1 - Association of SOD2 p.V16A polymorphism with Parkinson's disease
T2 - A meta-analysis in Han Chinese
AU - Wu, Yih Ru
AU - Chang, Kuo Hsuan
AU - Chao, Chih Ying
AU - Lin, Chih Hsin
AU - Chen, Yi Chun
AU - Liu, Tsai Wei
AU - Lee-Chen, Guey Jen
AU - Chen, Chiung Mei
N1 - Funding Information:
The authors thank for the statistical assistance and acknowledge the support of the Maintenance Project of the Center for Big Data Analytics and Statistics (Grant CLRPG3D0045 ) at Chang Gung Memorial Hospital for statistical consultation and data analysis. This study was sponsored by Chang Gung Memorial Hospital , Taipei, Taiwan ( CMRPG3F0981-2 ), and National Science Council, Executive Yuan , Taiwan ( NSC102-2314-B-182A-113-MY2 ).
Funding Information:
The authors thank for the statistical assistance and acknowledge the support of the Maintenance Project of the Center for Big Data Analytics and Statistics (Grant CLRPG3D0045) at Chang Gung Memorial Hospital for statistical consultation and data analysis. This study was sponsored by Chang Gung Memorial Hospital, Taipei, Taiwan (CMRPG3F0981-2), and National Science Council, Executive Yuan, Taiwan (NSC102-2314-B-182A-113-MY2).
Publisher Copyright:
© 2020 Formosan Medical Association
PY - 2021/1
Y1 - 2021/1
N2 - Background: Oxidative stress could participate in the pathogenesis of Parkinson's disease (PD). However, the role of genetic variation of superoxide dismutase 2 (SOD2), an important regulator against oxidative stress, in PD remains to be elucidated. Methods: We screened SOD2 gene variation by sequencing cDNA from 72 patients with early onset PD. A cohort of PD (n = 609) and ethnically matched controls (n = 681) were further examined for the identified sequence variant by PCR and NaeI restriction analysis. Results: Only a reported c.47T>C polymorphism (rs4880, SOD2 p.V16A) was found by cDNA sequencing. Case-control study of c.47T>C revealed that genotype and allele frequencies were in Hardy–Weinberg equilibrium in both patients and healthy controls. In a recessive model, those with CC genotype had a 2.61-fold increased risk of PD (95% CI: 1.08–6.30, P = 0.03) compared to subjects with TT and TC genotypes. Significant association between CC genotype and PD in non-smokers was also observed after stratification according to the history of smoking (3.54-fold increased risk of PD, 95% CI: 1.17–10.72, P = 0.02). Meta-analysis by combining studies of Chinese in China, Singapore, and Taiwan (total 2302 cases and 2029 controls) consistently showed CC genotype with increased risk of PD (OR = 1.77, 95% CI: 1.15–2.71, P = 0.01). Conclusion: Our findings demonstrate that SOD2 p.V16A may play a role in the susceptibility of PD in Han Chinese.
AB - Background: Oxidative stress could participate in the pathogenesis of Parkinson's disease (PD). However, the role of genetic variation of superoxide dismutase 2 (SOD2), an important regulator against oxidative stress, in PD remains to be elucidated. Methods: We screened SOD2 gene variation by sequencing cDNA from 72 patients with early onset PD. A cohort of PD (n = 609) and ethnically matched controls (n = 681) were further examined for the identified sequence variant by PCR and NaeI restriction analysis. Results: Only a reported c.47T>C polymorphism (rs4880, SOD2 p.V16A) was found by cDNA sequencing. Case-control study of c.47T>C revealed that genotype and allele frequencies were in Hardy–Weinberg equilibrium in both patients and healthy controls. In a recessive model, those with CC genotype had a 2.61-fold increased risk of PD (95% CI: 1.08–6.30, P = 0.03) compared to subjects with TT and TC genotypes. Significant association between CC genotype and PD in non-smokers was also observed after stratification according to the history of smoking (3.54-fold increased risk of PD, 95% CI: 1.17–10.72, P = 0.02). Meta-analysis by combining studies of Chinese in China, Singapore, and Taiwan (total 2302 cases and 2029 controls) consistently showed CC genotype with increased risk of PD (OR = 1.77, 95% CI: 1.15–2.71, P = 0.01). Conclusion: Our findings demonstrate that SOD2 p.V16A may play a role in the susceptibility of PD in Han Chinese.
KW - Meta-analysis
KW - Parkinson's disease
KW - SOD2 p.V16A
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U2 - 10.1016/j.jfma.2020.06.023
DO - 10.1016/j.jfma.2020.06.023
M3 - Article
C2 - 32620460
AN - SCOPUS:85087364537
SN - 0929-6646
VL - 120
SP - 501
EP - 507
JO - Journal of the Formosan Medical Association
JF - Journal of the Formosan Medical Association
IS - 1
ER -