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 - 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 -