CYP1A1,CYP2E1,COMT及MAO-B基因之多形性與巴金森氏病易感性之相關研究

Abstract

Reports suggest that COMTL/L (Val158/Met) and MAOB intron 13 genotype polymorphism is associated with Parkinson’s disease (PD). To understand the ethnicityspecific effects of genetic polymorphism, we performed a case-control study of the association between PD susceptibility and polymorphism of MAOB and COMT, both separately and in combination, in Taiwanese. Methods: 224 PD patients and 197 controls, matched for age, gender, and birthplace, were recruited. MAOB and COMT polymorphism genotyping was performed using PCR-based RFLP analyses. Chi-square, odds ratio, and Fisher’s exact tests were used to compare differences in allelic frequencies and genotypes. Results: The MAOBG genotype (G in men and G/G in women) was associated with a 2.07-fold increased relative risk of PD. COMT polymorphism, considered alone, showed no correlation with PD risk; however, a significant synergistic enhancement was found in PD patients harboring both the COMTL and MAOB G genotypes. Conclusions: These results suggest that, in Taiwanese, PD risk is associated with MAOB G intron 13 polymorphism and this association is augmented in the presence of the COMTL genotype, indicating an interaction of these two dopamine metabolizing enzymes in the pathogenesis of sporadic PD. However, the relatively low frequencies of these combined genotypes in our study necessitates confirmation with a larger sample size.