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
Date Issued
2000
Date
2000
Author(s)
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DOI
892314B002143
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.
Subjects
Parkinson's disease
monoamine oxidase B
catechol-O-methyltransferase
genetic
polymorphism
polymorphism
Publisher
臺北市：國立臺灣大學醫學院神經科
Type
journal article
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