OBJECTIVE: Reports suggest that catechol-O-methyltransferase (COMT(L/L)) (Val(158)/Met) and monoamine oxidase B (MAOB) intron 13 genotype polymorphism is associated with PD. To understand the ethnicity-specific 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: Two hundred twenty-four patients with PD and 197 controls, matched for age, sex, and birthplace, were recruited. MAOB and COMT polymorphism genotyping was performed by using PCR-based restriction fragment length polymorphism (RFLP) analyses. chi(2), OR, and Fisher's exact tests were used to compare differences in allelic frequencies and genotypes. RESULTS: The MAOB G 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 COMT(L) 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 COMT(L) 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.
OBJECTIVE: Reports suggest that catechol-O-methyltransferase (COMT(L/L)) (Val(158)/Met) and monoamine oxidase B (MAOB) intron 13 genotype polymorphism is associated with PD. To understand the ethnicity-specific 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: Two hundred twenty-four patients with PD and 197 controls, matched for age, sex, and birthplace, were recruited. MAOB and COMT polymorphism genotyping was performed by using PCR-based restriction fragment length polymorphism (RFLP) analyses. chi(2), OR, and Fisher's exact tests were used to compare differences in allelic frequencies and genotypes. RESULTS: The MAOB G 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 PDpatients harboring both the COMT(L) 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 COMT(L) 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.
Authors: Xiaoyi Gao; Eden R Martin; Yutao Liu; Gregory Mayhew; Jeffery M Vance; William K Scott Journal: Am J Hum Genet Date: 2009-03-26 Impact factor: 11.025
Authors: Ahmed M Salem; Samira Ismail; Waheba A Zarouk; Olwya Abdul Baky; Ahmed A Sayed; Sawsan Abd El-Hamid; Sohair Salem Journal: ScientificWorldJournal Date: 2013-12-23
Authors: Stephan Klebe; Jean-Louis Golmard; Michael A Nalls; Mohamad Saad; Andrew B Singleton; Jose M Bras; John Hardy; Javier Simon-Sanchez; Peter Heutink; Gregor Kuhlenbäumer; Rim Charfi; Christine Klein; Johann Hagenah; Thomas Gasser; Isabel Wurster; Suzanne Lesage; Delia Lorenz; Günther Deuschl; Franck Durif; Pierre Pollak; Philippe Damier; François Tison; Alexandra Durr; Philippe Amouyel; Jean-Charles Lambert; Christophe Tzourio; Cécilia Maubaret; Fanny Charbonnier-Beaupel; Khadija Tahiri; Marie Vidailhet; Maria Martinez; Alexis Brice; Jean-Christophe Corvol Journal: J Neurol Neurosurg Psychiatry Date: 2013-02-13 Impact factor: 10.154