Impact of COMT H108L, MAOB int 13 A>G and DRD2 haplotype on the susceptibility to Parkinson’s Disease in South Indian subjects.

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dc.contributor.authorKumudini, Nadella
dc.contributor.authorUma, Addepally
dc.contributor.authorDevi, Yalavarthy Prameela
dc.contributor.authorNaushad, Shaik Mohammad
dc.contributor.authorMridula, Rukmini
dc.contributor.authorBorgohain, Rupam
dc.contributor.authorKutala, Vijay Kumar
dc.date.accessioned2014-02-04T09:11:50Z
dc.date.available2014-02-04T09:11:50Z
dc.date.issued2013-10
dc.description.abstractIn view of documented evidence demonstrating the association of dopaminergic metabolism and neurotransmission with Parkinson’s disease (PD), a case-control study was conducted to investigate the impact of particular polymorphisms in the catechol O-methyl transferase (COMT) H108L, monoamine oxidase B (MAOB) int 13 A>G, dopamine transporter 1 (DAT1) A1215G, dopamine receptor D2 (DRD2) Taq1A, DRD2 Taq1B and DRD2 Taq1D genes on the susceptibility to PD. PCR-RFLP method was used for the genetic analysis. The COMT H108L polymorphism increased PD risk by 1.4-fold (95%CI: 1.02-1.98), whereas reduced risk was observed with MAOB int 13 A>G polymorphism (OR: 0.77, 95%CI: 0.51-0.99). Multifactor dimensionality reduction analysis showed gene-gene interactions between these two loci that resulted in loss of the protective role of MAOB G-allele in the presence of COMT L-allele. DAT1A1215G polymorphism in the exon 9 was not associated with PD. Individually, DRD2 polymorphisms showed null association. However, all-variant haplotype of DRD2 locus i.e. T-G-T haplotype showed 29.8-fold risk for PD compared to all-wild haplotype i.e., C-A-C haplotype (95%CI: 6.85-130.4). To conclude, genetic variants of COMT, MAOB and DRD2 loci modulate susceptibility to PD in South Indian subjects.en_US
dc.identifier.citationKumudini Nadella, Uma Addepally, Devi Yalavarthy Prameela, Naushad Shaik Mohammad, Mridula Rukmini, Borgohain Rupam, Kutala Vijay Kumar. Impact of COMT H108L, MAOB int 13 A>G and DRD2 haplotype on the susceptibility to Parkinson’s Disease in South Indian subjects. Indian Journal of Biochemistry & Biophysics. 2013 Oct; 50(5): 436-441.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/150253
dc.language.isoenen_US
dc.source.urihttps://nopr.niscair.res.in/handle/123456789/22644en_US
dc.subjectParkinson’s diseaseen_US
dc.subjectDopamineen_US
dc.subjectCatechol O-methyl transferaseen_US
dc.subjectMonoamine oxiadaseen_US
dc.subjectDopamine receptorsen_US
dc.subjectPolymorphismen_US
dc.subject.meshCatechol O-Methyltransferase --genetics
dc.subject.meshFemale
dc.subject.meshGenetic Predisposition to Disease --genetics
dc.subject.meshHaplotypes
dc.subject.meshHumans
dc.subject.meshIndia
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.subject.meshMonoamine Oxidase --genetics
dc.subject.meshParkinson Disease --enzymology
dc.subject.meshParkinson Disease --genetics
dc.subject.meshPolymorphism, Single Nucleotide
dc.subject.meshReceptors, Dopamine D2 --genetics
dc.titleImpact of COMT H108L, MAOB int 13 A>G and DRD2 haplotype on the susceptibility to Parkinson’s Disease in South Indian subjects.en_US
dc.typeArticleen_US
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