The online version of this article (doi:10.1186/s40035-017-0081-9) contains supplementary material, which is available to authorized users.
Recent studies have found that the functional catechol-O-methyltransferase (COMT) gene may be associated with the susceptibility to and pharmacotherapy of Parkinson’s disease (PD). In this case–control study, we investigated the most common functional COMT gene haplotypes that had been shown to influence COMT enzymatic activity and the association of the single and combined COMT haplotypes with clinical symptoms and pharmacotherapy in Chinese patients with PD.
One hundred forty-three patients with idiopathic PD and 157 healthy individuals were enrolled in this study. Four single nucleotide polymorphisms (SNPs) in the COMT gene (formed by SNPs) were genotyped in each participant: rs6269 A > G; rs4633 C > T; rs4818 C > G; and rs4680 G > A.
The frequencies of rs4633 T carriers, rs4680 A carriers and the two linked rs4633-rs4680 T/A carriers were significantly higher in the early onset PD group than in the healthy controls (all P < 0.05). Homozygosity for rs4633 (TT), rs4680 (AA) and of the two linked rs4633-rs4680 (TT/AA) was significantly more frequent in patients who exhibited the “wearing-off” phenomenon, longer disease duration, higher levodopa equivalent doses (LED) and higher Unified Parkinson’s Disease Rating Scale (UPDRS) scores (P < 0.05). No significant differences were observed in the clinical features of patients who carried individual rs6269 and rs4818, the two linked rs6269-rs4818 and the four combined COMT SNPs.
The results showed a possible association of combined functional COMT SNPs with PD risk, disease duration, the “wearing-off” phenomenon, daily LEDs and higher UPDRS scores, which may be useful in instituting individualized therapy for patients with PD.
Additional file 1: Table S1. Characteristics of the genotyped COMT SNPs. Table S2. Demographic and clinical features of functional COMT haplotype. (DOCX 19 kb)40035_2017_81_MOESM1_ESM.docx
Bialecka M, Kurzawski M, Klodowska-Duda G, Opala G, Tan EK, Drozdzik M. The association of functional catechol-O-methyltransferase haplotypes with risk of Parkinson’s disease, levodopa treatment response, and complications. Pharmacogenet Genom. 2008;18:815–21. CrossRef
Torkaman-Boutorabi A, Shahidi GA, Choopani S, Zarrindast MR. Original article association of monoamine oxidase B and catechol-O-methyltransferase polymorphisms with sporadic Parkinson’s disease in an Iranian population. Folia Neuropathol. 2012;4:382–9. CrossRef
Jimenez-Jimenez FJ, Alonso-Navarro H, Garcia-Martin E, Agundez JA. COMT gene and risk for Parkinson’s disease: a systematic review and meta-analysis. Pharmacogenet Genom. 2014;24:331–9. CrossRef
Corvol JC, Bonnet C, Charbonnier-Beaupel F, Bonnet AM, Fievet MH, Bellanger A, Roze E, Meliksetyan G, Ben Djebara M, Hartmann A, Lacomblez L, Vrignaud C, Zahr N, Agid Y, Costentin J, Hulot JS, Vidailhet M. The COMT Val158Met polymorphism affects the response to entacapone in Parkinson’s disease: a randomized crossover clinical trial. Ann Neurol. 2011;69:111–8. CrossRefPubMed
Torkaman-Boutorabi A, Shahidi GA, Choopani S, Rezvani M, Pourkosary K, Golkar M, Zarrindast MR. The catechol-O-methyltransferase and monoamine oxidase B polymorphisms and levodopa therapy in the Iranian patients with sporadic Parkinson’s disease. Acta Neurobiol Exp (Wars). 2012;72:272–82.
Hao H, Shao M, An J, Chen C, Feng X, Xie S, Gu Z, Chan P, Chinese Parkinson Study Group. Association of Catechol-O-Methyltransferase and monoamine oxidase B gene polymorphisms with motor complications in parkinson’s disease in a Chinese population. Parkinsonism Relat Disord. 2014;20:1041–5. CrossRefPubMed
Bialecka M, Kurzawski M, Roszmann A, Robowski P, Sitek EJ, Honczarenko K, Gorzkowska A, Budrewicz S, Mak M, Jarosz M, Golab-Janowska M, Koziorowska-Gawron E, Drozdzik M, Slawek J. Association of COMT, MTHFR, and SLC19A1(RFC-1) polymorphisms with homocysteine blood levels and cognitive impairment in Parkinson’s disease. Pharmacogenet Genom. 2012;22:716–24. CrossRef
Daniel SE, Lees AJ. Parkinson’s disease society brain bank, London: overview and research. J Neural Transm Suppl. 1993;39:165–72. PubMed
Fereshtehnejad SM, Ghazi L, Sadeghi M, Khaefpanah D, Shahidi GA, Delbari A, Lokk J. Prevalence of malnutrition in patients with Parkinson’s disease: a comparative study with healthy controls using Mini Nutritional Assessment (MNA) questionnaire. J Parkinsons Dis. 2014;4:473–81. PubMed
Punia S, Das M, Behari M, Mishra BK, Sahani AK, Govindappa ST, Jayaram S, Muthane UB, Thelma BK, Juyal RC. Role of polymorphisms in dopamine synthesis and metabolism genes and association of DBH haplotypes with Parkinson’s disease among North Indians. Pharmacogenet Genom. 2010;20:435–41.
Yin B, Chen Y, Zhang L. Association between Catechol-O-Methyltransferase (COMT) gene polymorphisms, Parkinson’s disease, and levodopa efficacy. Mol Diagn Ther. 2013;18:253–60. CrossRef
- Roles of functional catechol-O-methyltransferase genotypes in Chinese patients with Parkinson’s disease
- BioMed Central
Neu in den Fachgebieten Neurologie und Psychiatrie
Meistgelesene Bücher in der Neurologie & Psychiatrie