Association of СОМТ gene polymorphisms with Parkinson’s disease

Иванова, Светлана; Алифирова, В. М.; Жукова, И. А.; Tiguntsev, V. V.; Pozhidaev, Ivan V; Osmanova, D.; Fedorenko, Olga Yu; Фрейдин, Максим Борисович; Mironova, Yu. S.; Жукова, Н. Г.; Bokhan, N.; Loonen, Anton J. M.

doi:10.20538/1682-0363-2017-3-70-78

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“…38,39 We had observed previously a significant association with PD for the c.615+739G>A (rs165774), but not Val158Met (rs4680), polymorphism and PD of the same patient population vs. 127 healthy controls. 40 De Lau et al described the existence of a prospectively assessed correlation between the A-allele of the COMT Val158Met polymorphism and an increased risk of developing dyskinesias in 219 patients with PD. 41 A comprehensive meta-analysis in which a total of 363 datasets were included, consisting 56,998 cases and 74,668 healthy controls from case control studies, as well as 2,547 trios from family based studies, showed a definite relationship between several psychiatric disorders, including, for example, attention-deficiency hyperactivity disorder (ADHD) and panic disorder for Caucasian samples.…”

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Polymorphisms of Catechol-O-Methyl Transferase (COMT) Gene in Vulnerability to Levodopa-Induced Dyskinesia

et al. 2018

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-Purpose. Parkinson's disease (PD), a common neurodegenerative disorder, is usually treated with Levodopa (L-DOPA). The use of this drug, however, is severely limited by the development of side effects of the motor system: Levodopa-induced dyskinesia (LID). The aim of this study is to investigate the association between seven COMT gene single-nucleotide polymorphisms (SNPs) and the development of LID in patients with PD. Methods. 232 Caucasian patients with PD were investigated. 212 patients with PD received Levodopa therapy. Dyskinesia was assessed with the use of the Abnormal Involuntary Movement Scale (AIMS). Genotyping was carried out on seven SNPs of the COMT gene (rs4680, rs6269, rs4633, rs4818, rs769224, rs165774, rs174696) using a real-time PCR method, and blind to the clinical status of the subjects. Results. We found association between four SNPs, rs165774, rs4818, rs4633, rs4680, and LID. When the duration of disease was added as a covariate in regression analysis, however, the results did not reach statistical significance. Only the additive model for rs165774 was found to be close to be statistical significance ], permutation p = 0.057). Conclusions. The results failed to clearly support a contribution of the studied polymorphisms; this may be related to a dominant relationship with the disease duration confounding the effect on the prevalence of LID.

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