Dataset Information

Roles of functional catechol-O-methyltransferase genotypes in Chinese patients with Parkinson's disease.

ABSTRACT:

Background

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.

Methods

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.

Results

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.

Conclusions

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.

SUBMITTER: Xiao Q

PROVIDER: S-EPMC5405521 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Publications

Roles of functional catechol-O-methyltransferase genotypes in Chinese patients with Parkinson's disease.

Xiao Qin Q Qian Yiwei Y Liu Jiujiang J Xu Shaoqing S Yang Xiaodong X

Translational neurodegeneration 20170426

<h4>Background</h4>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.<h4>Methods</h4>O ...[more]

PMID: 28451382

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Project description:Functional movement is a valuable indicator of physical performance, injury risk, and/or musculoskeletal impairment following injury. However, genetic variation and gene-environment interactions that may affect functional movement are largely unexplored. We recently reported a linkage between trauma exposure and functional movement in male tactical athletes. Here, we examined the effect of a common genetic variant, rs737865, within the catechol-O-methyltransferase gene on functional movement in specialized military personnel (N = 134). We also explored whether rs737865 modulated the influence of trauma exposure. Genotyping was determined from saliva, trauma exposure was self-reported using the Brief Trauma Questionnaire, and functional movement was evaluated using the Functional Movement Screen™. The effect of rs737865 on functional movement was evaluated using general linear models, while associations between trauma and functional movement were determined with regression models. An alpha level of 0.05 was set as the threshold for significance. In the standard three-genotype model (GG, AG, AA), rs737865 predicted functional movement (p = 0.03, η2p = 0.05). Specifically, GG (n = 9) exhibited the highest functional movement scores (mean [M] ± standard deviation [SD] = 17.2±1.9), followed by AG (n = 45; M±SD = 15.9±2.5), and then AA (n = 80; M±SD = 15.2±2.3). The connection between rs737865 and functional movement was preserved in both the dominant G model (G vs AA; p = 0.03, η2p = 0.04) and the dominant A model (A vs GG; p = 0.03, η2p = 0.03). The rs737865 variant also modulated the influence of trauma on functional movement. To our knowledge, this is the first discovery linking rs737865 to functional movement, which may lead to greater precision in musculoskeletal injury risk stratification and increased efficacy of strength and conditioning programs in tactical athletes. In resource constrained settings, genomic modeling may help to direct limited assets to at-risk subgroups (for screening purposes). It may also help to individualize, and enhance, strength and conditioning programs based on the genomic signature of a person's training response.

Dataset Information

Roles of functional catechol-O-methyltransferase genotypes in Chinese patients with Parkinson's disease.

Background

Methods

Results

Conclusions

Publications

Roles of functional catechol-O-methyltransferase genotypes in Chinese patients with Parkinson's disease.

Similar Datasets

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