Association of Polymorphism of the Enzyme Catechol-O-Methyltransferase with Fibromialgic Syndrome and its Clinical Repercussions

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Abstract

Objective: Fibromyalgia syndrome (FMS) is a clinical condition that mostly affects women, with chronic diffuse pain, physical disability, mood swings, anxiety, fatigue and insomnia. There are genetic contributions to its pathophysiology. Some single nucleotide polymorphisms (SNPs) can change the function of proteins that participate in pain modulation. Catechol-O-methyltransferase (COMT) is an enzyme responsible for the inactivation of catecholamines in the central nervous system, participating in descending nociceptive inhibitory pathways. This study verified the association of SNPs rs4680, rs6269, rs4633 and rs4818 of the COMT gene with clinical aspects in patients with FMS in Brazil. Methods: Forty-seven volunteers whith FMS were selected, in which the Fibromyalgia Impact Questionnaire, the Beck’s Depression and Anxiety Inventories, the Insomnia Severity Index and the Mini-Mental State Examination were applied. The DNA was extracted by salting out and the SPNs were evaluated by real time reverse transcription polymerase chain (RT-PCR). The association between clinic and SPNs was tested by the Fisher’s exact test. A 95% CI and p value < 0.05 were adopted. Results: The results showed that there was no association between such SNPs and the participants’ clinic regarding the tests used. Conclusions: This study showed that, although the disease has an important impact on patients’ daily lives, increasing the chances of depression, anxiety, insomnia and cognitive losses, it is not associated with the SNPs researched. Further investigations, with larger samples, are needed to assess these and other associations between genetics factors and FMS.
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酶儿茶酚o -甲基转移酶多态性与纤维肌痛综合征的关系及其临床影响
目的:纤维肌痛综合征(FMS)是一种主要影响女性的临床病症,表现为慢性弥漫性疼痛、身体残疾、情绪波动、焦虑、疲劳和失眠。它的病理生理有遗传因素。一些单核苷酸多态性(SNPs)可以改变参与疼痛调节的蛋白质的功能。儿茶酚- o -甲基转移酶(COMT)是一种负责中枢神经系统儿茶酚胺失活的酶,参与下行伤害抑制途径。本研究证实了COMT基因snp rs4680、rs6269、rs4633和rs4818与巴西FMS患者临床方面的关联。方法:选取47名FMS患者,采用纤维肌痛影响问卷、贝克抑郁焦虑量表、失眠严重程度指数和简易精神状态测验。用盐析法提取DNA,用实时逆转录聚合酶链(RT-PCR)评价spn。通过Fisher精确检验检验了临床与spn之间的关系。采用95% CI, p值< 0.05。结果:结果表明,这些snp和参与者的诊所之间没有关联,关于使用的测试。结论:本研究表明,尽管该疾病对患者的日常生活有重要影响,增加了抑郁、焦虑、失眠和认知丧失的机会,但与所研究的snp无关。需要更大样本的进一步调查来评估遗传因素与FMS之间的这些和其他关联。
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