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探究南非不同颞下颌关节紊乱症诊断患者中儿茶酚-O-甲基转移酶基因活性与疼痛感知之间的关联。

Investigating the Association between Catechol-O-Methyltransferase Gene Activity and Pain Perception in South African Patients with Different Temporomandibular Disorders Diagnoses.

作者信息

Meyer Mark Keith, Ismail Enas, Chetty Manogari

机构信息

Department of Craniofacial Biology, Pathology & Radiology, Faculty of Dentistry, University of the Western Cape, Tygerberg Hospital, Cape Town 7505, South Africa.

Physics Department, Faculty of Science (Girl's Branch), Al Azhar University, Nasr City, Cairo 11884, Egypt.

出版信息

Biomedicines. 2024 Oct 14;12(10):2331. doi: 10.3390/biomedicines12102331.

Abstract

Temporomandibular disorders (TMD) affect a significant portion of the population, with profound psychological, behavioral, and social repercussions. Recent investigations have explored the genetic basis underlying pain perception in individuals with TMD, aiming to elucidate the role of specific genetic factors in modulating the condition. Notably, genetic variations have been implicated in the pathogenesis of TMD, particularly genes involved in pain perception pathways. One of the primary candidates is the Catechol-O-Methyltransferase (COMT) gene, which plays a crucial role in the catecholaminergic system and has been associated with the regulation of nociceptive processes. This study seeks to investigate the correlation between COMT gene activity and pain perception among South African patients diagnosed with varying forms of TMD. In this study, a total of 196 participants were enrolled, comprising 97 patients diagnosed with TMD and 99 control participants. The control group was meticulously matched with the TMD group for age, gender, and ethnicity. Data collection involved clinical and radiological investigations, and saliva sampling. The English version of the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) Axis I was utilized to evaluate all TMD participants, focusing on standard diagnostic measures based on clinical signs and symptoms of TMD, which primarily describe common physical manifestations of the disorder. Genomic DNA was extracted from saliva samples, enabling the analysis of single-nucleotide polymorphisms (SNPs) in the COMT gene, specifically targeting polymorphisms rs165774, rs9332377, rs6269, rs4646310, rs165656, and rs4680. The current study demonstrated a pronounced gender disparity, with 80.41% of the participants being female and 19.59% male, suggesting that women in South Africa either exhibit a higher susceptibility to TMD or are more likely to seek treatment for the condition compared to men. The highest prevalence of TMD was observed in the white population (58.76%). Additionally, over 65% of TMD patients were diagnosed with at least two Axis I diagnoses, a figure that increased to 89% for those diagnosed with three Axis I diagnoses. The findings further indicated significant associations between several single-nucleotide polymorphisms (SNPs) in the Catechol-O-Methyltransferase (COMT) gene-specifically rs165656, rs9332377, rs4646310, rs6269, and rs165774-and both TMD and TMD-related pain. Myofascial pain with referral and myalgia showed a strong association with the COMT SNPs rs9332377 and rs4646310. Furthermore, COMT SNP rs4646310 was also associated with disability related to TMD. This study substantiates the hypothesis that pain is prevalent in a considerable proportion of patients affected by TMD. Furthermore, the findings reveal a significant association between COMT gene activity and pain perception in South African patients diagnosed with TMD.

摘要

颞下颌关节紊乱病(TMD)影响着相当一部分人群,具有深远的心理、行为和社会影响。最近的研究探讨了TMD患者疼痛感知的遗传基础,旨在阐明特定遗传因素在调节该病症中的作用。值得注意的是,基因变异与TMD的发病机制有关,特别是参与疼痛感知途径的基因。主要候选基因之一是儿茶酚-O-甲基转移酶(COMT)基因,它在儿茶酚胺能系统中起关键作用,并与伤害感受过程的调节有关。本研究旨在调查南非诊断为不同形式TMD的患者中COMT基因活性与疼痛感知之间的相关性。在本研究中,共招募了196名参与者,包括97名诊断为TMD的患者和99名对照参与者。对照组在年龄、性别和种族方面与TMD组进行了精心匹配。数据收集包括临床和放射学检查以及唾液采样。使用英文版的颞下颌关节紊乱病诊断标准(DC/TMD)轴I来评估所有TMD参与者,重点是基于TMD临床体征和症状的标准诊断措施,这些措施主要描述了该病症的常见身体表现。从唾液样本中提取基因组DNA,以便分析COMT基因中的单核苷酸多态性(SNP),特别针对多态性rs165774、rs9332377、rs6269、rs4646310、rs165656和rs4680。当前研究显示出明显的性别差异,80.41%的参与者为女性,19.59%为男性,这表明南非女性要么对TMD表现出更高的易感性,要么比男性更有可能因该病症寻求治疗。TMD在白人人群中的患病率最高(58.76%)。此外,超过65%的TMD患者被诊断出至少有两项轴I诊断,对于那些被诊断出有三项轴I诊断的患者,这一数字增加到89%。研究结果进一步表明,儿茶酚-O-甲基转移酶(COMT)基因中的几个单核苷酸多态性(SNP)——特别是rs165656、rs9332377、rs4646310、rs6269和rs165774——与TMD以及与TMD相关的疼痛之间存在显著关联。伴有牵涉痛的肌筋膜疼痛和肌痛与COMT SNP rs9332377和rs4646310有很强的关联。此外,COMT SNP rs4646310也与TMD相关的残疾有关。本研究证实了疼痛在相当一部分受TMD影响的患者中普遍存在的假设。此外,研究结果揭示了在南非诊断为TMD的患者中,COMT基因活性与疼痛感知之间存在显著关联。

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Temporomandibular disorders.颞下颌关节紊乱病
BJA Educ. 2021 Feb;21(2):44-50. doi: 10.1016/j.bjae.2020.11.001. Epub 2020 Dec 24.

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