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意大利南部颞下颌关节紊乱病患者儿茶酚氧位甲基转移酶(COMT)基因多态性作为危险因素。

Catechol-O-methyltransferase (COMT) gene polymorphisms as risk factor in temporomandibular disorders patients from Southern Italy.

机构信息

*Department of Oral and Maxillo-Facial Sciences, Section of Orthodontics and Clinical Gnathology †CEINGE Biotecnologie Avanzate S.C.a R.L., Department of Biochemistry and Medical Biotechnology, University of Naples "Federico II," Naples ‡Salvatore Maugeri Foundation, IRCCS, Benevento, Campania, Italy.

出版信息

Clin J Pain. 2014 Feb;30(2):129-33. doi: 10.1097/AJP.0b013e318287a358.

Abstract

OBJECTIVES

To evaluate the role of COMT gene variants as potential risk factors in a group of patients affected with chronic temporomandibular disorder (TMD) pain.

METHODS

We sequenced COMT gene in 182 Italian subjects (50 affected by TMD and 132 controls). The study population consisted of patients affected by myogenous and/or arthrogenous pain (RDC/TMD: Ia, Ib, IIIa, IIIb diagnostic categories).

RESULTS

We detected 40 single nucleotide polymorphisms (SNPs) variants (18 novel). Three SNPs, all located in the promoter regions, were more frequently present in cases than in controls (rs 4646310 P=0.018, rs165656 P=0.001, rs 165722 P=0.007). After the False Discovery Rate (FDR) correction rs165656 remained significantly associated with TMD (P=0.049). In addition, the rs 4646310 (AG vs GG, P=0.015) and rs 165656 (GG vs CC, P=0.001) were at binary logistic regression analysis independently associated with TMD, conferring a risk disease of 2.6 (CI= 1.2-5.6) and of 5.3 (CI= 2.0-13.7) respectively.

DISCUSSION

Our data extend the number of SNPs present in the promoter region that could play a regulatory role in COMT gene and suggest that the genetic polymorphisms rs 165656 and rs 4646310 exert a role in TMD susceptibility.

摘要

目的

评估 COMT 基因变异作为一组慢性颞下颌关节紊乱(TMD)疼痛患者潜在风险因素的作用。

方法

我们对 182 名意大利受试者(50 名 TMD 患者和 132 名对照)的 COMT 基因进行了测序。研究人群包括患有肌源性和/或关节源性疼痛的患者(RDC/TMD:Ia、Ib、IIIa、IIIb 诊断类别)。

结果

我们检测到 40 个单核苷酸多态性(SNP)变体(18 个新变体)。三个 SNP 均位于启动子区域,在病例中比在对照组中更频繁出现(rs4646310 P=0.018,rs165656 P=0.001,rs165722 P=0.007)。经过错误发现率(FDR)校正后,rs165656 仍与 TMD 显著相关(P=0.049)。此外,rs4646310(AG 与 GG,P=0.015)和 rs165656(GG 与 CC,P=0.001)在二元逻辑回归分析中独立与 TMD 相关,分别赋予疾病风险 2.6(CI=1.2-5.6)和 5.3(CI=2.0-13.7)。

讨论

我们的数据扩展了存在于 COMT 基因启动子区域的 SNP 数量,这些 SNP 可能在 COMT 基因中发挥调节作用,并表明遗传多态性 rs165656 和 rs4646310 在外显子在 TMD 易感性中发挥作用。

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