Genome-Wide Association Study of Temporomandibular Disorder-Related Pain in Finnish Populations.

IF 3.1 3区医学 Q1 DENTISTRY, ORAL SURGERY & MEDICINE Journal of oral rehabilitation Pub Date : 2024-10-31 DOI:10.1111/joor.13883

J M Leppilahti, J Knuutila, P Pesonen, V Vuollo, M Männikkö, M K Karjalainen, A L Suominen, K Sipilä

{"title":"Genome-Wide Association Study of Temporomandibular Disorder-Related Pain in Finnish Populations.","authors":"J M Leppilahti, J Knuutila, P Pesonen, V Vuollo, M Männikkö, M K Karjalainen, A L Suominen, K Sipilä","doi":"10.1111/joor.13883","DOIUrl":null,"url":null,"abstract":"Background: Temporomandibular disorders (TMD) are multifactorial musculoskeletal pain and dysfunctions in temporomandibular joints (TMJs) and masticatory muscles. Genetic factors play a role in TMD-related pain, but only a few genome-wide association studies (GWAS) have been conducted.Objective: The aim of this GWAS was to explore genetic factors associated with painful TMD in Finnish populations.Methods: Data from two epidemiological surveys, the Northern Finland Birth Cohort 1966 (NFBC1966) and the Health 2000 Survey in Finland, including altogether 468 cases and 6833 controls, were used. Case definition was based on pain on palpation of masticatory muscles and/or TMJs. GWASs of the whole data and stratified by sex were conducted from both cohorts using additive models, followed by meta-analysis of the two cohorts. Replications of the previously reported TMD risk loci (rs73460075, DMD; rs4794106, SGCA; rs73271865, SP4; rs60249166, RXP2; rs1531554, BAHCCI; rs5862730, OTUD4/SMAD1; rs10092633, SFRP1; rs34612513, SOX14/CLDN18; rs878962, TSPAN9) were also investigated.Results: Four genome-wide significant loci were found in sex-stratified analysis of NFBC1966, including associations at three loci in males (rs1023114, PRIM2, p = 5 × 10-9; rs4244867, ALG10, p = 3 × 10-8; rs79841648, ADCYAP1, p = 4 × 10-9) and one locus in females (rs148476652, DNER, p = 4 × 10-9). However, the results could not be replicated in the Health 2000 Survey or in the meta-analysis of these two cohorts. The previous TMD GWAS associations did not replicate in our data either.Conclusion: Several TMD pain-associated variants were found in sex-stratified analysis of NFBC1966, suggesting the role of neuroendocrine stress responses and central nervous system. These findings need to be confirmed in future studies.","PeriodicalId":16605,"journal":{"name":"Journal of oral rehabilitation","volume":" ","pages":""},"PeriodicalIF":3.1000,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of oral rehabilitation","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/joor.13883","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Temporomandibular disorders (TMD) are multifactorial musculoskeletal pain and dysfunctions in temporomandibular joints (TMJs) and masticatory muscles. Genetic factors play a role in TMD-related pain, but only a few genome-wide association studies (GWAS) have been conducted.

Objective: The aim of this GWAS was to explore genetic factors associated with painful TMD in Finnish populations.

Methods: Data from two epidemiological surveys, the Northern Finland Birth Cohort 1966 (NFBC1966) and the Health 2000 Survey in Finland, including altogether 468 cases and 6833 controls, were used. Case definition was based on pain on palpation of masticatory muscles and/or TMJs. GWASs of the whole data and stratified by sex were conducted from both cohorts using additive models, followed by meta-analysis of the two cohorts. Replications of the previously reported TMD risk loci (rs73460075, DMD; rs4794106, SGCA; rs73271865, SP4; rs60249166, RXP2; rs1531554, BAHCCI; rs5862730, OTUD4/SMAD1; rs10092633, SFRP1; rs34612513, SOX14/CLDN18; rs878962, TSPAN9) were also investigated.

Results: Four genome-wide significant loci were found in sex-stratified analysis of NFBC1966, including associations at three loci in males (rs1023114, PRIM2, p = 5 × 10^-9; rs4244867, ALG10, p = 3 × 10^-8; rs79841648, ADCYAP1, p = 4 × 10^-9) and one locus in females (rs148476652, DNER, p = 4 × 10^-9). However, the results could not be replicated in the Health 2000 Survey or in the meta-analysis of these two cohorts. The previous TMD GWAS associations did not replicate in our data either.

Conclusion: Several TMD pain-associated variants were found in sex-stratified analysis of NFBC1966, suggesting the role of neuroendocrine stress responses and central nervous system. These findings need to be confirmed in future studies.

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

芬兰人群中与颞下颌关节紊乱有关的疼痛的全基因组关联研究》（Genome-Wide Association Study of Temporomandibular Disorder-Related Pain in Finnish Populations）。

背景：颞下颌关节紊乱（TMD）是由多种因素引起的肌肉骨骼疼痛以及颞下颌关节（TMJ）和咀嚼肌的功能障碍。遗传因素在 TMD 相关疼痛中起着一定的作用，但目前仅开展了几项全基因组关联研究（GWAS）：这项全基因组关联研究旨在探索芬兰人群中与 TMD 疼痛相关的遗传因素：方法：研究人员使用了1966年北芬兰出生队列（NFBC1966）和2000年芬兰健康调查（Health 2000 Survey in Finland）这两项流行病学调查的数据，其中包括468例病例和6833例对照。病例定义以咀嚼肌和/或颞下颌关节触诊疼痛为依据。利用加法模型对两个队列的全部数据和按性别分层的数据进行了基因组学分析，然后对两个队列进行了荟萃分析。此外，还对之前报道的 TMD 风险位点（rs73460075，DMD；rs4794106，SGCA；rs73271865，SP4；rs60249166，RXP2；rs1531554，BAHCCI；rs5862730，OTUD4/SMAD1；rs10092633，SFRP1；rs34612513，SOX14/CLDN18；rs878962，TSPAN9）的重复位点进行了研究：结果：在对NFBC1966的性别分层分析中发现了四个全基因组显著位点，包括男性的三个位点（rs1023114，PRIM2，p = 5 × 10-9；rs4244867，ALG10，p = 3 × 10-8；rs79841648，ADCYAP1，p = 4 × 10-9）和女性的一个位点（rs148476652，DNER，p = 4 × 10-9）。然而，这些结果无法在 2000 年健康调查或这两个队列的荟萃分析中得到重复。我们的数据也没有重复之前的 TMD GWAS 关联：结论：在 NFBC1966 的性别分层分析中发现了几个与 TMD 疼痛相关的变异，这表明神经内分泌应激反应和中枢神经系统发挥了作用。这些发现需要在今后的研究中加以证实。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文去求助

来源期刊

Journal of oral rehabilitation 医学-牙科与口腔外科

CiteScore

5.60

自引率

10.30%

发文量

116

审稿时长

4-8 weeks

期刊介绍： Journal of Oral Rehabilitation aims to be the most prestigious journal of dental research within all aspects of oral rehabilitation and applied oral physiology. It covers all diagnostic and clinical management aspects necessary to re-establish a subjective and objective harmonious oral function. Oral rehabilitation may become necessary as a result of developmental or acquired disturbances in the orofacial region, orofacial traumas, or a variety of dental and oral diseases (primarily dental caries and periodontal diseases) and orofacial pain conditions. As such, oral rehabilitation in the twenty-first century is a matter of skilful diagnosis and minimal, appropriate intervention, the nature of which is intimately linked to a profound knowledge of oral physiology, oral biology, and dental and oral pathology. The scientific content of the journal therefore strives to reflect the best of evidence-based clinical dentistry. Modern clinical management should be based on solid scientific evidence gathered about diagnostic procedures and the properties and efficacy of the chosen intervention (e.g. material science, biological, toxicological, pharmacological or psychological aspects). The content of the journal also reflects documentation of the possible side-effects of rehabilitation, and includes prognostic perspectives of the treatment modalities chosen.