J M Leppilahti, J Knuutila, P Pesonen, V Vuollo, M Männikkö, M K Karjalainen, A L Suominen, K Sipilä
{"title":"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）。","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":"<p><strong>Background: </strong>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.</p><p><strong>Objective: </strong>The aim of this GWAS was to explore genetic factors associated with painful TMD in Finnish populations.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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<sup>-9</sup>; rs4244867, ALG10, p = 3 × 10<sup>-8</sup>; rs79841648, ADCYAP1, p = 4 × 10<sup>-9</sup>) and one locus in females (rs148476652, DNER, p = 4 × 10<sup>-9</sup>). 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.</p><p><strong>Conclusion: </strong>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.</p>","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":"{\"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\":\"<p><strong>Background: </strong>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.</p><p><strong>Objective: </strong>The aim of this GWAS was to explore genetic factors associated with painful TMD in Finnish populations.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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<sup>-9</sup>; rs4244867, ALG10, p = 3 × 10<sup>-8</sup>; rs79841648, ADCYAP1, p = 4 × 10<sup>-9</sup>) and one locus in females (rs148476652, DNER, p = 4 × 10<sup>-9</sup>). 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.</p><p><strong>Conclusion: </strong>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.</p>\",\"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}","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}
Genome-Wide Association Study of Temporomandibular Disorder-Related Pain in Finnish Populations.
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.
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.
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