{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T05:26:43Z","timestamp":1771306003296,"version":"3.50.1"},"reference-count":54,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,9,14]],"date-time":"2021-09-14T00:00:00Z","timestamp":1631577600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Numerous reports describe the association between the single-nucleotide polymorphism (SNP) rs12722 and rs13946 in the COL5A1 gene and injuries, such as Achilles tendon pathology, anterior cruciate ligament (ACL) injuries, and tennis elbow. Hence, there were no studies investigating COL5A1 and temporomandibular joint (TMJ) pathology. The aim of this study is to evaluate the relationship between COL5A1 rs12722 and rs13946 SNPs and TMJ articular disc displacement without reduction (ADDwoR). In this case-control study, the study group consisted of 124 Caucasian patients of both sexes. Each patient had a history of ADDwoR no more than 3 months prior. The control group comprised 126 patients with no signs of TMD according to DC\/TMD. Genotyping of the selected SNPs was performed by real-time PCR using TaqMan probes. The significance of the differences in the distribution of genotypes was analyzed using Pearson\u2019s chi-square test. Logistic regression modeling was performed to analyze the influence of the 164 investigated SNPs on ADDwoR. The COL5A1 marker rs12722 turned out to be statistically significant (p-value = 0.0119), implying that there is a difference in the frequencies of TMJ ADDwoR. The distribution of rs12722 SNPs in the study group TT(66), CC(27), CT(31) vs. control group TT(45), CC(26), CT(51) indicates that patients with CT had an almost 2.4 times higher likelihood of ADDwoR (OR = 2.41) than those with reference TT (OR = 1), while rs13946 genotypes were shown to be insignificant, with a p-value of 0.1713. The COL5A1 rs12722 polymorphism is a risk factor for ADDwoR in the Polish Caucasian population.<\/jats:p>","DOI":"10.3390\/cells10092423","type":"journal-article","created":{"date-parts":[[2021,9,14]],"date-time":"2021-09-14T23:34:11Z","timestamp":1631662451000},"page":"2423","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["COL5A1 RS12722 Is Associated with Temporomandibular Joint Anterior Disc Displacement without Reduction in Polish Caucasians"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0652-664X","authenticated-orcid":false,"given":"Bartosz","family":"Dalewski","sequence":"first","affiliation":[{"name":"Department of Dental Prosthetics, Pomeranian Medical University, 70-111 Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Bia\u0142kowska","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology, Pomeranian Medical University, 70-111 Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9365-7882","authenticated-orcid":false,"given":"\u0141ukasz","family":"Pa\u0142ka","sequence":"additional","affiliation":[{"name":"Private Dental Practice, 68-200 Zary, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5650-0501","authenticated-orcid":false,"given":"Anna","family":"Jakubowska","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology, Pomeranian Medical University, 70-111 Szczecin, Poland"},{"name":"Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, 70-111 Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawe\u0142","family":"Kiczmer","sequence":"additional","affiliation":[{"name":"Department and Chair of Pathomorphology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, 40-055 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Sobolewska","sequence":"additional","affiliation":[{"name":"Department of Dental Prosthetics, Pomeranian Medical University, 70-111 Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,9,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Kiga, N. (2012). Histochemistry for studying structure and function of the articular disc of the human temporomandibular joint. Eur. J. Histochem., 56.","DOI":"10.4081\/ejh.2012.e11"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1002\/j.0022-0337.2008.72.8.tb04569.x","article-title":"TMJ disorders: Future innovations in diagnostics and therapeutics","volume":"72","author":"Wadhwa","year":"2008","journal-title":"J. Dent. Educ."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1159\/000147286","article-title":"A comparison of the immunohistochemical localization of Type I and Type II collagens in craniofacial cartilages of the rat","volume":"144","author":"Mizoguchi","year":"1992","journal-title":"Cells Tissues Organs"},{"key":"ref_4","unstructured":"Karsdal, M.A. (2019). Biochemistry of Collagens, Laminins and Elastin: Structure, Function and Biomarkers, Elsevier."},{"key":"ref_5","unstructured":"Okeson, J.P. (2019). Management of Temporomandibular Disorders and Occlusion, Elsevier. [8th ed.]."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"He, D., Yang, X., Wang, F., Yang, C., and Dong, M. (2016). Acute trauma induced disc displacement without reduction and its sequelae. Sci. Rep., 6.","DOI":"10.1038\/srep32684"},{"key":"ref_7","first-page":"1","article-title":"Psychosocial aspects of bruxism: The most paramount factor influencing teeth grinding","volume":"2014","author":"Wieckiewicz","year":"2014","journal-title":"BioMed Res. Int."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1111\/joor.12011","article-title":"Bruxism defined and graded: An international consensus","volume":"40","author":"Lobbezoo","year":"2012","journal-title":"J. Oral Rehabil."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Dalewski, B., Kami\u0144ska, A., Szyd\u0142owski, M., Kozak, M., and Sobolewska, E. (2019). Comparison of early effectiveness of three different intervention methods in patients with chronic orofacial pain: A randomized, controlled clinical trial. Pain Res. Manag., 2019.","DOI":"10.1155\/2019\/7954291"},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Kami\u0144ska, A., Dalewski, B., and Sobolewska, E. (2020). The usefulness of the pressure algometer in the diagnosis and treatment of orofacial pain patients: A systematic review. Occup. Ther. Int., 2020.","DOI":"10.1155\/2020\/5168457"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/0278-2391(83)90213-6","article-title":"Sagittal anatomy of the human temporomandibular joint spaces: Normal and abnormal findings","volume":"41","author":"Dolwick","year":"1983","journal-title":"J. Oral Maxillofac. Surg."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1179\/2042618613Y.0000000060","article-title":"Narrative review temporomandibular disorders. Part 1: Anatomy and examination\/diagnosis","volume":"22","author":"Shaffer","year":"2014","journal-title":"J. Man. Manip. Ther."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"567","DOI":"10.4329\/wjr.v6.i8.567","article-title":"Imaging of the temporomandibular joint: An update","volume":"6","author":"Bag","year":"2014","journal-title":"World J. Radiol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/j.1600-0838.2005.00439.x","article-title":"The COL5A1 gene and Achilles tendon pathology","volume":"16","author":"Mokone","year":"2006","journal-title":"Scand. J. Med. Sci. Sports"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1136\/bjsm.2008.048793","article-title":"Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations","volume":"43","author":"September","year":"2008","journal-title":"Br. J. Sports Med."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"2234","DOI":"10.1177\/0363546509338266","article-title":"The COL5A1 gene is associated with increased risk of anterior cruciate ligament ruptures in female participants","volume":"37","author":"Posthumus","year":"2009","journal-title":"Am. J. Sports Med."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1080\/17461391.2014.936324","article-title":"Interactions between collagen gene variants and risk of anterior cruciate ligament rupture","volume":"15","author":"Knight","year":"2015","journal-title":"Eur. J. Sport Sci."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1784","DOI":"10.1177\/0363546515578661","article-title":"The BstUI and DpnII variants of the COL5A1 gene are associated with tennis elbow","volume":"43","author":"Altinisik","year":"2015","journal-title":"Am. J. Sports Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"29","DOI":"10.5114\/ada.2018.79440","article-title":"New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome\u2014Analysis of nine cases","volume":"36","author":"Heise","year":"2019","journal-title":"Adv. Dermatol. Allergol."},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Lin, Z., Zeng, J., and Wang, X. (2019). Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1. Biosci. Rep., 39.","DOI":"10.1042\/BSR20181409"},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Schnabl, D., Rottler, A.K., Schupp, W., Boisser\u00e9e, W., and Grunert, I. (2018). CBCT and MRT imaging in patients clinically diagnosed with temporomandibular joint arthralgia. Heliyon, 4.","DOI":"10.1016\/j.heliyon.2018.e00641"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1007\/s40279-017-0678-2","article-title":"Genetic Variants and Anterior Cruciate Ligament Rupture: A Systematic Review","volume":"47","author":"Kaynak","year":"2017","journal-title":"Sports Med."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"NCI-NHGRI Working Group on Replication in Association Studies, Chanock, S.J., Manolio, T., Boehnke, M., Boerwinkle, E., Hunter, D., Gilles, T., Joel, N., Abecasis Gon\u00e7alo, R., and Altshuler, D. (2007). Replicating genotype-phenotype associations. Nature, 447, 655\u2013660.","DOI":"10.1038\/447655a"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/978-1-61779-842-9_14","article-title":"Analytical methods for disease association studies with immunogenetic data","volume":"882","author":"Hollenbach","year":"2012","journal-title":"Methods Mol. Biol"},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Dalewski, B., Kami\u0144ska, A., Bia\u0142kowska, K., Jakubowska, A., and Sobolewska, E. (2020). Association of Estrogen Receptor 1 and Tumor Necrosis Factor \u03b1 Polymorphisms with Temporomandibular Joint Anterior Disc Displacement without Reduction. Dis. Markers, 2020.","DOI":"10.1155\/2020\/6351817"},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Pabalan, N., Tharabenjasin, P., Phababpha, S., and Jarjanazi, H. (2018). Association of COL5A1 gene polymorphisms and risk of tendon-ligament injuries among Caucasians: A meta-analysis. Sports Med. Open, 4.","DOI":"10.1186\/s40798-018-0161-0"},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Mohmara, Y.A., Cook, J., Ben\u00edtez-Mart\u00ednez, J.C., McPeek, E.R., Aguilar, A.A., Olivas, E.S., and Hernandez-Sanchez, S. (2020). Influence of genetic factors in elbow tendon pathology: A case-control study. Sci. Rep., 10.","DOI":"10.1038\/s41598-020-63030-7"},{"key":"ref_28","first-page":"1849","article-title":"Association of COL1A1, COL5A1 and COL12A1 genes with anterior cruciate ligament injury","volume":"21","author":"Chen","year":"2017","journal-title":"Chin. J. Tissue Eng. Res."},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Dalewski, B., Kaczmarek, K., Jakubowska, A., Szczuchniak, K., Pa\u0142ka, \u0141., and Sobolewska, E. (2021). COL12A1 Single Nucleotide Polymorphisms rs240736 and rs970547 Are Not Associated with Temporomandibular Joint Disc Displacement without Reduction. Genes, 12.","DOI":"10.3390\/genes12050690"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1515\/hukin-2015-0011","article-title":"The variants within the COL5A1 gene are associated with reduced risk of anterior cruciate ligament injury in skiers","volume":"45","author":"Ficek","year":"2015","journal-title":"J. Hum. Kinet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1515\/hukin-2017-0177","article-title":"Interactions Between COL5A1 Gene and Risk of the Anterior Cruciate Ligament Rupture","volume":"62","author":"Rahim","year":"2018","journal-title":"J. Hum. Kinet."},{"key":"ref_32","first-page":"1393","article-title":"Human COL5A1 rs12722 gene polymorphism and tendon properties in vivo in an asymptomatic population","volume":"114","author":"Foster","year":"2014","journal-title":"Graefe\u2019s Arch. Clin. Exp. Ophthalmol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1","DOI":"10.5935\/MedicalExpress.2015.04.02","article-title":"Correlation between gender, temporomandibular joint disc position and clinical findings in patients with temporomandibular disorder","volume":"2","author":"Witzel","year":"2015","journal-title":"Med. Express"},{"key":"ref_34","first-page":"454","article-title":"Prevalence of TMJ disc displacement in a pre-orthodontic adolescent sample","volume":"70","author":"Nebbe","year":"2000","journal-title":"Angle Orthod."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"539","DOI":"10.7150\/ijms.4474","article-title":"Gender difference in prevalence of signs and symptoms of temporoman-dibular joint disorders: A retrospective study on 243 consecutive patients","volume":"9","author":"Bagis","year":"2012","journal-title":"Int. J. Med. Sci."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1259\/dmfr\/1286942","article-title":"Magnetic resonance characteristics of temporomandibular joint disc displacement in elderly patients","volume":"41","author":"Ogura","year":"2012","journal-title":"Dentomaxillofacial Radiol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1590\/1678-7757-2016-0471","article-title":"Metrical analysis of disc-condyle relation with different splint treatment positions in patients with TMJ disc displacement","volume":"25","author":"Liu","year":"2017","journal-title":"J. Appl. Oral Sci."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1111\/jopr.12414","article-title":"The prevalence of TMD in Polish young adults","volume":"26","author":"Loster","year":"2017","journal-title":"J. Prosthodont."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.jbmt.2012.10.006","article-title":"Effectiveness of manual therapy and home physical therapy in patients with temporomandibular disorders: A randomized controlled trial","volume":"17","author":"Tuncer","year":"2013","journal-title":"J. Bodyw. Mov. Ther."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1111\/joor.12661","article-title":"Gender differences in temporomandibular disorders in adult populational studies: A systematic review and meta-analysis","volume":"45","author":"Bueno","year":"2018","journal-title":"J. Oral Rehabil."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Akhter, R. (2019). Epidemiology of temporomandibular disorder in the general population: A systematic review. Adv. Dent. Oral Health, 10.","DOI":"10.19080\/ADOH.2019.10.555787"},{"key":"ref_42","first-page":"123","article-title":"Temporomandibular disorders and related factors in a group of Iranian adolescents: A cross-sectional survey","volume":"5","author":"Ebrahimi","year":"2011","journal-title":"J. Dent. Res. Dent. Clin. Dent. Prospect."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1046\/j.1365-2842.2003.01010.x","article-title":"Prevalence study of signs and symptoms of temporomandibular disorders in university students","volume":"30","author":"Pedroni","year":"2003","journal-title":"J. Oral Rehabil."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1046\/j.1365-2842.2003.01249.x","article-title":"Signs of temporomandibular disorders in tinnitus patients and in a population-based group of volunteers: Results of the Study of Health in Pomerania","volume":"31","author":"Bernhardt","year":"2004","journal-title":"J. Oral Rehabil."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"127","DOI":"10.2334\/josnusd.56.127","article-title":"Association of temporomandibular disorder symptoms with anxiety and depression in Portuguese college students","volume":"56","author":"Minghelli","year":"2014","journal-title":"J. Oral Sci."},{"key":"ref_46","first-page":"146","article-title":"Prevalence of temporomandibular dysfunction and its association with malocclusion in children and adolescents: An epidemiologic study related to specified stages of dental development","volume":"72","author":"Thilander","year":"2002","journal-title":"Angle Orthod."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.pain.2003.06.001","article-title":"Changes in temporomandibular pain and other symptoms across the menstrual cycle","volume":"106","author":"LeResche","year":"2003","journal-title":"Pain"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/S0304-3959(96)03230-7","article-title":"Use of exogenous hormones and risk of temporomandibular disorder pain","volume":"69","author":"LeResche","year":"1997","journal-title":"Pain"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.jpain.2008.11.012","article-title":"Estrogen Receptor-\u03b1 Polymorphisms and Predisposition to TMJ Disorder","volume":"10","author":"Line","year":"2009","journal-title":"J. Pain"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1111\/j.1365-2842.2010.02074.x","article-title":"Pathophysiology of TMD pain\u2014Basic mechanisms and their implications for pharmacotherapy","volume":"37","author":"Cairns","year":"2010","journal-title":"J. Oral Rehabil."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1080\/00016350801978660","article-title":"A follow-up study of subjective symptoms of temporomandibular disorders in patients who received acupuncture and\/or interocclusal appliance therapy 18\u201320 years earlier","volume":"66","author":"List","year":"2008","journal-title":"Acta Odontol. Scand."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1111\/ahg.12013","article-title":"Polymorphisms within the COL5A1 3\u2032-UTR that alters mRNA structure and the MIR608 gene are associated with achilles tendinopathy","volume":"77","author":"Abrahams","year":"2013","journal-title":"Ann. Hum. Genet."},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Kim, S.K., Roos, T.R., Roos, A.K., Kleimeyer, J.P., Ahmed, M.A., Goodlin, G.T., Fredericson, M., Ioannidis, J.P.A., Avins, A.L., and Dragoo, J.L. (2017). Genome-wide association screens for Achilles tendon and ACL tears and tendinopathy. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0170422"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1080\/02640414.2016.1221524","article-title":"Polymorphisms within the COL5A1 gene and regulators of the extracellular matrix modify the risk of Achilles tendon pathology in a British case-control study","volume":"35","author":"Brown","year":"2017","journal-title":"J. Sports Sci."}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/10\/9\/2423\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T07:02:46Z","timestamp":1760166166000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/10\/9\/2423"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,14]]},"references-count":54,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021,9]]}},"alternative-id":["cells10092423"],"URL":"https:\/\/doi.org\/10.3390\/cells10092423","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,14]]}}}