{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T17:57:01Z","timestamp":1762624621101,"version":"build-2065373602"},"reference-count":46,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T00:00:00Z","timestamp":1620172800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008781","name":"Pomorski Uniwersytet Medyczny W Szczecinie","doi-asserted-by":"publisher","award":["MB-274-120\/14\/2014"],"award-info":[{"award-number":["MB-274-120\/14\/2014"]}],"id":[{"id":"10.13039\/501100008781","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Temporomandibular disorders (TMDs) may affect up to 25% of the population, with almost 70% of these TMD cases developing malpositioning of the disc over time in what is known as internal derangement (ID). Despite significant efforts, the molecular mechanism underlying disease progression is not yet very well known. In this study, the role of COL12A1 rs970547 and rs240736 polymorphisms as potential genetic factors regulating ID was investigated. The study included 124 Caucasian patients of both sexes after disc displacement without reduction (DDwoR) in either one or two temporomandibular joints (TMJs), either of which meet the criteria for this condition. All patients underwent clinical examination and 3D digital imaging. The COL12A1 rs970547 and rs240736 polymorphisms were evaluated. There were no statistically significant differences in the chi-square test between the study group and healthy controls. The examined COL12A1 rs240736 and rs970547 polymorphisms do not contribute to DDwoR in Polish Caucasians.<\/jats:p>","DOI":"10.3390\/genes12050690","type":"journal-article","created":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T11:06:01Z","timestamp":1620212761000},"page":"690","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["COL12A1 Single Nucleotide Polymorphisms rs240736 and rs970547 Are Not Associated with Temporomandibular Joint Disc Displacement without Reduction"],"prefix":"10.3390","volume":"12","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":"Kaczmarek","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology, Pomeranian Medical University, 71-252 Szczecin, 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, 71-252 Szczecin, Poland"},{"name":"Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, 71-252 Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9716-6685","authenticated-orcid":false,"given":"Kamila","family":"Szczuchniak","sequence":"additional","affiliation":[{"name":"Department of Dental Prosthetics, Outpatient Dental Clinic, 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 \u017bary, 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":[[2021,5,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e11","DOI":"10.4081\/ejh.2012.e11","article-title":"Histochemistry for studying structure and function of the articular disc of the human temporomandibular joint","volume":"56","author":"Kiga","year":"2012","journal-title":"Eur. J. Histochem."},{"key":"ref_2","first-page":"129","article-title":"Immunohistochemical expression of types I and III collagen antibodies in the temporomandibular joint disc of human foetuses","volume":"55","author":"Lodi","year":"2011","journal-title":"Eur. J. Histochem."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"3228","DOI":"10.1002\/jbm.b.34660","article-title":"Alteration of structural and mechanical properties of the temporomandibular joint disc following elastase digestion","volume":"108","author":"Fazaeli","year":"2020","journal-title":"J. Biomed. Mater. Res. Part B Appl. Biomater."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1002\/ca.980070507","article-title":"Special variations of the lateral ligament the human TMJ","volume":"7","author":"Nell","year":"1994","journal-title":"Clin. Anat."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"731","DOI":"10.17219\/acem\/35165","article-title":"The basic conservative treatment of temporomandibular joint anterior disc displacement without reduction\u2014Review","volume":"Volume 24","author":"Miernik","year":"2015","journal-title":"Advances in Clinical and Experimental Medicine"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1590\/1678-775720130056","article-title":"TMJ response to mandibular ad-vancement surgery: An overview of risk factors","volume":"Volume 22","author":"Cevidanes","year":"2014","journal-title":"Journal of Applied Oral Science"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"20170412","DOI":"10.1259\/dmfr.20170412","article-title":"Assessment of MRI findings and clinical symptoms in patients with temporomandibular joint disorders","volume":"47","author":"Matsubara","year":"2018","journal-title":"Dentomaxillofacial Radiol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/s11282-017-0278-8","article-title":"Diagnostic accuracy of magnetic resonance imaging and clinical signs of temporomandibular joint disorders: A 10-year research update review","volume":"33","author":"Orhan","year":"2017","journal-title":"Oral Radiol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"e117","DOI":"10.1016\/j.tripleo.2009.04.034","article-title":"Condyle-disk-fossa position and relationship to clinical signs and symptoms of temporomandibular disorders in women","volume":"108","author":"Marques","year":"2009","journal-title":"Oral Surg. Oral Med. Oral Pathol. Oral Radiol. Endodontol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/s00784-020-03347-9","article-title":"The importance of multisection sagittal and coronal magnetic resonance imaging evaluation in the assessment of temporomandibular joint disc position","volume":"25","author":"Szkutnik","year":"2021","journal-title":"Clin. Oral Investig."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.cden.2006.09.009","article-title":"Joint Intracapsular Disorders: Diagnostic and Nonsurgical Management Considerations","volume":"51","author":"Okeson","year":"2007","journal-title":"Dent. Clin. N. Am."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/j.oooo.2017.11.001","article-title":"Relationships between temporomandibular joint disk displacements and condylar volume","volume":"125","author":"Ahn","year":"2018","journal-title":"Oral Surg. Oral Med. Oral Pathol. Oral Radiol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1111\/joor.12720","article-title":"Temporomandibular joint magnetic resonance imaging findings in adolescents with anterior disk displacement compared to those with juvenile idiopathic arthritis","volume":"46","author":"Kellenberger","year":"2018","journal-title":"J. Oral Rehabil."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1080\/08869634.2017.1386753","article-title":"Adolescent internal condylar resorption (AICR) of the temporomandibular joint can be successfully treated by disc repositioning and orthognathic surgery, part 2: Treatment outcomes","volume":"37","author":"Galiano","year":"2017","journal-title":"CRANIO"},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Shaefer, J.R., Riley, C.J., Caruso, P., and Keith, D. (2012). Analysis of criteria for MRI diagnosis of TMJ disc displacement and arthralgia. Int. J. Dent., 1\u20138.","DOI":"10.1155\/2012\/283163"},{"key":"ref_16","unstructured":"National Center for Biotechnology Information (2020, December 23). dbSNP: Short Genetic Variations, Available online: http:\/\/www.ncbi.nlm.nih.gov\/projects\/SNP."},{"key":"ref_17","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":"Volume 47","author":"Kaynak","year":"2017","journal-title":"Sports Medicine"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2339","DOI":"10.1093\/hmg\/ddt627","article-title":"Recessive and dominant mutations in COL12A1 cause a novel EDS\/myopathy overlap syndrome in humans and mice","volume":"23","author":"Zou","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Derwich, M., Mitus-Kenig, M., and Pawlowska, E. (2020). Temporomandibular Joints\u2019 Morphology and Osteoarthritic Changes in Cone-Beam Computed Tomography Images in Patients with and without Reciprocal Clicking\u2014A Case Control Study. Int. J. Environ. Res. Public Health, 17.","DOI":"10.3390\/ijerph17103428"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"364","DOI":"10.17796\/1053-4625-44.5.12","article-title":"Polymorphisms in COL2A1 gene in Adolescents with Temporomandibular Disorders","volume":"44","author":"Rechia","year":"2020","journal-title":"J. Clin. Pediatr. Dent."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"D607","DOI":"10.1093\/nar\/gky1131","article-title":"STRING v11: Protein\u2013protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets","volume":"47","author":"Szklarczyk","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1016\/j.jpain.2019.04.003","article-title":"AAPT Diagnostic Criteria for Chronic Painful Temporomandibular Disorders","volume":"20","author":"Ohrbach","year":"2019","journal-title":"J. Pain"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2018\/7474608","article-title":"DC\/TMD Examiner Protocol: Longitudinal Evaluation on Interexaminer Reliability","volume":"2018","author":"Skeie","year":"2018","journal-title":"Pain Res. Manag."},{"key":"ref_24","first-page":"1","article-title":"The Efficiency of Anterior Repositioning Splints in the Management of Pain Related to Temporomandibular Joint Disc Displacement with Reduction","volume":"2018","author":"Pihut","year":"2018","journal-title":"Pain Res. Manag."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1111\/adj.12259","article-title":"Occlusal splint versus modified nociceptive trigeminal inhibition splint in bruxism therapy: A randomized, controlled trial using surface electromyography","volume":"60","author":"Dalewski","year":"2015","journal-title":"Aust. Dent. J."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2020\/6351817","article-title":"Association of Estrogen Receptor 1 and Tumor Necrosis Factor \u03b1 Polymorphisms with Temporomandibular Joint Anterior Disc Displacement without Reduction","volume":"2020","author":"Dalewski","year":"2020","journal-title":"Dis. Markers"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41598-020-72859-x","article-title":"Part 1: Profiling extra cellular matrix core proteome of human fetal nucleus pulposus in search for regenerative targets","volume":"10","author":"Rajasekaran","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/(SICI)1097-4687(199611)230:2<177::AID-JMOR5>3.0.CO;2-E","article-title":"Expression of type XII collagen by wound epithelial, mesenchymal, and ependymal cells during blastema formation in regenerating newt (Notophthalmusviridescens) tails","volume":"230","author":"Wei","year":"1996","journal-title":"J. Morphol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.biocel.2014.04.020","article-title":"Collagen XII: Protecting bone and muscle integrity by organizing collagen fibrils","volume":"53","author":"Chiquet","year":"2014","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"2353","DOI":"10.1093\/hmg\/ddt637","article-title":"Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy","volume":"23","author":"Hicks","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1002\/mus.25232","article-title":"NovelCol12A1variant expands the clinical picture of congenital myopathies with extracellular matrix defects","volume":"55","author":"Punetha","year":"2017","journal-title":"Muscle Nerve"},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Lories, R.J., and Luyten, F.P. (2013). Overview of Joint and Cartilage Biology. Genet. Bone Biol. Skelet. Dis., 209\u2013225.","DOI":"10.1016\/B978-0-12-804182-6.00013-7"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1055\/s-0038-1641570","article-title":"Muscle-Tendon-Enthesis Unit","volume":"22","author":"Huang","year":"2018","journal-title":"Semin. Musculoskelet. Radiol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/jor.23289","article-title":"Rotator cuff repair using cell sheets derived from human rotator cuff in a rat model","volume":"35","author":"Harada","year":"2017","journal-title":"J. Orthop. Res."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1055\/s-2007-965127","article-title":"The COL12A1 and COL14A1 genes and Achilles tendon injuries","volume":"29","author":"September","year":"2008","journal-title":"Int. J. Sports Med."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"145266","DOI":"10.1016\/j.gene.2020.145266","article-title":"A novel mutation in the COL12A1 gene","volume":"768","author":"Antunes","year":"2021","journal-title":"Gene"},{"key":"ref_37","first-page":"181","article-title":"No association between COL3A1, COL6A1 or COL12A1 gene variants and range of motion","volume":"31","author":"Posthumus","year":"2012","journal-title":"J. Sports Sci."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1111\/cge.13534","article-title":"Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy","volume":"95","author":"Walczak","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1136\/bjsm.2009.060756","article-title":"The association between the COL12A1 gene and anterior cruciate ligament ruptures","volume":"44","author":"Posthumus","year":"2009","journal-title":"Br. J. Sports Med."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"41","DOI":"10.2478\/bjmg-2014-0022","article-title":"Does the A9285G polymorphism in collagen type XII alpha1 gene associate with the risk of anterior cruciate ligament ruptures?","volume":"17","author":"Ficek","year":"2014","journal-title":"Balk. J. Med. Genet."},{"key":"ref_41","first-page":"341","article-title":"Interactions between collagen gene variants and risk of anterior cruciate ligament rupture","volume":"15","author":"Knight","year":"2014","journal-title":"Eur. J. Sport Sci."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"(2011). The UniProt Consortium Ongoing and Future Developments at the Universal Protein Resource. Nucleic Acids Res., 39, D214\u2013D219.","DOI":"10.1093\/nar\/gkq1020"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"22053","DOI":"10.1074\/jbc.274.31.22053","article-title":"Structural Variation of Type XII Collagen at Its Carboxyl-terminal NC1 Domain Generated by Tissue-specific Alternative Splicing","volume":"274","author":"Kania","year":"1999","journal-title":"J. Biol. Chem."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1177\/1941738112446684","article-title":"Collagen Gene Variants Previously Associated With Anterior Cruciate Ligament Injury Risk Are Also Associated With Joint Laxity","volume":"4","author":"Bell","year":"2012","journal-title":"Sports Health A Multidiscip. Approach"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1583","DOI":"10.1177\/0363546518760577","article-title":"Higher Gene Expression of Healing Factors in Anterior Cruciate Ligament Remnant in Acute Anterior Cruciate Ligament Tear","volume":"46","author":"Novaretti","year":"2018","journal-title":"Am. J. Sports Med."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.matbio.2020.10.004","article-title":"Collagen XII mediated cellular and extracellular mechanisms regulate establishment of tendon structure and function","volume":"95","author":"Izu","year":"2021","journal-title":"Matrix Biol."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/5\/690\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:57:13Z","timestamp":1760162233000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/5\/690"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,5]]},"references-count":46,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2021,5]]}},"alternative-id":["genes12050690"],"URL":"https:\/\/doi.org\/10.3390\/genes12050690","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2021,5,5]]}}}