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COL5A1 RS12722 Is Associated with Temporomandibular Joint Anterior Disc Displacement without Reduction in Polish Caucasians.

ABSTRACT: 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's 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.

SUBMITTER: Dalewski B

PROVIDER: S-EPMC8470511 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:ObjectivesThe aim of this study was to investigate the role of ESR1 rs1643821 and TNF-α rs1800629 as potential genetic factors regulating anterior disc displacement without reduction-mediated inflammatory pathway.BackgroundThe temporomandibular joint is a complex synovial joint that allows mandibular movement in three directions. Although temporomandibular disorders are widespread, limited data is available on the biochemical characteristics of the displaced disc and quality of the surrounding soft tissue. Changes in degenerative tissue provoke disc displacement which involves secretion of inflammatory markers and sequential conversion of fibroblast-like cells into chondrocyte-like cells. Due to the high occurrence in female adolescents, the potential role of sex hormones in temporomandibular joint disorders has been speculated. Furthermore, anterior disc displacement without reduction severely affects the quality of life.Methods124 Caucasian patients with a history of at least one anterior disc displacement without reduction within 3 months were enrolled. Anterior disc displacement without reduction was diagnosed based on clinical examination, diagnostic criteria (DC)/TMD, and cone-beam computed tomography/magnetic resonance imaging (CBCT/MRI). The control group consisted of 126 patients with no temporomandibular joint disorders. Genotyping of two single nucleotide polymorphisms, estrogen receptor 1 (ESR1) rs1643821, and tumor necrosis factor α (TNF-α) rs1800629 was performed.ResultsESR1 rs1643821 showed significant P values (using chi-square analysis) revealing the difference in anterior disc displacement without reduction frequencies while TNF-α rs1800629 polymorphism was found to be statistically insignificant when compared to the control group. Furthermore, patients with a genotype of ESR1 rs1643821 showed a decreased probability (OR = 0.412) against anterior disc displacement without reduction when compared to the GG genotype (OR = 1).ConclusionESR1 rs1643821 with A allele frequency was lower in patients with anterior disc displacement without reduction compared to the control group. Thus, the rs1643821 variant is significantly associated with susceptibility to the anterior disc displacement without a reduction in European Caucasians. Conversely, TNF-α rs1800629 was a statistically insignificant factor against anterior disc displacement without reduction when compared to the control group.

Project description:Background and Objective:Intra-articular temporomandibular disorders are often related to pain in the area of the temporomandibular joint, ear, and temple. The aim of the study was to investigate the efficiency of anterior repositioning splints in decreasing pain related to temporomandibular joint disc displacement with reduction. Methods:The research material consisted of 112 patients, aged 24 to 45 years, of both genders, who reported for treatment at the Consulting Room of Temporomandibular Joint Dysfunctions at the Jagiellonian University in Cracow between 2014 and 2016 due to pain in the area of the temporomandibular joint(s) and noise(s) of temporomandibular joint(s) present during jaw movements with comorbid contracture of masticatory muscles. Subjects were examined according to the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) protocol and, after diagnosis of painful disc displacement with reduction and masticatory muscle contracture, they were assigned randomly to either the study or control groups (56 patients in each). In the study group, we used an anterior repositioning splint on the full lower arch for about 20 hours usage over a 4-month period. In the control group, a noninvasive therapy was applied using a biostimulation laser over 12 sessions performed every second day on the area of both temporomandibular joints with mouth open and while performing muscle self-exercises with a dominant protrusive position of the mandible. Pain intensity was evaluated using the Verbal Numerical Rating Scale (VNRS) immediately before the treatment and then after 4 and 16 weeks. The obtained data were analyzed using the Mann-Whitney U test (p ? 0.005). Results:The VNRS values reported during the final examination for the study group were significantly lower than for the control group (p=0.0004). Conclusions:The anterior repositioning splint is an efficient tool in decreasing pain related to disc displacement with reduction. This trial is registered with Clinicaltrials.gov NCT03057262.

Project description:Temporomandibular dysfunction involving anterior disc derangement with or without reduction, secondary to posterior ligament insufficiency is typically managed conservatively with success in a majority of patients. When conservative management fails, the next step in the continuum of care is unclear. Platelet-rich plasma injection combined with a 3-week immobilization period may be effective in treating posterior ligament insufficiency following a period of physical therapy. The result of this case was exceptionally successful, with the patient reporting 100% improvement 6 months post-injection. Prior to this case, we predicted a 20% success rate based on her inability to maintain the effects of conservative management over the long term.A 33-year-old white woman presented with temporomandibular dysfunction, which responded to an initial course of physical therapy aimed at restoring the mechanics of her temporomandibular joint, exercise management, and education on self-management strategies. She returned 20 months later and responded well to another course of physical therapy. Despite improvement in pain, range of motion, and mechanics, she continued to present with a reduction click at the end range of opening. The crisp and loud nature of the reduction click indicated a viable posterior ligament and reduction of the anteriorly displaced disc. She opted for platelet-rich plasma injection, provided by a chronic pain specialist with the assistance of a physical therapist. She was immobilized for 3 weeks, followed by a weaning period with reduced posterior support for an additional 5 weeks. Follow-up appointments with a physical therapist occurred at 3 weeks, 8 weeks, and 6 months post-injection.At 6 months, she reported 100% improvement. Objectively, there was no indication that the disc condyle relationship was disrupted. At 6 months post-platelet-rich plasma injection, preceded by a period of conservative physical therapy management, and followed with appropriate physical therapy follow-up, this individual had complete resolution of her anterior disc derangement with reduction.

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COL5A1 RS12722 Is Associated with Temporomandibular Joint Anterior Disc Displacement without Reduction in Polish Caucasians.

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