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.

Age-Related Alterations of Hyaluronan and Collagen in Extracellular Matrix of the Muscle Spindles

“…These results have confirmed the findings of another study demonstrating that older adults have thicker MS capsules [ 11 ]. Moreover, these findings are consistent with those of some studies that highlighted the role of the collagens in various diseases and tissues [ 21 , 22 , 23 ]. Parkes et al [ 21 ] reported the prominent role of collagen and HA in the ECM of ovaries, suggesting their crucial activity for ovarian homeostasis, possibly through signaling events or tissue micromechanism.…”

“…Cell behavior is profoundly affected by the environment in which they live, thus the aging of the ECM is central to understanding age-related changes [ 17 ]. Nowadays, ECM’s role has been highlighted in different diseases and tissues [ 19 , 20 , 21 , 22 , 23 ].…”

Are commercial genetic injury tests premature?

“…50 Recently, the TT genotype has also been reported to be associated with increased risk of TMJ displacement (Figure 2). 51 Although the rs12722 polymorphism was not associated with non-contact soft tissue injuries (Table S3 and Figure 2), 52,53 other studies have reported the COL5A1 T allele is associated with slower post exercise-induced muscle damage recovery 34 and the TT genotype is associated with the severity but not the incidence of musculoskeletal injuries in professional soccer players. 54…”

Signs, Symptoms, and Morphological Features of Idiopathic Condylar Resorption in Orthodontic Patients: A Survey-Based Study

“…Furthermore, condylar resorption after surgical mandibular advancement may be associated with coexisting disc displacement [ 22 , 23 ]. Recently, Dalewski et al [ 24 , 25 ] have explored the genetic susceptibility to anterior disc displacement without reduction (ADDwoR) in European Caucasians and reported that the COL5A1 and ESR1 receptors are a risk factor for ADDwoR, indicating the possibility of genetic susceptibility to ICR. Advancing the mandible in a patient with anteriorly displaced discs causes the discs to remain displaced, as the condyles move toward the superoposterior position in the glenoid fossa due to postsurgical soft tissue tension [ 23 ].…”