COL12A1 Single Nucleotide Polymorphisms rs240736 and rs970547 Are Not Associated with Temporomandibular Joint Disc Displacement without Reduction

Abstract

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.

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

“…Interestingly, COL12A1 rs970547 and rs240736 were not associated with ADDwoR in a study by Dalewski et al; hence, the entire project was performed in Polish Caucasians [29]. A similar study by Stępień-Słodkowska et al scrutinized the relationship between the rs12722 and rs13946 COL5A1 polymorphisms and ACL ruptures in Polish recreational skiers [30].…”

The Influence of the COVID-19 Pandemic on the Stress Levels and Occurrence of Stomatoghnatic System Disorders (SSDs) among Physiotherapy Students in Poland

“…Long-term symptoms of SSDs may contribute to irreversible changes in this system, resulting in impaired chewing, swallowing, speech, and breathing functions [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]. Additionally, long-term reports about TMJ internal derangements were released [21][22][23][24][25]. Hypothalamus, limbic system and reticular formation are responsible for psychological processes in humans [26].…”

Association of COL12A1 rs970547 Polymorphism with Elite Athlete Status

“…The majority of replicated markers were identified using hypothesis-driven studies targeting genes encoding proteins involved in biological and molecular processes. These include specific single nucleotide polymorphisms (SNP) of genes influencing the soft-tissue structure and affecting the mechanical properties of the muscle-tendon unit, e.g., genes encoding the structural, collagen type I, V, and XII proteins (COL1A1, COL5A1, COL12A1) [ 2 , 5 , 6 ]. Collagens are a large family of structural proteins composed of 28 types of collagen, the main components of structural connective (tendons, ligaments, and other components of musculoskeletal tissues), and epithelial tissues, accounting for about 20% of total body weight [ 7 ].…”

“…Types XII collagen belongs to a family of non-fibrillar collagens that are also associated with the surface of the collagen fibril and are members of the FACITs subfamily. The COL12A1 gene, mapped to chromosome 6q12-q13, encodes the alpha1 chains of the long (XIIA) and short (XIIB) homotrimeric isoforms of collagen type XII [ 2 , 5 , 8 ]. The main functions of type XII collagen are: participates in the formation of fibers together with type XV collagen; forms internal interfibrillar connections and regulates the interaction of collagen fibers with intracellular and the cell surface in ligaments; regulates the response to mechanical pressure; during wound healing, this type of collagen increases along with collagen types V and III [ 8 ].…”