Bruksizmli Bireylerde COMT rs4680 ve 5HTR2A rs6311 Polimorfizmleri

Öz

Amaç: Diş gıcırdatma ve sıkma ile karakterize, yaygın görülen bir oral durum olan bruksizm, multifaktöriyel yapısı nedeniyle yönetimi güç bir tablodur. Stres, uyku kalitesi, oklüzyon düzensizlikleri ve genetik faktörlerle ilişkilidir. Dopamin, merkezi sinir sistemi ve periferik organlarda kritik bir rol oynar. Katekol-O-metiltransferaz (COMT) enzimi dopamin metabolizmasını düzenler ve COMT rs4680 polimorfizminin çeşitli ruhsal bozukluklarla ilişkili olduğu bildirilmiştir. Bruksizmin ayrıca 5-Hidroksitriptamin Reseptör 2A (5HTR2A) rs6311 polimorfizmi ile de ilişkili olabileceği düşünülmektedir. Bu çalışmanın amacı, bruksizmi olan bireyler ve sağlıklı katılımcılarda bu iki gen polimorfizmi arasındaki ilişkiyi araştırmaktır. Yöntem: Çalışmaya bruksizmi olan 10 birey ve yaş ile cinsiyet açısından eşleştirilmiş sağlıklı kontrol grubundaki katılımcılar dahil edildi. Tüm katılımcılardan periferik kan örnekleri alındı ve laboratuvarda genomik DNA izole edildi. COMT rs4680 ve 5HTR2A rs6311 polimorfizmlerinin genotiplendirilmesi, TaqMan Genotipleme Kitleri kullanılarak gerçek zamanlı polimeraz zincir reaksiyonu (qPCR) ile gerçekleştirildi. Bulgular: COMT rs4680 polimorfizminin genotip dağılımı ve allel frekansları açısından hasta ve kontrol grupları arasında istatistiksel olarak anlamlı bir fark saptanmadı. Buna karşın, 5HTR2A rs6311 polimorfizmi için allel frekansları bruksizm ve kontrol grupları arasında anlamlı düzeyde farklı bulundu (p=0,0267) ve T allelinin bruksizmi olan bireylerde daha sık görüldüğü belirlendi. Sonuç: Bulgular, özellikle T allelini vurgulayarak, 5HTR2A rs6311 polimorfizmi ile bruksizm arasında olası bir ilişkiye işaret etmektedir. Ayrıca COMT rs4680 polimorfizmi açısından hasta ve kontrol grupları arasında istatistiksel olarak anlamlı bir fark gösterilememiştir. Bununla birlikte, örneklem büyüklüğünün sınırlı olması nedeniyle, bulgularımızın doğrulanması ve bruksizme katkıda bulunan genetik faktörlerin daha iyi aydınlatılması için daha büyük örneklemlere sahip çalışmalar ve kapsamlı genetik analizler gerekmektedir.

Anahtar Kelimeler

• Bruksizm
• COMT
• 5HTR2A
• polimorfizm

The Preliminary COMT rs4680 and 5HTR2A rs6311 Polymorphisms in Patients with Bruxism

Abstract

Aim: Bruxism, is a common oral condition characterised by teeth grinding and clenching and presents significant challenges in management due to its multifactorial nature. It is associated with stress, sleep quality, occlusion irregularities and genetic factors. Dopamine plays a crucial role in the central nervous system and peripheral organs. The catechol-O-methyltransferase (COMT) enzyme regulates dopamine metabolism and COMT rs4680 polymorphism has been associated with various mental disorders. Bruxism may also be association with the 5-Hydroxytryptamine Receptor 2A (5HTR2A) rs6311 polymorphism. The aim of this study was to investigate the association between these two gene polymorphisms in individuals with bruxism and healthy controls. Method: The study included 10 participants with bruxism and age- and sex-matched healthy controls. Peripheral blood samples were obtained from all participants, and genomic DNA was isolated in the laboratory. Genotyping of the COMT rs4680 and 5HTR2A rs6311 polymorphisms was performed using real-time polymerase chain reaction (qPCR) with TaqMan Genotyping Assays. Results: No statistically significant differences were observed between patients and controls in the genotype distribution or allele frequencies of the COMT rs4680 polymorphism. In contrast, for the 5HTR2A rs6311 polymorphism, allele frequencies differed significantly between the bruxism and control groups (p=0.0267), with the T allele being more frequent among individuals with bruxism. Conclusion: The findings suggest a potential association between the 5HTR2A rs6311 polymorphism and bruxism, specifically implicating the T allele. Furthermore, particularly for the COMT rs4680 polymorphism, there have been no statistically significant differences found between control group and patient. However, due to the limited sample size, further research with larger sample sizes and comprehensive genetic analyses is warranted to validate our findings and elucidate the genetic factors contributing to bruxism.

Keywords

• Bruxism
• COMT
• 5HTR2A
• polymorphism

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