MATN1 gene variant (rs1065755) and malocclusion risk: Evidence from Romanian population analysis

Abstract

Malocclusion, characterized by its diverse phenotypic expression, significantly impacts patients’ quality of life. Over recent years, extensive attention has been directed towards the genetic basis of this condition, particularly focusing on various polymorphisms of the MATN1 gene. Among these, the rs1065755 polymorphism has emerged as particularly relevant, associated with an elevated risk of mandibular prognathism. In this study, employing DNA sequencing, we investigated the extent of association between the rs1065755 SNP and malocclusion risk within the Romanian population. Our approach concentrated on assessing continuous phenotypic variation through four cephalometric measurements, aiming for a comprehensive understanding beyond categorical phenotypes. The findings shed light on the relationship between the MATN1 rs1065755 SNP and the investigated dentofacial disorder, revealing a positive association between TT homozygous individuals and Class II skeletal malocclusion. However, further investigations employing larger sample sizes are necessary to validate these findings conclusively. Keywords: malocclusion, MATN1, rs1065755, cephalometric measurements.