Association between mandibular prognathism and Matrilin-1, bone morphogenic protein, Tyr67Asn, homeobox protein hox-A2, Rho-GTPase activating protein, and Myosin 1H genes in the Indian population

Abstract

Introduction: Mandibular prognathism (MP) patients present with aesthetic concerns and functional issues, including difficulties in mastication and pronunciation. Studies revealed that mandibular prognathism had definitive Mendelian inheritance patterns. This study aimed to ascertain distinct genetic markers associated with mandibular prognathism in individuals of Indian descent, focusing on exploring the prevalent genetic variations associated with certain genes. This study sought to identify the association of the following gene markers with mandibular prognathism: 1) Matrilin-1 (MATN1) (rs1065755), 2) Bone morphogenic protein 3 (BMP-3) (Tyr67Asn), 3) Homeobox protein hox-A2 (HOXA2) (Val327Ile), 4) Rho-GTPase activating protein (ARHGAP 21) (Gly1121Ser), 5) Myosin 1H (MYO1H) (rs10850110) Materials and methods: Forty subjects (age group 18–30 years) were chosen based on their clinical examination, study model, and lateral cephalogram. Ten subjects had normal skeletal jaw-base relationships, and 30 had prognathic mandibles (skeletal class III jaw-base relationships). Two milliliters of blood were taken from each person. The genes, as mentioned above, associated with mandibular prognathism were studied. To assess the association between genetic markers and mandibular prognathism, the following statistical tests were used: an unpaired t-test was used to compare the mean values of continuous variables between the normal and prognathic groups; a chi-square test was used to evaluate the association between genetic markers and the jaw-base relationship; and an odds ratio was used to assess the strength of association between genetic markers and the prognathic mandible. Statistical analyses were conducted using SPSS software. Results: Out of five single nucleotide polymorphisms (SNP) selected in the study, namely rs10850110, rs1065755, rs111419738, rs143043350, and rs74764079, three SNPs—rs111419738, rs143043350, and rs74764079—did not show differences in the genotypes among the study and control samples. Thus, this indicates that these three SNPs may be related to mutations seen in MP in other populations but do not exhibit any association with the people covered in this study. The other two SNPs, rs10850110 and rs1065755, showed variant genotypes in control and study samples. Conclusions: Our research found that rs10850110 and rs1065755 positively correlated with mandibular prognathism. Further studies are needed to see the association between these two restriction sites in MP subjects.