Analysis of COL1A1 and MMP9 single nucleotide polymorphisms in mandibular prognathism

Abstract

Mandibular prognathism (MP) belongs to malocclusions of skeletal Class III and is characterized by overgrowth of the lower jaw with or without undergrowth of the upper jaw. MP etiology is multifactorial, including both environmental and genetic factors. It is conceivable that single nucleotide polymorphisms (SNPs) in genes controlling craniofacial development might contribute to MP. The aim of the present study was to establish a potential association between COL1A1 -1997 G>T (rs1107946) and MMP9 -1562 C>T (rs3918242) SNPs and MP in Serbian population. This case-control study included 120 participants: 60 patients with MP and 60 controls with skeletal Class I. The two SNPs were analyzed by means of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The association of gene variants with MP risk was determined by calculating odds ratios (OR) and their 95% confidence intervals (CI).There was no difference in SNPs allele frequencies, and no difference could be observed in MMP9 -1562 C>T genotypes distribution between cases and controls. However, the TT genotype of COL1A1-1997 G/T (rs1107946) polymorphism was associated with a two-fold increase of mandibular prognathism risk, though with a borderline statistical significance (OR 2.32, CI 0.97-5.53, p=0.055). COL1A1-1997 G/T (rs1107946) appears to be implicated in Class III mandibular prognathism while MMP9 -1562 C/T (rs3918242) does not seem to be a risk factor for the development of this type of craniofacial anomaly.