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Analysis of COL1A1 and MMP9 single nucleotide polymorphisms in mandibular prognathism

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.