Analysis of COL1A1 and MMP9 single nucleotide polymorphisms in mandibular prognathism
Author:
Milosevic Olga1, Nikolic Nadja2, Carkic Jelena2ORCID, Majstorovic Nemanja1, Glisic Branislav1ORCID, Milasin Jelena2ORCID
Affiliation:
1. University of Belgrade, School of Dental Medicine, Clinic for Orthodontics, Belgrade, Serbia 2. University of Belgrade, School of Dental Medicine, Department of Human Genetics, Belgrade, Serbia
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.
Funder
Ministry of Education, Science and Technological Development of the Republic of Serbia
Publisher
National Library of Serbia
Subject
Plant Science,Genetics
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