Investigating the Association between Col۲a۱ Gene Variants with Mandibular Prognathism

Class III malocclusion is one of the most common dentofacial malformations which Mandibular protrusion (overgrowth of the mandible) may lead to this phenotype. Genetic, environmental, or a combination of these factors can cause this protrusion. The Col۲A۱ gene, which effects on chondrocyte differentiation and cartilage formation, has been reported in association with this phenotype. The aim of this study is investigating the association between genetic polymorphisms of Col۲A۱ gene loci and mandibular prognathism by in silico method. In this research, NCBI database was used for gene analysis and selection of single nucleotide polymorphisms, and online servers PolyPhen-۲, PROVEAN, SIFT and Mutation assessor were used to investigate the effect of these SNPs on pathogenicity and protein damaging. The results of our studies showedthat between two missense polymorphisms rs۳۸۰۳۱۸۳ and rs۲۰۷۰۷۳۹, the rs۲۰۷۰۷۳۹ can be deleterious and damaging. Also analyzing by KEGG server (To study cell-signaling pathways) showed rs۲۰۷۰۷۳۹ may cause abnormal growth in mandibular condyle (The rounded protuberance on the back of the mandible) by involving in signaling pathways such as CD۴۴-casscade and effect on chondrocyte differentiation. Therefore, it seems that the rs۲۰۷۰۷۳۹ of Col۲A۱ gene can play an important role in the formation of mandibular prognathism.

کلیدواژه ها:

Mandibular protrusion ، Missense polymorphisms ، Col۲A۱ gene ، Chondrocyte ، CD۴۴ pathway ، Dentofacial malformation