Class III malocclusion is one of the most common dentofacial malformations which Mandibular protrusion (overgrowth of the mandible) may lead to this phenotype. Genetics, environment or a combination of these factors can cause this protrusion. The Col2A1 gene, which affects 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 Col2A1 gene loci and mandibular prognathism by in silico methods. In this research, NCBI database was used for gene analysis and selection of single nucleotide polymorphisms, and online servers PolyPhen-2, PROVEAN, SIFT and Mutation assessor were used to investigate the effect of these SNPs on pathogenicity and protein damage. The results of our studies showed that between two missense polymorphisms rs3803183 and rs2070739, the rs2070739 can be deleterious and damaging. Also analyzing by KEGG server showed Col2A1 may cause abnormal growth in mandibular condyle (The rounded protuberance on the back of the mandible) by activating signaling pathways such as CD44-casscade and affecting chondrocyte differentiation. Therefore, it seems that the rs2070739 of Col2A1 gene can play an important role in the formation of mandibular prognathism.
