Analysis of the association of COL 2 A 1 and IGF ‐1 with mandibular prognathism in a C hinese population

Structured Abstract Objective In this study, we performed a case–control association analysis to determine whether the candidate genes COL 2A1 and IGF ‐1 are susceptibility genes for mandibular prognathism ( MP ). Methods Eleven and five single‐nucleotide polymorphisms ( SNP s) located in COL 2A1 and IGF ‐1 , respectively, were selected and genotyped in 211 cases and 224 controls. The individual SNP s and the relevant haplotypes were analyzed and tested for an association with MP , to identify genes potentially associated with MP . Results In the analysis of individual SNP s, the SNP rs1793953 in the COL 2A1 gene showed a possible association with MP with regard to allelic frequency and genotypic distribution ( p  =   0.031; p  =   0.025, respectively) in the 211 cases and 224 controls. The A allele of rs1793953 was associated with a significantly decreased risk of MP ( OR : 0.74; 95% CI : 0.58–0.97). Linkage disequilibrium and haplotype analysis revealed that MP was not associated with haplotypes that included the rs1793953 alleles. IGF ‐1 gene did not show the association with MP . Conclusion An association between polymorphism in the COL 2A1 gene and MP was observed. The results suggested that the COL 2A1 gene could be a new susceptibility gene for use in the study of genetic risk factors for MP .