title: Analysis of the association of COL2A1 and IGF-1 with mandibular prognathism in a Chinese population.
abstract: OBJECTIVE
  In this study, we performed a case-control association analysis to determine whether the candidate genes COL2A1 and IGF-1 are susceptibility genes for mandibular prognathism (MP).
  
  
  METHODS
  Eleven and five single-nucleotide polymorphisms (SNPs) located in COL2A1 and IGF-1, respectively, were selected and genotyped in 211 cases and 224 controls. The individual SNPs 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 SNPs, the SNP rs1793953 in the COL2A1 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.
  
  
  CONCLUSIONS
  An association between polymorphism in the COL2A1 gene and MP was observed. The results suggested that the COL2A1 gene could be a new susceptibility gene for use in the study of genetic risk factors for MP.
authors.affiliation: Faculty of Dentistry, Prince Phillip Dental Hospital, The University of Hong Kong, Hong Kong SAR, China.
authors.forename: F
authors.initials: F
authors.lastname: Xue
authors.forename: A B M
authors.initials: AB
authors.lastname: Rabie
authors.forename: G
authors.initials: G
authors.lastname: Luo
mesh_terms: D000225:Adenine; D000293:Adolescent; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D024043:Collagen Type II / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D055106:Genome-Wide Association Study; D005838:Genotype; D006147:Guanine; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D006723:Hong Kong; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000235:genetics*; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011378:Prognathism / Q000235:genetics*
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II; D006147:Guanine; D007334:Insulin-Like Growth Factor I; D000225:Adenine
keywords: COL2A1; IGF-1; SNPs; association study; mandibular prognathism