Association Of Tag SNPs Of Genes Related To Bone、Cartilage Development With The Risk Of DDH

Objective : The objective of this study is to screen the potential candidate genes of DDH。Genotyping of several Tag SNPs loci related to bone,、cartilage development and with the MALDI-TOF-MS,To investigate the link between DDH and these loci.This study may provide important molecular proof for the DDH screening 、 diagnosis and treatment。Methods: Genotyped in 80 adults with DDH and 80 control subjects with MALDI-TOF-MS and their association was evaluated statistically.Results: 1.The genotype and allele frequency of SOX9 gene rs12601701,rs1042667 have show no significant association between case and control group.But AA genotype frequency(17.5%)in DDH group was significantly decline compare with control group(31.6%).And C-A haplotype frequency in DDH group was significantly increased than control group(53.7%vs46.3% p=0.062).In recessive logistic regression,the polymorphism of rs1042667 have show significant association with DDH risk(P=0.040).2.The genotype and allele frequency of SHH gene rs872723 have show no significant association between case and control group。But CT genotype frequency(8.9%)in DDH group was significantly decline compare with control group(19%).rs872723 was accociated with degree of DDH dislocation in the recessive genetic model(CT+CC/TT)(p=0.029).3 、 The genotype of COL1A1-rs2269336 have statistically significant trend with DDH risk(P=0.054)。 And CG genotype frequency(32.5%)in DDH group was significantly declining compare with control group(51.2%).And CG genotype may reduce the risk of DDH.4、The genotype of ASPN-rs13301537 have statistically significant trend with DDH risk(P=0.083).And AG genotype frequency(32.5%)in DDH group was significantly to rise to compare with control group(17.5%),AG genotype may have higher risk of DDH.Clinical phenotype analysis shows that under dominant and recessive,the polymorphism of rs7860786 has show significant association with DDH type(P=0.001 P=0.000).Conclusion: SOX9 、 SHH 、 COL1A1 、 ASPN gene polymorphism may be associated with the pathogenesis of DDH...