Correlation Of Single Nucleotide Polymorphisms Of NPR3 Gene And COL11A2 Gene With Idiopathic Short Stature

Objective: Idiopathic short stature (ISS) is a multi-gene disease.Its etiopathogenisis is not yet clear,and it's a heterogeneous disease,in which genetic factors play a major role.Its main clinical manifestation is pituitary growth hormone insulin-like growth factor 1 axis and bone growth plate dysfunction.Based on the important role of the growth plate in the pathogenesis of ISS,we study single nucleotide polymorphisms of NPR3 gene and COL11A2 gene which in the growth plate to identify the correlation with the ISS.Methods: 1,We drew DNA from the blood of the case group by Phenol chloroform method, extracted DNA from the blood of the control group directly,and detected DNA purity by using the nucleic acid protein cryoscope.2,We selected twenty tSNP of NPR3 gene and COL11A2 gene and genotyped allele frequencies of the 185 ISS cases'DNA and 474 control cases'DNA in Illumina Goldengate genetic analysis plateform.3,The results of the genotyping were checked with Hardy-Weinberg genetic equilibrium tests to determine whether the genotype frequencies have genetic equilibrium,and represented general population.4,It was compared that frequency distribution of the allele,genotype and the dominant or recessive model's genotype withχ2 test between the case group and control group,and the analytical results of genotype and allele were showed with the relative risk ratio (Odds ratio,OR) and 95% confidence interval (CI).Results:1,NPR3 gene locus rs973079 is related to ISS,CC,CT genotype are risk factors.2,NPR3 gene loci rs6889608,rs696831,rs16890208 and rs1173747 have nothing to do with the morbility of ISS.3,COL11A2 gene loci rs9368758,rs970901 and rs9277934 are related to ISS:AA, AG genotype of locus rs9368758,A allele and AA genotype of locus rs970901,C allele and CC genotype of locus rs9277934 are risk factors.4,COL11A2 gene loci rs2855440,rs2855437 and rs1799908 are related to ISS:A allele and AA,AG genotype of locus rs2855440,C allele and CC,CT genotype of locus rs2855437 and AA genotype of locus rs1799908 are protective types.5,COL11A2 gene locus rs12526336 is related to ISS,with A recessive model.More samples are needed to clarify the correlation of AA genotype with ISS.6,COL11A2 gene loci rs2257126,rs986522,rs2855430 and rs2071025 are unconcerned with the morbility of ISS.Conclusion: 1,SNPs of NPR3 gene locus rs973079 and of COL11A2 gene loci rs9368758,rs970901,rs9277934,rs2855440,rs2855437,rs1799908,rs12526336 are related to the morbility of ISS. ISS is a multi-gene and heterogeneous disease.2,SNPs of NPR3 gene loci rs6889608,rs696831,rs16890208,rs1173747 and of COL11A2 gene loci rs2257126,rs986522,rs2855430,rs2071025 are unconcerned with the morbility of ISS.