Genetic Association Analysis On Single Nucleotide Polymorphisms Of Several Candidate Genes In Women With M�llerian Duct Anomalies

Objective: M�llerian duct anomalies refer to a congenital women reproductive system malformation disease because of the stasis,dysplasia or improper fusion/absorb disorder of M�llerian duct during the embryonic development.This study aims to investigate the association between the polymorphisms of several candidate genes and M�llerian duct anomalies in women.Methods: Our study was a case-control trial.362 women with M�llerian duct anomalies who dignosed by hysteroscopy,laparoscopy or hysterosalpingography were allocated as case group.406 infertility women only with tubal factors or male factors were recruited as control group.We drew blood from all the women and extracted the genomic DNA from peripheral leukocytes.The 15 single nucleotide polymorphisms of10 genes,including HOXA9(rs7810502),HOXA13(rs757181),WNT5A(rs7622120),WNT9B(rs12601196,rs4968280),KISS1(rs2510,rs4889),RARA?(rs482284,rs9303286),LHX1(rs3785949),EMX2(rs2240776),CFTR(rs213950),RARG(rs6580936,rs941138,rs1465058)were selected through 1000 genome and Hap Map database.Genotyping and data collection was performed by Sequenom Massarray system.And we used SPSS 13.0 software to compare the distributions of genotypes and alleles frequencies between cases and controls.Results: According to the criteria of the elimination,4 SNPs(rs7810502,rs757181,rs7622120,rs4889)were exclude in the calculation.Aim at the 11 SNPs,we compared the frequencies of genotypes and alleles between the cases and controls and find one SNP rs4968280 of WNT9 B gene has a statistically significant difference in distributions of genotypes between the two groups(P<0.05).In dominant models,we found that TC+CC variants could increase the risk of affect MDAs.But it showed no statistically significant difference after Bonferroni correction.The rest of SNPs have showned no significant difference in the frequencies of genotypes and alleles.Conclusions: Whether the rs4968280 of WNT9 B gene might affect the women M�llerian duct anamolies susceptibility need further research.And the rest of the SNPs variants might not influenced the genetic susceptibilities of M�llerian duct anomalies.