[Gene polymorphisms of estrogen receptor α correlated with hypospadias in children].

OBJECTIVE

To investigate the association of the polymorphisms of the gene of estrogen receptor α 1 (ESR1) with the risk of hypospadias in children of Northeast China.

METHODS

This study included 95 hypospadias patients aged 3.2±0.6 years and 105 children aged 3.1±0.7 years as normal controls. Using PCR and gene sequencing, we determined the genotypes of the polymorphisms of ESR1 rs2077647 and rs6932902 in the two groups of subjects.

RESULTS

The results of PCR and gene sequencing showed statistically significant differences in the genotype and allele frequency distribution of the polymorphisms rs2077647 (χ2 = 8.552) and rs6932902 (χ2 = 16.251) (P<0.05) in the hypospadias and control groups. The hypospadias patients, in comparison with the normal controls, exhibited a markedly higher frequency of the SNP C allele in rs2077647 (OR = 1.410 ［1.130－1.759］, P<0.05), but a remarkably lower frequency of the SNP G allele in rs6932902 (OR = 2.263 ［1.503－3.408］, P<0.01).

CONCLUSIONS

The rs2077647 and rs6932902 polymorphisms of the ESR1 gene are associated with the risk of hypospadias, and so is its haplotype in children in Northeast China.