PMID- 29658239 OWN - NLM STAT- MEDLINE DCOM- 20180815 LR - 20220318 IS - 1009-3591 (Print) IS - 1009-3591 (Linking) VI - 23 IP - 1 DP - 2017 Jan TI - [Gene polymorphisms of estrogen receptor alpha correlated with hypospadias in children]. PG - 61-64 AB - OBJECTIVE: To investigate the association of the polymorphisms of the gene of estrogen receptor alpha 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 (chi2 = 8.552) and rs6932902 (chi2 = 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. FAU - Zhang, Zhi-Hui AU - Zhang ZH AD - Department of Urology, Hongqi Hospital of Mudanjiang Medical College, Mudanjiang, Heilongjiang 157011, China. FAU - Wang, Shu-Hui AU - Wang SH AD - Department of Integrated Traditional Chinese and Western Medicine, Hongqi Hospital of Mudanjiang Medical College, Mudanjiang, Heilongjiang 157011, China. FAU - Bai, Ji-Xiang AU - Bai JX AD - Department of Urology, Hongqi Hospital of Mudanjiang Medical College, Mudanjiang, Heilongjiang 157011, China.. LA - chi PT - Journal Article PL - China TA - Zhonghua Nan Ke Xue JT - Zhonghua nan ke xue = National journal of andrology JID - 101093592 RN - 0 (ESR1 protein, human) RN - 0 (Estrogen Receptor alpha) SB - IM MH - *Alleles MH - Case-Control Studies MH - Child, Preschool MH - China MH - Estrogen Receptor alpha/*genetics MH - Genotype MH - Haplotypes MH - Humans MH - Hypospadias/*genetics MH - Male MH - Polymorphism, Single Nucleotide MH - Risk OTO - NOTNLM OT - estrogen receptor alpha OT - hypospadias OT - single nucleotide polymorphism EDAT- 2017/01/01 00:00 MHDA- 2018/08/16 06:00 CRDT- 2018/04/17 06:00 PHST- 2018/04/17 06:00 [entrez] PHST- 2017/01/01 00:00 [pubmed] PHST- 2018/08/16 06:00 [medline] PST - ppublish SO - Zhonghua Nan Ke Xue. 2017 Jan;23(1):61-64.