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Gene polymorphisms of estrogen receptor α correlated with hypospadias in children / 中华男科学杂志
National Journal of Andrology ; (12): 61-64, 2017.
Article in Zh | WPRIM | ID: wpr-812809
Responsible library: WPRO
ABSTRACT
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.
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Full text: 1 Index: WPRIM Main subject: Haplotypes / Case-Control Studies / China / Risk / Polymorphism, Single Nucleotide / Estrogen Receptor alpha / Alleles / Genetics / Genotype / Hypospadias Type of study: Etiology_studies / Observational_studies / Risk_factors_studies Limits: Child, preschool / Humans / Male Country/Region as subject: Asia Language: Zh Journal: National Journal of Andrology Year: 2017 Type: Article
Full text: 1 Index: WPRIM Main subject: Haplotypes / Case-Control Studies / China / Risk / Polymorphism, Single Nucleotide / Estrogen Receptor alpha / Alleles / Genetics / Genotype / Hypospadias Type of study: Etiology_studies / Observational_studies / Risk_factors_studies Limits: Child, preschool / Humans / Male Country/Region as subject: Asia Language: Zh Journal: National Journal of Andrology Year: 2017 Type: Article