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目的:研究雌激素受体α基因(ESR1)rs2077647和rs6932902位点多态性与中国东北地区儿童尿道下裂遗传易感性之间的关联。方法:选取尿道下裂组儿童95例,年龄(3.2±0.6)岁;对照组儿童105例,年龄(3.1±0.7)岁。采用PCR和基因测序检测所有研究对象ESR1基因rs2077647和rs6932902位点的基因型,进行病例对照研究。结果:经PCR和基因测序检测,尿道下裂组和正常对照组rs2077647和rs6932902位点基因型及等位基因分布频率,差异有统计学意义(χ~2=8.552,χ~2=16.251,P<0.05);尿道下裂组rs2077647位点单核苷酸多态性的C等位基因比例显著高于正常对照组(51.4%vs 35.8%),差异有统计学意义[OR=1.410(1.130~1.759),P<0.05];尿道下裂组rs6932902位点单核苷酸多态性的G等位基因比例明显低于正常对照组(49.5%vs68.1%),差异有统计学意义[OR=2.263(1.503~3.408),P<0.01]。尿道下裂组T-A单体型比例显著低于正常对照组(11.93% vs 16.93,P<0.05),而C-G单体型显著高于正常对照组(7.06%vs 2.42%,P<0.05)。结论:ESR1 rs2077647和rs6932902 2个位点与儿童尿道下裂易感性相关,其构成的单体型也与尿道下裂易感性相关。
AIM: To investigate the association between estrogen receptor α (ESR1) rs2077647 and rs6932902 polymorphisms and the genetic susceptibility of children with hypospadias in northeast China. Methods: Ninety-five children with hypospadias were selected, aged (3.2 ± 0.6) years. In the control group, 105 children (3.1 ± 0.7) years old. Genotypes of rs2077647 and rs6932902 of ESR1 gene in all the subjects were detected by PCR and gene sequencing, and a case-control study was conducted. Results: The genotype and allele frequency of rs2077647 and rs6932902 in hypospadias group and normal control group were significantly different (χ ~ 2 = 8.552, χ ~ 2 = 16.251, P <0.05). The proportion of C allele of SNP rs2077647 in hypospadias group was significantly higher than that in the control group (51.4% vs 35.8%, OR = 1.410 (1.130 ~ 1.759), P <0.05]. The G allele of SNP rs6932902 in hypospadia group was significantly lower than that in the control group (49.5% vs68.1%) [OR = 2.263 (1.503 ~ 3.408), P <0.01]. The proportion of T-A haplotype in hypospadia group was significantly lower than that in normal control group (11.93% vs 16.93, P <0.05), while C-G haplotype was significantly higher than that in control group (7.06% vs 2.42%, P <0.05). Conclusion: The two loci of ESR1 rs2077647 and rs6932902 are related to the susceptibility to hypospadias in children. The haplotypes of ESR1 rs2077647 and rs6932902 are also associated with the susceptibility to hypospadias.