雌激素受体α基因多态性与东北地区儿童尿道下裂相关性分析

发布时间：2018-06-30 21:36

本文选题：尿道下裂 + 雌激素受体α　；参考：《中华男科学杂志》2017年01期

【摘要】：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,P0.05);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),P0.05];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),P0.01]。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,P0.05),而C-G单体型显著高于正常对照组(7.06%vs 2.42%,P0.05)。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。
[Abstract]:Objective: to study the association between rs2077647 and rs6932902 polymorphism of estrogen receptor 伪 gene (ESR1) and the susceptibility to hypospadias in children in Northeast China. Methods: 95 children of hypospadias group (3.2 卤0.6 years old) and 105 children of control group (3.1 卤0.7 years old) were selected. The genotypes of rs2077647 and rs6932902 loci of ESR1 gene were detected by PCR and gene sequencing. Results: the genotypes and alleles of rs2077647 and rs6932902 loci in hypospadias and normal controls were detected by PCR and gene sequencing. The C allele of rs2077647 locus in hypospadias group was significantly higher than that in normal control group (51.4%vs 35.8%), the difference was statistically significant (P 0.05); the single nucleotide polymorphism of rs6932902 locus in hypospadias group was significantly higher than that in normal control group (P 0.05); the single nucleotide polymorphism of rs6932902 locus in hypospadias group was G et al. The proportion of the locus gene was significantly lower than that of the normal control group (49.5% vs 68.1%), and the difference was statistically significant [OR2.263 (1.503c3.408) P0.01]. The ratio of T-A haplotype in hypospadias group was significantly lower than that in normal control group (11.93% vs 16.93%), while C-G haplotype was significantly higher than that in normal control group (7.06%vs 2.42 P 0.05). Conclusion two rs2077647 and rs6932902 loci of ESR1 were associated with the susceptibility of children to hypospadias, and the haplotypes of the two loci were also related to the susceptibility to hypospadias.
【作者单位】：牡丹江医学院红旗医院泌尿外科;牡丹江医学院红旗医院中西医结合科;
【分类号】：R726.9

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