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,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。
Objective ： To investigate the association of the polymorphisms of the gene of estrogen receptor α1 （ 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 polymor- phisms 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 nor- mal 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 ）. Conclusion ： The rs207.7647 and rs6932902 polymorphisms of the ESR1 gene are associated with the risk of hypospadias, and so is its haplotype in chil- dren in Northeast China.
出处
《中华男科学杂志》
CAS
CSCD
北大核心
2017年第1期61-64,共4页
National Journal of Andrology
关键词
尿道下裂
雌激素受体Α
单核苷酸多态性
hypospadias
estrogen receptor c~
single nucleotide polymorphism
