中国汉族人群DNMT基因单核苷酸多态性与弱精子症的相关性研究  

Association of DNMT Polymorphisms with Asthenozoospermia in a Chinese Han population

作　　者：李琦[1] 欧光鑫[2] 杨学习[3] 余庆锋[4] 叶禄伟[1] 毛向明[1] 

机构地区：[1]南方医科大学附属南方医院泌尿外科,广州510515 [2]肇庆市第一人民医院泌尿外科 [3]南方医科大学生物技术学院抗体工程研究所 [4]汕头市中心医院泌尿外科

出　　处：《中国男科学杂志》2014年第5期15-19,共5页Chinese Journal of Andrology

摘　　要：目的：探讨DNMT 基因（DNA methyltransferase）单核苷酸多态性（SNP）与弱精子症男性不育的关系。方法本研究检测了中国南方人群中DNMT1（rs2114724, rs2228611, rs2228612, rs8101866, rs16999593）, DNMT2（rs11254413），DNMT3A （rs1550117, rs11887120, rs13420827, rs13428812, rs6733301）, DNMT3B （rs2424908,rs2424913）和DNMT3L （rs113593938）14个SNPs与弱精子症的相关性。运用Sequenom MALDI-TOF-MS 平台技术对特发性弱精子症不育患者（病例组，n=195）和正常精子活力男性（对照组，n=184）精液样本DNA进行基因分型。通过遗传平衡检验（Hardy-Weinberg Equilibrium test, HWE）样本结果，卡方检验和logistic回归分析所有基因型分布和等位基因频率。结果这些检测的SNPs中，DNMT3A基因rs13428812位点与弱精子症相关（OR=1.54；95%CI：1.02-2.13； P=0.039）。其余位点未检查出与弱精子症的相关性。结论 DNMT3A基因rs13428812位点可能与弱精子症密切相关，但是机制尚不明确。Objective To investigate the association between DNMT gene polymorphism and asthenozoospermia. Methods The associations of 14 single nucleotide polymorphisms （SNPs） from DNMT1 （rs2114724, rs2228611, rs2228612, rs8101866, rs16999593）, DNMT2 （rs11254413）, DNMT3A （rs1550117, rs11887120, rs13420827, rs13428812, rs6733301）, DNMT3B （rs2424908, rs2424913） and DNMT3L （rs113593938） with asthenozoospermia in the population of South China were assessed in the study. The SNPs genotyping was carried out in 195 idiopathic asthenospermia patients and 184 age-matched healthy volunteers using the Sequenom MALDI-TOF-MS platform. After HWE, the genotype and allele frequencies were calculated and analyzed with Chi-square test and logistic regression. Results Among these SNPs, rs13428812 in DNMT3A was significantly associated with increased asthenozoospermia risk （odds ratio [OR], 1.54; 95%confidence interval [95%CI], 1.02-2.13; P = 0.039）. However, no other associations were found. Conclution These results indicate that DNMT3A （rs13428812） may contribute to asthenozoospermia, but the detail mechanisms were still unknown.

关 键 词：弱精子症 DNA甲基转移酶 多态性  单核苷酸 精子能动性 汉族 

分 类 号：R698.2[医药卫生—泌尿科学]