对氧磷酶1基因rs662位点单核苷酸多态性与男性不育发病风险的相关性研究  

Correlation of the single nucleotide polymorphism rs662 of PON1 with the risk of male infertility

作　　者：刘海红[1] 赵军 许瑾[3] 朱培冉 余毛毛 蒋卫军[4] 张静[4] 李卫巍[4] 吴秋月[4] 李正荣[2] 夏欣一[4] LIU Hai-hongl;ZHAO Jun;XU Jin;ZHU Pei-ran;YU Mao-mao;JIANG Wei-jun;ZHANG Jing;LI Wei-wei;WU Qiu-yue;LI Zheng-rong;XIA Xin-yi(Department of Laboratory,Lianyungang First People ＂s Hospital,Lianyungang,Jiangsu 222000,China;School of Basic Medical Sciences,Nanjing Medical University,Nanjing,Jiangsu 211166,China;Kangda College,Nanjing Medical University,Lianyungang,Jiangsu 222000,China;PLA Research Institute of Clinical Laboratory Medicine,Nanjing General Hospital of Nanjing Military Region,Nanjing,Jiangsu 210002,China)

机构地区：[1]连云港市第一人民医院检验科,江苏连云港222000 [2]南京医科大学基础医学院,江苏南京211166 [3]南京医科大学康达学院,江苏连云港222000 [4]南京军区南京总医院解放军检验医学研究所,江苏南京210002

出　　处：《中华男科学杂志》2018年第8期708-712,共5页National Journal of Andrology

基　　金：江苏省大学生创新创业训练计划(201613980001Y);南京市科技计划(201605004)~~

摘　　要：目的:探讨对氧磷酶1(PON1)基因rs662(c.575A>G)位点单核苷酸多态性与男性不育发病风险之间的相关性。方法:采用病例-对照研究的方法,选取403例特发性男性不育患者作为病例组,329例正常生育的男性作为对照组。病例组年龄为(29.00±4.48)岁,对照组年龄为(28.28±4.08)岁。取外周静脉血,并用DNA试剂盒提取DNA,随后用Sequenom Mass Array技术对PON1 rs662位点进行基因分型,分析PON1 rs662位点不同基因型与男性不育发病风险之间的相关性。结果:病例组与对照组相比,卵泡刺激素[(16.30±17.76)U/L vs(4.72±2.51)U/L]、前向运动精子百分率[(7.40±14.17)%vs(41.93±9.06)%]、精子浓度[(2.74±3.64)×10~6/ml vs(75.83±63.66)×10~6/ml]存在明显差异且具有统计学意义(P<0.01),其他参数无统计学意义的差异。杂合突变型GA与野生型纯合GG相比较:OR=0.98,95%CI:0.63~1.53,P=0.923,纯合突变型AA与野生型纯合GG相比较:OR=0.87,95%CI:0.56~1.34,P=0.525。两组结果均显示PON1 rs662位点与男性不育发病风险之间无相关性,各亚组分析显示该基因多态性位点与男性不育发病风险之间不存在相关性。结论:PON1rs662位点基因多态性与男性不育发病风险之间不存在相关性,但是由于实验样本条件的限制,需要更大的样本量以及样本选取范围进行进一步研究。Objective： To investigate the correlation between the single nucleotide polymorphism （SNP） rs662 of the paraoxo- nase 1 gene （ PON1 ） and the risk of male infertility. Methods ： This case-control study included 403 male idiopathic infertility pa- tients aged 29.00 ± 4.48 years in the case group and 329 normal fertile men aged 28.28±4.08 years as healthy controls. We ob- tained DNA from the peripheral venous blood of the subjects, genotyped the SNP rs662 of PON1 by Sequenom MassArray, and ana- lyzed the association between different genotypes of PON1 rs662 and male infertility using the logistic regression model. Results： Compared with the normal controls, the infertility patients showed a significantly increased level of follicle-stimulating hormone （FSH） （ [16.30 ± 17.76] vs [4.72 ± 2.51] U/L, P 〈 0.01） but a decreased percentage of progressively motile sperm （PMS） （ [7.40 ±14.17] % vs [41.93±9.06] %, P 〈 0.01） and sperm concentration （[2.74±3.64] vs [75.83±63.66] ×10^6/ml, P 〈 0.01 ）. Statistically significant differences were not found in the other parameters between the two groups of subjects, nor in the cor- relation of male infertility with the heterozygous genotype GA versus the wild homozygous genotype GG （ OR = 0.98, 95 % CI ： 0.63 - 1.53, P = 0. 923） or the homozygous genotype AA versus the wild homozygous genotype GG （OR = 0.87, 95% CI： 0.56 -1.34, P = 0. 525 ）. Conclusion ： The SNP rs662 of PON1 was not correlated with male infertility, which, however, needs to be confirmed by further studies with larger samples from a larger area.

关 键 词：对氧磷酶1 男性不育 单核苷酸多态性 

分 类 号：R698.2[医药卫生—泌尿科学]