超氧化物歧化酶2基因rs4880位点单核苷酸多态性与男性不育发病风险的相关性研究

Nucleotide polymorphism rs4880 of the SOD2 gene and the risk of male infertility

目的:探讨超氧化物歧化酶2(SOD2)基因rs4880位点单核苷酸多态性与男性不育发病风险的相关性。方法:采用病例-对照研究的方法,选取519例特发性男性不育患者作为病例组,年龄19~40(28.92±4.37)岁,并按精子浓度和前向运动(PR)精子百分率分为无精子症组(n=143)、严重少精子症组(n=175)、少精子症组(n=89)和弱精子症组(n=112)4个亚组;以338例正常生育的男性作为对照组,年龄19~40(28.40±4.25)岁,进行临床数据的采集。用Sequenom Mass Array技术对SOD2 rs4880位点进行基因分型,用Logistic回归模型分析SOD2 rs4880位点不同基因型与男性不育之间的关系。结果:病例组与正常对照组FSH、PR精子百分率、精子浓度存在显著差异(P<0.01)。与野生型纯合TT比较,杂合突变型TC(OR=0.90,95%CI:0.65~1.25,P=0.516)与纯合突变型CC(OR=1.49,95%CI:0.38~5.81,P=0.566)均显示与男性不育无相关性;亚组分析中均显示该基因位点与男性不育不存在相关性:无精子症组中,TC/TT(OR=0.99.95%CI:0.62~1.58,P=0.967),CC/TT(OR=1.58,95%CI:0.26~9.59,P=0.619;严重少精子症组中,TC/TT(OR=1.07.95%CI:0.70~1.64,P=0.750),CC/TT(OR=1.31,95%CI:0.22~7.96,P=0.767;少精子症组中,TC/TT(OR=0.83.95%CI:0.47~1.48,P=0.535),CC/TT(OR=1.22,95%CI:0.13~11.90,P=0.865);弱精子症组中,TC/TT(OR=0.59.95%CI:0.33~1.05,P=0.074),CC/TT(OR=1.84,95%CI:0.30~11.16,P=0.510)。结论:SOD2 rs4880位点基因多态性与男性不育不存在相关性,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来进一步研究验证。

Objective： To investigate the correlation of the single nucleotide polymorphism（ SNP） rs4880 of the superoxide dismutase 2（ SOD2） gene with the risk of male infertility. Methods： This case-control study included 519 male patients with idiopathic infertility（ aged 19- 40 [28. 93 ± 4. 93] years） in the case group and 338 fertile men（ aged 19- 40 [28. 40 ± 4. 25] years） in the control group. We collected the clinical data,genotyped the SNP rs4880 of the SOD2 gene by Sequenom Mass Array,and analyzed the association of different genotypes with male infertility using the logistic regression model. Results： Statically significant differences were observed between the case and control groups in the level of follicle-stimulating hormone（ FSH）（ [4. 72 ± 2. 51] vs [15. 65 ±17. 24] U / L,P〈0. 01）,the percentage of progressively mobile sperm（ [9. 12 ± 13. 5] vs [41. 95 ± 9. 03]%,P〈0. 01）,and sperm concentration（ [12. 95 ± 24. 38] vs [72. 88 ± 45. 60] × 106/ ml,P〈0. 01）,but not in other parameters. No correlation was found between male infertility and the heterozygous genotype TC（ OR = 0. 90,95% CI： 0. 65- 1. 25,P = 0. 516） or the homozygous genotype CC（ OR = 1. 49,95% CI： 0. 38- 5. 81,P = 0. 566） as compared with the wild genotype TT,and similar results were obtained in the analysis of the subgroups. Conclusion： The SNP rs4880 of the SOD2 gene was not correlated with male infertility,which,however,is to be supported by further studies with larger samples from more areas.