乙酰基转移酶2基因单核苷酸多态性与男性不育发病风险的相关性研究

Single nucleotide polymorphisms of the N-acetyltransferase 2 gene not correlated with male infertility

目的：探讨乙酰基转移酶2基因（NAT2）的rs1799930和rs1799931单核苷酸多态性与南京地区男性不育发病风险的相关性。方法：采用病例-对照研究,选取636例特发性男性不育患者作为病例组,年龄20~44（28.45±4.38）岁;442例有生育史的健康男性作为对照组,年龄21~35（28.30±3.46）岁。取外周静脉血,用Sequenom Mass Array技术检测这2个位点的基因型,Logistic回归模型分析不同基因型与男性不育的相关性,单倍型分析2个位点连锁效应和4种基因型组合与男性不育的关系。结果：病例组和对照组精子浓度[（32.32±45.49）×10~6/ml vs（72.77±45.21）10~6/ml]、前向运动精子百分率[（15.29±5.06）%vs（42.02±9.04）%]、卵泡刺激素水平[（14.69±12.37）U/L vs（4.72±2.51）U/L]差异有统计学意义（P均〈0.01）,其他参数病例组与对照组无统计学意义的差异。2个位点各基因型频率和等位基因频率在各种模型中均与男性不育无统计学意义的相关性;单倍型分析表明,rs1799930和rs1799931存在连锁效应（D＇=0.998,r_2=0.05）,但4种基因型组合与男性不育也无明显相关性。结论：NAT2基因的rs1799930和rs1799931位点的单核苷酸多态性与特发性男性不育的发病风险无相关性。该位点与男性不育具体关系有待更大样本量加以证实。

Objective： To investigate the correlation of the single nucleotide polymorphisms（SNPs） rs1799930 and rs1799931 of the N-acetyltransferase 2 gene（ NAT2） with the risk of male infertility in Nanjing area. Methods： We made a case-control study of 636 cases of male idiopathic infertility and 442 normal fertile men as controls. We genotyped the two SNPs by Sequenom Mass Array,analyzed the correlation of different genotypes with male infertility using the logistic regression model,and determined the association of the linkage effect of the two SNPs with male infertility by haplotype analysis. Results： Statistically significant differences were found between the case and control groups in sperm concentration（[32. 32 ± 45. 49] vs [72. 77 ± 45. 21] × 10~6/ ml,P 0. 01）,the percentage of progressively motile sperm（[15. 29 ± 5. 06] vs [42. 02 ± 9. 04]%,P 0. 01）,and the level of follicle-stimulating hormone（[14. 69 ± 12. 37] vs [4. 72 ± 2. 51] U / L,P 0. 01）,but not in other parameters. No correlation was observed between the frequencies of the two SNPs or alleles in different models and male infertility. Haplotype analysis suggested a linkage effect within rs1799930 and rs1799931（D＇ = 0. 998,r_2= 0. 05） but no evident correlation between male infertility and genotype combination.Conclusion： The SNPs rs1799930 and rs1799931 of the NAT2 gene were not found to be correlated with the risk of idiopathic infertility in men.