Yu Mao-Mao, Guo Li-Li, Zhu Pei-Ran, Wu Qiu-Yue, Zhang Jing, Sun Hong-Bo, Yin Yu-Ling, Zhi Hui-Jie, Zhou Li, Xia Xin-Yi
Research Institute of Life Sciences, Jiangsu University, Zhenjiang, Jiangsu 212013, China.
Department of Laboratory Medicine, Drum Tower Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu 210008, China.
Zhonghua Nan Ke Xue. 2018 Jun;24(6):509-515.
To study the relationship of the single nucleotide polymorphisms (SNP) rs34349826 (c.104 A>G) and rs6521 (c.114 C>G) of the luteinizing hormone beta-subunit (LHB) gene with male infertility in Chinese men.
This case-control study included 405 males with primary infertility (the infertility group) and 424 normal fertile men (the control group), the former again divided into subgroups of oligospermia, severe oligozoospermia and azoospermia according to the sperm concentration. Clinical data were collected from all the subjects and genomic DNA obtained from their peripheral blood for genotyping rs34349826 and rs6521 of the LHB gene by Sequence MassArray. We analyzed the correlation of male infertility with the SNPs of the two loci using the logistic regression model as well as its association with their haplotype combination with the SHEsis online software.
There were statistically significant differences between the control and infertility groups in the semen volume (［3.51 ± 1.36］ vs ［3.74 ± 1.71］ ml, P <0.05), sperm concentration (［79.21 ± 61.60］ vs ［27.37 ± 30.80］ ×10⁶/ml, P <0.01), percentage of progressively motile sperm (［39.40 ± 9.64］ % vs ［11.90 ± 14.72］ %, P <0.01), and levels of serum luteinizing hormone (LH) (［3.29 ± 1.39］ vs ［6.25 ± 4.83］ IU/L, P <0.01) and follicle-stimulating hormone (FSH) (［4.56 ± 2.31］ vs ［15.64 ± 17.03］ IU/L, P <0.01). Logistic regression analysis revealed no correlation between male infertility and the genotypes of the rs34349826 and rs6521 loci of the LHB gene, and similar results were found in the subgroups of the infertile males. SHEsis analysis on the haplotypes of the rs34349826 and rs6521 loci showed the GG genotype combination to be a protective factor against male infertility.
The rs34349826 and rs6521 loci of the LHB gene were not related to male infertility, which can be further confirmed by larger-sample studies. The GG genotype combination is a protective factor against male infertility.
研究促黄体生成素β亚基（LHB）基因单核苷酸多态性（SNP）rs34349826（c.104 A>G）和rs6521（c.114 C>G）与中国男性不育症的关系。
本病例对照研究纳入405例原发性不育男性（不育组）和424例正常生育男性（对照组），不育组再根据精子浓度分为少精子症、严重少精子症和无精子症亚组。收集所有受试者的临床资料，并从其外周血中获取基因组DNA，采用Sequenom MassArray技术对LHB基因的rs34349826和rs6521进行基因分型。我们使用逻辑回归模型分析男性不育与这两个位点SNP的相关性，并使用SHEsis在线软件分析其与单倍型组合的关联性。
对照组和不育组在精液量（［3.51±1.36］ vs ［3.74±1.71］ml，P<0.05）、精子浓度（［79.21±61.60］ vs ［27.37±30.80］×10⁶/ml，P<0.01）、进行性运动精子百分比（［39.40±9.64］% vs ［11.90±14.72］%，P<0.01）以及血清促黄体生成素（LH）水平（［3.29±1.39］ vs ［6.25±4.83］IU/L，P<0.01）和卵泡刺激素（FSH）水平（［4.56±2.31］ vs ［15.64±17.03］IU/L，P<0.01）方面存在统计学显著差异。逻辑回归分析显示男性不育与LHB基因rs34349826和rs6521位点的基因型之间无相关性，在不育男性亚组中也得到了类似结果。对rs34349826和rs6521位点单倍型的SHEsis分析表明，GG基因型组合是男性不育的一个保护因素。
LHB基因的rs34349826和rs6521位点与男性不育无关，这一点可通过更大样本量的研究进一步证实。GG基因型组合是男性不育的一个保护因素。
