Department of Clinical and Experimental Medicine, University of Catania, Policlinico "G. Rodolico", Via S. Sofia 78, Bldg 4, Rm 2C17, 95123, Catania, Italy.
Department of Political and Social Sciences, University of Catania, Via Vittorio Emanuele 49, 95100, Catania, Italy.
J Assist Reprod Genet. 2017 Oct;34(10):1289-1294. doi: 10.1007/s10815-017-0970-y. Epub 2017 Jun 17.
The functional role of the FSHR promoter -29G/A polymorphism (rs1394205) in men is not clear. Some studies failed to find a relationship between the FSHR -29G/A and follicle-stimulating hormone (FSH) levels and did not associate the SNP with male infertility. Only one study showed that the FSHR -29 SNP modulates serum FSH levels in Baltic young male cohort. Because the SNP -29G/A has to be shown to have a strong effect on in vitro transcription activity of the FSHR promoter and the activation of FSHR is necessary for a normal FSH function, this study was undertaken to assess whether the FSHR -29G/A SNP modulates the gonadal endocrine function in men.
A total of 200 men with alteration of conventional sperm parameters or normozoospermia (according to the parameters WHO 2010), were genotyped by TaqMan Assay. Hormone levels were measured by immunoassay, and sperm analysis was performed according to the World Health Organization criteria.
A significant gradient of increasing FSH levels across the FSHR -29G/A genotypes was observed (p < 0.01). Among normozoospermic men (n = 110), those with FSHR -29A-allele carriers (GA + AA and AA) had higher serum FSH (p < 0.01) and LH levels (p < 0.05) and higher body mass index (BMI) (p < 0.01) compared to men with the GG genotype. The carrier status of rs1394205 genotypes did not affect the other endocrine parameters neither in men with altered sperm parameters nor in normozoospermic men.
The FSHR -29G/A polymorphism modulates FSH and, for the first time, LH serum levels and BMI in normozoospermic men. These findings underline the importance to pay close attention to the studies of genetic variations associated with clinical-endocrine parameters.
FSHR 启动子-29G/A 多态性（rs1394205）在男性中的功能作用尚不清楚。一些研究未能发现 FSHR-29G/A 与卵泡刺激素（FSH）水平之间存在关系，也没有将该 SNP 与男性不育联系起来。只有一项研究表明，FSHR-29 单核苷酸多态性调节波罗的海年轻男性队列的血清 FSH 水平。由于 SNP-29G/A 必须显示对 FSHR 启动子的体外转录活性有很强的影响，并且 FSHR 的激活对于正常的 FSH 功能是必要的，因此进行了这项研究，以评估 FSHR-29G/A SNP 是否调节男性的性腺内分泌功能。
共对 200 名常规精子参数改变或正常精子（根据 2010 年世界卫生组织参数）的男性进行 TaqMan 分析。通过免疫测定法测量激素水平，并根据世界卫生组织标准进行精子分析。
观察到 FSHR-29G/A 基因型之间 FSH 水平呈显著递增梯度（p<0.01）。在正常精子男性（n=110）中，FSHR-29A-等位基因携带者（GA+AA 和 AA）的血清 FSH（p<0.01）和 LH 水平（p<0.05）以及体重指数（BMI）较高（p<0.01）与 GG 基因型的男性相比。rs1394205 基因型的携带状态既不影响改变精子参数的男性的其他内分泌参数，也不影响正常精子男性的其他内分泌参数。
FSHR-29G/A 多态性调节 FSH，并且首次调节正常精子男性的 LH 血清水平和 BMI。这些发现强调了密切关注与临床内分泌参数相关的遗传变异研究的重要性。
