FSHB基因-211G/T多态性对男性性腺功能的影响。
Impact of the FSHB gene -211G/T polymorphism on male gonadal function.
作者信息
Tamburino L, La Vignera S, Tomaselli V, Condorelli R A, Mongioì L M, Calogero A E
机构信息
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.
出版信息
J Assist Reprod Genet. 2017 May;34(5):671-676. doi: 10.1007/s10815-017-0896-4. Epub 2017 Mar 9.
PURPOSE
The FSHB gene -211G/T polymorphism has been reported to modulate gene expression and to cause inter-individual differences in FSH serum levels in men. This study was undertaken to assess the functional relevance of this polymorphism on gonadotropin and total testosterone serum levels and sperm parameters in men from Eastern Sicily (Italy).
METHODS
To accomplish this, 200 men with abnormal conventional sperm parameters or normozoospermia (according to the parameters of WHO 2010) were genotyped by TaqMan Assay.
RESULTS
The frequency of FSHB -211 T allele was significantly higher (p < 0.005) in patients with altered conventional sperm parameters (18.9% of chromosomes) compared to that observed in men with normozoospermia (10.9% of chromosomes). Decreasing serum levels of FSH and LH were observed across the three FSHB -211 genotype subgroups (p < 0.001 and p < 0.05, respectively). In addition, the FSHB -211G/T polymorphism showed a total testosterone downward trend that became more evident in men with the TT genotype compared to subjects with the GG genotype (p = 0.05). Furthermore, we found a trend towards decreased sperm concentration, total sperm count, sperm forward motility and testicular volume in men with GT and TT genotypes.
CONCLUSIONS
These findings showed that the FSHB -211 G/T polymorphism modulates male gonadal function with a clear influence on hormonal levels and sperm parameters.
CAPSULE
The present study was undertaken to evaluate the distribution of the FSHB -211 G/T in men with normal or abnormal sperm parameters from Southern Italy to assess its functional relevance on the serum levels of reproductive hormones and on sperm parameters in men.
目的
据报道，FSHB基因-211G/T多态性可调节基因表达，并导致男性血清促卵泡激素（FSH）水平存在个体差异。本研究旨在评估该多态性对意大利西西里岛东部男性促性腺激素、总睾酮血清水平及精子参数的功能相关性。
方法
为此，采用TaqMan分析法对200名常规精子参数异常或精子正常（根据世界卫生组织2010年参数）的男性进行基因分型。
结果
与精子正常的男性（染色体的10.9%）相比，常规精子参数改变的患者中FSHB -211 T等位基因频率显著更高（p < 0.005）（染色体的18.9%）。在三个FSHB -211基因型亚组中均观察到FSH和LH血清水平下降（分别为p < 0.001和p < 0.05）。此外，FSHB -211G/T多态性显示出总睾酮呈下降趋势，与GG基因型受试者相比，TT基因型男性更为明显（p = 0.05）。此外，我们发现GT和TT基因型男性的精子浓度、总精子数、精子前向运动能力和睾丸体积有下降趋势。
结论
这些发现表明，FSHB -211 G/T多态性调节男性性腺功能，对激素水平和精子参数有明显影响。
总结
本研究旨在评估意大利南部精子参数正常或异常男性中FSHB -211 G/T的分布，以评估其对男性生殖激素血清水平和精子参数的功能相关性。
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