Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
Syst Biol Reprod Med. 2010 Feb;56(1):84-90. doi: 10.3109/19396360903456676.
Follicle-stimulating hormone (FSH) is crucial for male fertility and it exerts its effects via a gonad-specific receptor (FSHR). In the present study, the common G-29A, A919G, and A2039G polymorphisms in the FSHR gene were analysed in 150 (36 non-obstructive azoospermia and 114 individuals with oligozoospermia) patients and 208 normozoospermic men. The results showed that the FSHR polymorphisms were not associated with either azoo- or oligozoospermia as the distributions of alleles, genotypes, and haplotypes among patients and controls were similar. Amongst normozoospermic men, those carrying at least one minor A allele (GA and AA genotypes) of the G-29A polymorphism had a smaller mean testicular volume compared to men with GG homozygosity (25.8 ml vs. 27.4 ml, respectively; P=0.013). In a subsequent meta-analysis combining our data with previous studies, the G-29-A919-A2039 haplotype was shown to be more prevalent in normozoospermic men than in azoospermic patients (38.4% vs. 33.9%, respectively; chi(2)test, P=0.045), indicating that this haplotype may be a protective factor against male sterility. In conclusion, we suggest that FSHR haplotypes are not considerable risk factors for spermatogenic failure. The protective nature of G-29-A919-A2039 haplotype cannot be concluded without additional studies.
卵泡刺激素（FSH）对男性生育能力至关重要，它通过性腺特异性受体（FSHR）发挥作用。在本研究中，分析了 FSHR 基因中的常见 G-29A、A919G 和 A2039G 多态性，共涉及 150 名（36 名非梗阻性无精子症和 114 名少精子症患者）和 208 名正常精子密度男性。结果表明，FSHR 多态性与无精子症或少精子症无关，因为等位基因、基因型和单倍型在患者和对照组中的分布相似。在正常精子密度男性中，与 GG 纯合子相比，携带至少一个 G-29A 多态性的次要 A 等位基因（GA 和 AA 基因型）的男性睾丸体积较小（分别为 25.8ml 和 27.4ml，P=0.013）。在随后的一项荟萃分析中，我们将数据与之前的研究相结合，发现 G-29-A919-A2039 单倍型在正常精子密度男性中比在无精子症患者中更为常见（分别为 38.4%和 33.9%，chi(2)检验，P=0.045），表明该单倍型可能是男性不育的保护因素。总之，我们认为 FSHR 单倍型不是精子发生衰竭的重要危险因素。没有额外的研究，就不能得出 G-29-A919-A2039 单倍型具有保护作用的结论。
