Laboratory of Physiology, Faculty of Health Sciences, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Unit of Reproductive Endocrinology, First Department of Obstetrics and Gynecology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
J Endocrinol Invest. 2017 Jul;40(7):721-726. doi: 10.1007/s40618-017-0637-7. Epub 2017 Feb 21.
Although several epidemiological studies have been conducted, the impact of follicle-stimulating hormone receptor (FSHR) polymorphisms on male infertility remains unclear. The aim of this study was to investigate the prevalence of specific FSHR single nucleotide polymorphisms (SNPs) in the Greek population and associate the latter with the clinical phenotype.
We enrolled 96 subjects: men with idiopathic non-obstructive azoospermia (n = 78) were compared with a control group of fertile men (n = 18) for SNPs in FSHR positions c.-29, c.566, c.919, and c.2039. The SNP in position 566 (c.566C > T) was assessed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and the other three SNPs (c.-29G > A, c.919A > G, c.2039A > G) with single-strand conformation polymorphism (SSCP); all of them were validated with DNA sequence.
No polymorphisms were detected in positions c.-29 and c.919 (c.-29G > A, c.919A > G). The heterozygous SNP (AG) at position 2039 was associated with different size of the right testis (p = 0.008). There was no association between the c.566C > T SNPs polymorphism and hormonal or semen parameters. The combination SNP 2039 AA with 566 CT revealed significant association with FSH and LH concentrations.
FSHR SNPs at positions c.-29, c.566, c.919, and c.2039 (c.-29G > A, c.566C > T, c.919A > G, c.2039A > G) do not appear to play specific roles in male infertility. Larger studies are needed to confirm these results.
尽管已有多项流行病学研究，但卵泡刺激素受体（FSHR）多态性对男性不育的影响仍不清楚。本研究旨在调查希腊人群中特定 FSHR 单核苷酸多态性（SNP）的流行情况，并将其与临床表型相关联。
我们纳入了 96 例患者：78 例特发性非梗阻性无精子症患者与 18 例生育力正常的男性进行对照，比较 FSHR 位置 c.-29、c.566、c.919 和 c.2039 的 SNP。位置 566（c.566C> T）的 SNP 通过聚合酶链反应限制片段长度多态性（PCR-RFLP）进行评估，其余三个 SNP（c.-29G> A、c.919A> G、c.2039A> G）通过单链构象多态性（SSCP）进行评估；所有 SNP 均通过 DNA 序列进行验证。
位置 c.-29 和 c.919 未检测到多态性（c.-29G> A、c.919A> G）。位置 2039 的杂合 SNP（AG）与右侧睾丸大小不同相关（p=0.008）。c.566C> T SNP 多态性与激素或精液参数之间无关联。c.2039AA 与 c.566CT 的组合 SNP 与 FSH 和 LH 浓度显著相关。
FSHR 位置 c.-29、c.566、c.919 和 c.2039（c.-29G> A、c.566C> T、c.919A> G、c.2039A> G）的 SNP 似乎在男性不育中没有特定作用。需要更大的研究来证实这些结果。
