World J Mens Health.  2021 Jul;39(3):516-525. 10.5534/wjmh.200070.

Combined Effects of the FSHR 2039 A/G and FSHR-29 G/A Polymorphisms on Male Reproductive Parameters

Affiliations
  • 1Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
  • 2Department of Biomedical and Biotechnological Science, BIOMETEC, University of Catania, Catania, Italy
  • 3Department of Biomedical and Biotechnological Science, BIOMETEC-Sect. of Microbiology, University of Catania, Catania, Italy

Abstract

Purpose
The aim of this study was to evaluate the combined effect of FSHR 2039 A/G and FSHR-29 G/A single nucleotide polymorphisms (SNPs) on the male reproductive function in a cohort of Sicilian men.
Materials and Methods
One-hundred thirty Sicilian men were enrolled and underwent blood withdrawal for hormone measurement and FSHR 2039 A/G and FSHR-29 G/A SNP genotyping, testicular volume evaluation by ultrasound scan, and semen analysis. A meta-analysis of the FSHR -29 G/A SNP, evaluated in a previous study of the Sicilian population was done.
Results
No genotype of the FSHR 2039 A/G SNP correlated with serum follicle-stimulating hormone (FSH) levels, testicular volume, sperm concentration, and total sperm count. In contrast, normozoospermic men with FSHR -29 GG and FSHR -29 GA genotypes had significantly lower sperm concentrations compared to men with the FSHR -29 AA genotype. The other sperm parameters did not show any significant difference. The meta-analysis showed no significant difference in serum FSH levels, testicular volume, sperm concentration, and total sperm count between FSHR -29 GG and FSHR -29 AA in Sicilian men. No difference was found even when the two SNPs were evaluated in combination. However, this combination was present, as expected, only in a low proportion (3.8%) of the men studied.
Conclusions
The SNPs FSHR 2039 A/G and FSHR -29 G/A in combination did not seem to have any effect on male reproductive function in a cohort of Sicilian men. The effect of these SNPs has only been studied in granulosa cells so far. Further studies on their role in Sertoli cells are needed.

Keyword

Follicle stimulating hormone; Oligozoospermia; Single nucleotide polymorphism; Spermatozoa
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