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

        Cannarella Rossella,Musso Nicolò,Condorelli Rosita A.,Musmeci Marco,Stefani Stefania,La Vignera Sandro,Calogero Aldo E. 대한남성과학회 2021 The World Journal of Men's Health Vol.39 No.3

        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.

      • KCI등재

        IGF2 and IGF1R mRNAs Are Detectable in Human Spermatozoa

        Rossella Cannarella,Rosita A. Condorelli,Sandro La Vignera,Catia Bellucci,Giovanni Luca,Riccardo Calafiore,Aldo E. Calogero 대한남성과학회 2020 The World Journal of Men's Health Vol.38 No.4

        Purpose: Oligozoospermia is highly prevalent worldwide. Studies have reported a lower methylation rate in the H19 differentially methylated region at the sperm level in oligozoospermic patients than in controls. IGF2/H19 are the best-known pair of imprinted genes. However, no studies have yet evaluated whether they are transcribed in human sperm. To assess whether IGF2 and IGF1R mRNAs are present in human sperm and if their levels are correlated with sperm concentration and total sperm count. Materials and Methods: Sperm samples (n=22) underwent reverse-transcription quantitative polymerase chain reaction using specific primers to detect IGF2 and IGF1R mRNA levels. They were then correlated with patients’ conventional sperm parameters using the Spearman (τ) and Kendall (ρ) rank correlation coefficients. Results: Statistically significant positive correlations were found between IGF2 mRNA levels and sperm concentration (τ= 0.403, p<0.01; ρ=0.587, p<0.005) and total sperm count (τ=0.347, p<0.024; ρ=0.509, p<0.015). IGF1R mRNA levels were positively correlated with sperm concentration (τ=0.595, p<0.001; ρ=0.774, p<0.001) and total sperm count (τ=0.547, p< 0.001; ρ=0.701, p<0.001). Apart from IGF1R mRNA and sperm morphology (τ=0.325, p<0.05; ρ=0.461, p<0.05), no additional correlations were found between the levels of these transcripts and other conventional sperm parameters. Conclusions: IGF2 and IGF1R mRNAs were found to be present in human spermatozoa and their transcription levels were positively correlated with sperm concentration and total sperm count. Spermatozoa are the only source of IGF2 mRNA since IGF2 is a paternally-inherited gene. Further studies are needed to evaluate its role in human fertilization.

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      • KCI등재

        Epigenetics of Male Fertility: Effects on Assisted Reproductive Techniques

        Filippo Giacone,Rossella Cannarella,Laura M. Mongioì,Angela Alamo,Rosita A. Condorelli,Aldo E. Calogero,Sandro La Vignera 대한남성과학회 2019 The World Journal of Men's Health Vol.37 No.2

        During the last decades the study of male infertility and the introduction of the assisted reproductive techniques (ARTs) has allowed to understand that normal sperm parameters do not always predict fertilization. Sperm genetic components could play an important role in the early stages of embryonic development. Based on these acquisitions, several epigenetic inves-tigations have been developed on spermatozoa, with the aim of understanding the multifactorial etiology of male infertility and of showing whether embryonic development may be influenced by sperm epigenetic abnormalities. This article reviews the possible epigenetic modifications of spermatozoa and their effects on male fertility, embryonic development and ART outcome. It focuses mainly on sperm DNA methylation, chromatin remodeling, histone modifications and RNAs.

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