Abstract
ABSTRACTMicroRNAs (miRNAs) are small conserved non-coding RNA molecules that post-transcriptionally regulate gene expression. Although it is reported in many studies that there are associations between alterations of miRNA homeostasis and pathological conditions such as cancer, psychiatric and neurological diseases, cardiovascular disease and autoimmune disease, the effects of common genetic variants of these genes on male infertility are unclear. To better understand this effect, we performed a case-control study including a total of 108 infertile men with idiopathic azoospermia and 125 fertile control subjects. Real-time polymerase chain reaction was used to genotype six single-nucleotide polymorphisms (SNPs) of microRNA biogenesis pathway genes and the associations between individual and combined genotypes and idiopathic azoospermia were analysed. The results showed significant difference between the individual AA genotype frequency of the GEMIN3 (rs197388) gene in the patient and control groups, indicating that the AA genotype may be considered as indicative of a higher predisposition to idiopathic azoospermia. The combined genotype analysis, including six SNPs, revealed statistically significant differences between the patients and control subjects for some combinations. For example, the frequency of genotype distributions of the AA\\CA-CC-TT-AT genotype combination for the XPO5-RAN-DICER1-GEMIN3 combined loci was significantly different, and it may be considered a predisposition to idiopathic azoospermia. According to the obtained results, both individual and combined genotypes of SNPs from miRNA genes may be used to predict the risk of male infertility with idiopathic azoospermia.
Highlights
Infertility is one of the most frequently diagnosed diseases in reproductive health [1,2,3,4]
We investigated the possible role of novel gene polymorphisms in male infertility
We observed that the follicle-stimulating hormone receptor (FSHR) haplotype was not associated with different serum follicle-stimulating hormone (FSH) levels but it was differently distributed in proven fathers and infertile men in south-east Turkey [2]
Summary
Infertility is one of the most frequently diagnosed diseases in reproductive health [1,2,3,4]. Infertility affects approximately 8%–12% of couples worldwide. Approximately 40%–50% is due to ‘male factor’ infertility and a significant proportion of male infertility is accompanied by idiopathic azoospermia [5]. Azoospermia, described as the absence of spermatozoa in semen, affects approximately 1% of all men. Azoospermia is classified as obstructive or non-obstructive; while obstructive azoospermia is the consequence of physical blockage in the genital tract, non-obstructive azoospermia is caused by spermatogenic failure [4]. In approximately 40% of all cases, the aetiology is still unknown; those cases are considered idiopathic azoospermia. Several risk factors for idiopathic azoospermia have been identified, such as chromosomal abnormalities and Y-chromosome microdeletions, the genetic mechanisms underlying spermatogenic failure and sperm dysfunction still remain unclear [3]
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