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OBJECTIVE: Almost half of infertility is related to male factors. Although the effect of genetic factors on male infertility is identified, about 30%-50% still has no proven cause and is classified as idiopathic infertility. This study was performed to investigate the correlation of some single nucleotide polymorphisms of PYGO2, DAZL, PRM1, and PRM2 genes with male infertility in idiopathic cases among the Iranian population. MATERIAL AND METHODS: In this case-control study, 120 idiopathic azoospermia or severe oligospermia patients in the range of 25-45 years and 120 fertile men in the same age range were recruited as case and control groups, respectively. Eight different single nucleotide polymorphisms including PRM1 rs737008, PRM1 rs423668, PRM2 rs1646022, PRM2 rs11645592, PYGO2 rs141722381, PYGO2rs61758741, DAZL rs75931701, and DAZL rs188506466 were genotyped by using ampli ficat ion-r efrac tory mutation system polymerase chain reaction methods. Hardy-Weinberg was calculated by using online website. Statistical Package for Social Sciences software was applied for statistical analysis. P value <.05 was considered significant. Thirty percent of the samples were regenotyped to confirm the obtained results. RESULTS: The obtained results showed a significant correlation between PYGO2 rs141722381 in the heterozygote form (odds ratio: 2.803, 95% CI: 1.397-5.626). Heterozygote over-dominance was also observed in this variant (odds ratio: 2.637, 95%CI: 1.321-5.264). There was no significant association between other studied single nucleotide polymorphisms and male infertility. CONCLUSION: This study proposed a novel single nucleotide polymorphism as a predisposition of male infertility among the Iranian population, but more studies in larger populations are needed to confirm the results.
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Background: Observational evidence on the association of novel single nucleotide polymorphisms (SNPs) of androgen receptor (AR) and estrogen receptor-α (ER- α ) genes with odds of male infertility are rare. This is particularly relevant in the Iranian population where male infertility is relatively high. Objective: This study was designed to investigate the relationship between different SNPs of these genes and male infertility among the Iranian population. Materials and Methods: The present project was a population-based, case-control study conducted on 120 idiopathic azoospermia or severe oligospermia infertile cases alongside 120 age-matched subjects enrolled as controls. Overall, 3 variants from the AR gene and 2 variants from ER- α were genotyped - ARrs137852568, ARrs137852599 and AR rs137852563, and ER- α rs796065354 and ER- α rs104893956- using amplification refractory mutation system methods. Results: The obtained results indicated a significant association between AR rs1378525568 TT genotype as well as AR rs137852599 C allele with odds of male infertility (OR: 0.433, CI: 0.197-0.951 and OR: 0.545, CI: 0.304-0.978, respectively). Other variants of AR were not related to male infertility. A significant association was noted between predisposition polymorphism ER- α rs796065354 genotypes with male infertility. This significant association was not seen between ER- α rs104893956 and the risk of idiopathic azoospermia or severe oligospermia. Heterozygote overdominance was also observed in ESR rs796065354 but not in the other variants studied. Conclusion: Pieces of evidence were found on the association of novel polymorphisms of AR and ER- α with male infertility among the Iranian population. However, larger studies are warranted to confirm our findings.Key words: Male infertility, Androgen receptor, Estrogen receptor- α .
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Background: Amenorrhoea is considered a kind of menstrual disorder in a woman of reproductive age. It is a symptom with many potential causes such as an abnormality in the hypothalamic-pituitary-ovarian axis, anatomical abnormalities of the genital tract or functional causes. Aims: In this study, we aimed to investigate chromosomal abnormalities in patients presenting with primary amenorrhoea. Study Setting and Design: This study was conducted in the medical genetic laboratory. Materials and Methods: Chromosomal analysis was carried out in 134 cases that were referred to the human genetic laboratory from 2010 to 2017, employing (GTG) Giemsa banding. Statistical Analysis: Statistical analyses were carried out by Microsoft Office Excel (2019). Results: The karyotype results revealed 77.6% (n = 104) with normal chromosome composition while 22.38% (n = 30) showed chromosomal abnormalities. Among the patients with abnormal chromosome constituents, 53.54% exhibited numerical aberration and 46.66% showed structural abnormalities. Conclusion: The present study has emphasised that karyotyping is one of the fundamental investigations in the evaluation of primary amenorrhoea.
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BACKGROUND: Observational studies that inspected the association of USP26, TEX15, and TNP2 novel single nucleotide polymorphism (SNP) with odds of male infertility are sparse. Male infertility prevalence in Iran is reported more than global prevalence, while about 30-50% of infertile male have no distinct reason yet and they are considered as idiopathic male infertility. This study was conducted to investigate association of different SNPs of USP26, TEX15, and TNP2 genes with male infertility among the Iranian population. MATERIALS AND METHODS: In this population-based case-control study, 120 diagnosed idiopathic azoospermia or severe oligospermia infertile cases range of 25-45 years old, and 120 age-matched fertile controls were recruited. Overall, six different variants from three genes were genotyped including USP26 rs61741870, USP26 rs144039408, TEX15 rs323344, TEX15 rs61732458, TNP2 rs11640138 and TNP2 rs199536093 by using amplification-refractory mutation system polymerase chain reaction (ARMS-PCR) methods. RESULTS: Although there was no significant association of USP26 gene variants (rs61741870 and rs144039408) with men infertility, we found a significant association of TEX15 rs323344 T allele and odds of idiopathic azoospermia compared to recessive allele (odds ratio [OR]: 0.259, confidence intervals [CI]: 0.083-0.811). We determined significant associations of TEX15 rs61732458 AC and CA+AA with male infertility compared to normal homozygote (OR: 3.776, CI: 2.049-6.957, OR: 3.818, CI: 2.077-7.016, respectively). Significant association was seen among TNP2 rs199536093 GG genotype and idiopathic azoospermia compared to normal homozygote (OR: 0.348, CI: 0.129- 0.939). We also observed heterozygote overdominance in TEX15 rs61732458 and TNP2 rs199536093. CONCLUSION: We found novel polymorphisms related to male infertility among Iranian population. However, larger studies are needed to confirm the obtained results.
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BACKGROUND: Infertility is a global health problem caused by various environmental and genetic factors. Male infertility accounts for 40-50% of all cases of infertility and approximately half of them are grouped as idiopathic with no definitive causes. Previous studies have suggested an association between some SNPs and infertility in men. In this study, an attempt was made to investigate the association of 7 different SNPs of 4 genes involved in common cell functions with male infertility. METHODS: MTHFR rs1801131 (T>G), MTHFR rs2274976 (G>A), FASLG rs80358238 (A>G), FASLG rs12079514 (A>C), GSTM1 rs1192077068 (G>A), BRCA2 rs4987117 (C>T), and BRCA2 rs11571833 (A>T) were genotyped in 120 infertile men with idiopathic azoospermia or severe oligospermia and 120 proven fertile controls using ARMS-PCR methods. Next, 30% of SNPs were regenotyped to confirm the results. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using SPSS statistical software to evaluate the strength of association. The p<0.05 were considered statistically significant. RESULTS: Statistical analysis revealed significant association between MTHFR rs-2274976 AA variant (OR: 10.00, CI: 3.203-31.225), FASLG rs12079514 AC variant (OR: 0.412, CI: 0.212-0.800), and BRCA2 rs11571833 TT variant OR: 6.233, CI: 3.211-12.101) with male infertility, but there was no significant difference between case and control groups in MTHFR rs1801131 (p= 0.111), GSTM1 rs1192077068 (p=0.272), BRCA2 rs4987117 (p=0.221), and FASLG rs80358238 (p=0.161). CONCLUSION: Our findings suggested that some novel polymorphisms including MTHFR rs2274976, FASLG rs12079514, and BRCA2 rs11571833 might be the possible predisposing risk factors for male infertility in cases with idiopathic azoospermia.
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OBJECTIVES: Mesenchymal stem cells (MSCs) are adult stem cells which identified by adherence to plastic, expression of cell surface markers including CD44, CD90, CD105, CD106, CD166, and Stro-1, lack of the expression of hematopoietic markers, no immunogenic effect and replacement of damaged tissues. These properties led to development of progressive methods to isolation and characterization of MSCs from various sources for therapeutic applications in regenerative medicine. METHODS: We isolated MSC-like cells from testis biopsies, ovary, hair follicle and umbilical cord Wharton's jelly and investigated the expression of specific cell surface antigens using flow cytometry in order to verify stemness properties of these cells. RESULTS: All four cell types adhered to plastic culture flask a few days after primary culture. All our cells positively expressed common MSC- specific cell surface markers. Moreover, our results revealed the expression of CD19and CD45 antigens in these cells. CONCLUSION: According to our results, high expression of CD44 in spermatogonial stem cells (SSCs), hair follicle stem cells (HFSCs),granulosa cells (GCs)and Wharton's jelly- MSCs (WJ-MSCs)may help them to maintain stemness properties. Furthermore, we suggest that CD105+SSCs, HFSCs and WJ-MSCs revealed the osteogenic potential of these cells. Moreover, high expression of CD90 in SSCs and HFSCs may associate to higher growth and differentiation potential of these cells. Further, the presence of CD19 on SSCs and GCs may help them to efficiency in response to trans-membrane signals. Thus, these four types of MSCs may be useful in clinical applications and cell therapy.
