ABSTRACT
BACKGROUND: Teratoasthenozoospermia (TA) is a severe form of male infertility with no clear etiology. OBJECTIVE: To compare the level of intracellular anion superoxide (O2-), heat shock protein A2 (HSPA2) and protamine deficiencies in ejaculated spermatozoa between teratoasthenozoospermic and normozoospermic men. MATERIALS AND METHODS: In this case- control study, semen samples of 20 infertile men, with TA (with normal morphology lower than 4%_ and total motility lower than 40% ) as the case group and 20 normozoospermic fertile men as the control group were evaluated for intracellular O2- and HSPA2 by flow cytometry and protamine deficiency by Chromomycin A3 (CMA3) test. RESULTS: The rate of CMA3+ spermatozoa in the case group was higher than controls (p=0.001). The percentages of HSPA2+ spermatozoa in the cases were significantly lower than controls (p=0.001). Also, intracellular O2- levels in the case group were significantly higher than controls (p=0.001) and had positive correlations with sperm apoptosis (r=0.79, p=0.01) and CMA3 positive sperm (r=0.76, p=0.01), but negative correlations with normal morphology (r=-0.81, p=0.01) and motility (r=-0.81, p=0.01). There was no significant correlation between intracellular O2- and HSPA2 in the case group (r=0.041, p=0.79). CONCLUSION: We suggest that the increase in intracellular O2-, decrease in spermatozoa HSPA2+, and high percentages of spermatozoa with immature chromatin might be considered as etiologies of infertility in TA patients.
ABSTRACT
Background: To date, only a few studies have investigated associations between ERCC2, NBN, and RAD51 variants and risk of developing osteosarcoma. In this systematic review and meta-analysis, we focused on clarifying links. Materials and Methods: We systematically searched PubMed, Google Scholar, and ISI web of knowledge databases to identify relevant studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to calculate the strength of associations with fixed effect models. Results: No statistical evidence of association was found between ERCC2 rs13181 (G vs. T: OR= 1.224, 95% CI: 0.970-1.545, p= 0.088; GT vs. TT: OR= 1.135, 95% CI: 0.830-1.552, p= 0.428; GG vs. TT: OR= 1.247, 95% CI: 0.738-2.108, p= 0.409; GG+GT vs. TT: OR= 1.174, 95% CI: 0.929-1.484, p= 0.179; GG vs. GT+TT: OR= 1.476, 95% CI: 0.886-2.460, p= 0.135), ERCC2 rs1799793 (GA+AA vs. GG: OR= 1.279, 95% CI: 0.912-1.793, p= 0.154), NBN rs709816 (OR= 1.047, 95% CI: 0.763-1.437, p= 0.775), NBN rs1805794 (OR= 1.126, 95% CI: 0.789-1.608, p= 0.513), RAD51 rs1801320 (OR= 0.977, 95% CI: 0.675-1.416, p= 0.904), RAD51 rs1801321 (TT+GT vs. GG: OR= 1.167, 95% CI: 0.848-1.604, p= 0.343), RAD51 rs12593359 (GG+GT vs. TT: OR= 0.761, 95% CI: 0.759-1.470, p= 0.744) polymorphisms and osteosarcomas. The lack of the original data limited our further evaluation of the adjusted ORs concerning age and gender; however, the previous individual studies results indicated the age- and gender-specific effects of two ERCC2 rs1799793 and NBN rs1805794 variants on osteosarcoma risk. Conclusion: The results suggested a lack of association between the ERCC2 (rs13181 and rs1799793), NBN (rs709816 and rs1805794), and RAD51 (rs1801320, rs1801321, and rs12593359) variants with osteosarcoma risk. Further comprehensive and well-designed studies are required to assess the role for ERCC2, NBN, RAD51 variants in osteosarcoma development more adequately.
ABSTRACT
BACKGROUND: BRCA1/2 genes mutation prevalence varies among ethnic groups and may be influenced by founder mutations. Understanding BRCA1/2 genes mutations is important for reducing breast cancer (BC) incidence, accurate risk assessment and counseling. This systematic review of the literature was conducted to addressing BRCA1/2 mutations in Iranian BC patients. MATERIALS AND METHODS: A search for relevant articles was run on before January 2014 using MedLine, PubMed, Science Iranian Database, Google, and Web sites related to the study topic. The key words included: BC and Iran with Genes, BRCA Genes, BRCA1 and BRCA2; "Cancer Genes," and "Iran." RESULTS: Thirteen articles retrieved from this search strategy were eligible for this review. The overall BRCA1 mutation rate for Iranian female BC patients was detected 31.8% (377/1183). Although this gene mutation rate for male patients is <0.01%. Eight BRCA1 mutations (c. 4837A > G, c. 3419G > A, c. 3119G > A, c. 2612C > T, c. 3113A > G, c. 2311T > C, c. 4301T > C and c. 4308T > C in BRCA1, and one BRCA2 mutation (c. 6494G > C) were found in multiple case subjects and represent candidate founder mutations. CONCLUSION: According to these studies, there is heterogeneity in BRCA mutations in Iranian BC patients.
