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Introduction: Infertility is one of the important phenomena in human reproduction. Genetic factors are the most important cause of male infertility. Here, we aimed to investigate the correlation between idiopathic male infertility and SNPs of the LHCGR (rs2293275) and NR5A1 (rs1057517779) genes in the Iranian-Azeri population., Methods: This case-control study consisted of 100 males with infertility and 100 healthy males from the Iranian Azeri population. Genomic DNA isolation from whole blood samples and Tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS-PCR) method was used for genotyping. The data analysis was performed by chi-square (χ2) and Fisher's exact tests., Results: Genotyping analysis for LHCGR (rs2293275) polymorphism indicated that the frequency of C in the case group was significantly higher than in the control group (P < .05). Moreover, genotyping analysis for NR5A1 (rs1057517779) polymorphism indicated that the frequencies of the A allele and heterozygote GA genotype in the case group were significantly higher than those in the control group (P < .05)., Conclusion: Our study demonstrated that the SNPs of LHCGR (rs2293275) and NR5A1 (rs1057517779) genes may play a critical role in male infertility in the Iranian Azeri population. However, further studies on other ethnic origins with larger sample sizes are essential for accessing more accurate results. Moreover, functional experiments might be needed to understand the role of these polymorphisms in the molecular pathways involved in male fertility., (Copyright © 2023 AEU. Published by Elsevier España, S.L.U. All rights reserved.)

Breast cancer is the first leading cause of cancer-related death in women. Xenobiotic-Metabolizing Enzymes (XMEs) contribute to the detoxification of numerous cancer therapy-induced products. In the metabolism of xenobiotics, cytochrome P450s or monooxygenases and Glutathione –s transferase (GSTs) perform an important function by catalyzing the hydroxylation reaction and conjugation of glutathione (GSH) to a wide variety of xenobiotics. Pesticides, which are excessively used in northern Iran, are one of the most-important risk factors for breast cancer incidence. They detoxify by phase I and II enzymes. The aim of this study was to evaluate the association of CYP1A1 (rs4646421), CYP1B1 (rs1056836), CYP2C8 (rs1058930), CYP19A1 (rs749292) and GSTP1 (rs 1695) polymorphisms and serum levels of pesticides (Diazinon and Malathion) with the risk of breast cancer in Mazandaran province. This cross-sectional case-control study included 72 patients and 51 healthy individuals who were recruited. It was performed between October 2017 to May 2018 in Oncology department at Imam Hospital in Sari City. Breast cancer patients with known clinicopathological characters and healthy women, as control, were genotyped for genes polymorphisms by PCR-RFLP and GC-MS method used for quantification of poisons. Chisquare test, Fisher exact test, and logistic regression model were applied for statistical analysis. The results of the experiments showed that there were significant relationships between two groups and the age of the patients was significantly higher than the control group (p = 0.044). Regarding the relationship between the genotypes of each gene and breast cancer risk, using a logistic regression model in two normalized and age-adjusted models, it was determined that in CYP2C8 genotype, those having the CG allele, increased the risk of breast cancer in adjusted model (CI=95%1.11,75.84). In the CYP19A1 gene of individuals with GA genotype, the risk of breast cancer increased in non-adjusted model (CI95%=1/52-27/21) about the CYP1B1 gene, people with two genotypes of CG + GG were associated with a higher risk of breast in non-adjusted and adjusted model (CI71/5 – 19/1 95% =) (CI=95% 1.31,6.57). In CYP2C8 gene, the G allele had a protective effect on breast cancer and decreased the risk of breast cancer (P = 0.02) and in GSTP1 gene, the Gallele increased the risk of breast cancer (P=0.0480). Moreover, in CYP1B1 gene, G allele decreased the risk of breast cancer (P=0.0271). Regarding the serum levels of OPs, Diazinon in the case group had a much lower level than the control group but (p<0.001) there was a significant relationship between serum levels of Diazinon and risk of breast cancer (p<0.001). The results of the current study confirmed the association between CYP2C8 (rs1058930), CYP19A1 (rs749292) and CYP1B1 (rs1056836) gene polymorphisms and increased the risk of breast cancer. Also, there was a significant relationship between serum levels of Diazinon and risk of breast cancer in women in Mazandaran province [ABSTRACT FROM AUTHOR]

Introduction and Objective: Genetic susceptibility has a key role in the pathogenesis of coronary artery disease (CAD). KLF5 and KLF7 are transcriptional factors essential to cell development and differentiation. Their genetic variants have been associated with the risk of metabolic disorders. The present study aimed to evaluate the possible correlation of KLF5 (rs3812852) and KLF7 (rs2302870) single nucleotide polymorphisms (SNPs) with the risk of CAD for the first time in the world., Methods: The clinical trial study comprised 150 patients with CAD and 150 control subjects without CAD from the Iranian population. After blood sampling, deoxyribonucleic acid was extracted and genotyped using the Tetra Primer ARMS-PCR method and confirmed by Sanger sequencing., Results: The KLF7 A/C genotypes and C allele frequency were meaningfully higher in the control group compared to the CAD+ group (p<0.05). No obvious association has been observed between KLF5 variants and CAD risk. However, the distribution of the AG genotype of KLF5 was statistically lower in CAD+ patients with diabetes than in CAD+ patients without diabetes (p<0.05)., Conclusion: This study identified KLF7 SNP as a causative gene contributing to CAD, which presents novel insight into the molecular pathogenesis of the disease. It is, however, unlikely that KLF5 SNP has an essential role in the risk of CAD in the studied population., (Copyright © 2023 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.)