Association of FSH receptor promoter’s polymorphisms with IVF-failure in Iranian women

Background: Follicle-Stimulating Hormone Receptor (FSHR) gene shows five Single Nucleotide Polymorphisms (SNPs) in the promoter region at positions -29, -37, - 114, -123 and -138 that have been reported to be associated with higher levels of FSH and various ovarian responses to FSH in IVF (In-vitro fertilization) treatment at different populations.  Hence, they are important regulators of hormone activity at the target level in IVF process. This study was performed to investigate the association between FSHR gene polymorphisms and IVF failure in Iranian women.Methods: SNPs in the promoter region of FSHR gene were analyzed by PCR and direct sequencing technique in 90 women in three equally sized groups of IVF failure, IVF success and normal fertile women, using genomic DNA extracted from white blood cells.Results: No significant differences were found in allelic variants frequency and genotype distribution between each category of subjects when analyzing the FSHR SNPs in the promoter region (p-value >0.05).   However, analysis of the data revealed that the subjects with A/A genotype at the –29 position received higher amount of exogenous FSH for ovulation induction compared to G/G genotypes.Conclusions: These results indicate that the FSHR SNP at position –29 may influence sensitivity of the FSHR to FSH for ovulation induction in IVF treatment.  It may be concluded that the A/A genotype at position –29 is associated with poor ovarian response to FSH so that subjects with A/A genotype at the –29 position may require higher doses of exogenous FSH for ovulation induction during IVF process

The frequency of human leukocyte antigen-DRB1 alleles, using sequence-based genotyping in 68 parents-child trios study in Iranian subjects

Background: The human leukocyte antigen-DRB1 (HLA-DRB1) locus is one of the most polymorphic human loci and has a crucial role in the immune system. Assessing the allelic frequencies of HLA-DRB1 locus would be a fundamental factor in defining the origin of populations, relationships with other populations, disease association studies and the constitution of unrelated bone marrow donor registries. In the current study HLA-DRB1 alleles and their frequencies are determined in a family-based study by DNA sequencing-based typing high-resolution (2 field) level of typing. Materials and Methods: Genomic DNA from 3 members of 68 unrelated families (a total of 204 individuals) was extracted. Exon 2 of DRB1 gene was amplified and performed useing AssignTM SBT v4.7 sequence analysis software.Results: We had DRB1*11:04 with frequency of 0.0931, DRB1*03:01 with 0.0882, DRB1*11:01 with 0.0735, DRB1*13:01 with 0.071 and also alleles DRB1*08:03, DRB1*13:42, DRB1*14:04 and DRB1*14:07 with frequency of 0.0024.Conclusion: A total of 34 different alleles were found in the study subjects with DRB1*11:04, DRB1*03:01, DRB1*11:01 being the most frequent alleles respectively.  

CircZNF609 and circNFIX as possible regulators of glioblastoma pathogenesis via miR-145-5p/EGFR axis

Abstract Glioblastoma is a rare and deadly malignancy with a low survival rate. Emerging evidence has shown that aberrantly expressed circular RNAs (circRNAs) play a critical role in the initiation and progression of GBM tumorigenesis. The oncogenic function of circZNF609 and circNFIX is involved in several types of cancer, but the role and underlying mechanism of these circRNAs in glioblastoma remain unclear. In this study, we hypothesized that circZNF609 and circNFIX may regulate EGFR through sponging miR-145-5p. Herein, we assessed the expression levels of circZNF609, circNFIX, miR-145-5p, and EGFR using quantitative polymerase chain reaction in glioblastoma patients and normal brain samples. The results showed that circZNF609, circNFIX, and EGFR expression levels were upregulated and miR145-5p was downregulated (p = 0.001, 0.06, 0.002, and 0.0065, respectively), while there was no significant association between clinicopathological features of the patients and the level of these genes expression. We also found a significant inverse correlation between miR145-5p and the expression of cZNF609, cNFIX and EGFR (p = 0.0003, 0.0006, and 0.009, respectively). These findings may open a new window for researchers to better understand the potential pathways involved in GBM pathogenesis. In conclusion, it may provide a new potential pathway for the development of effective drugs for the treatment of GBM patients