farzam ajamian

after heart diseases and accidents, cancer is considered the third cause of death in Iran (1), and is a major health problem not only in Iran but also in many developed and developing countries. (2). Breast cancer is a disease in which breast cells grow out of control. This disease has different types based on the type of breast cells that become cancerous. Breast cancer accounts for about one-third of all types of cancer in the female population and is the main cause of cancer-related deaths in women worldwide (3). Estrogen receptor-α is one of the isoforms of estrogen receptor encoded by the ESR1 gene. ESR-α is a nuclear receptor that acts as a ligand-dependent transcription factor (4). After binding of estrogen, ESR-α binds to the estrogen response regions in the promoter of the target genes and causes changes in the expression of the target genes (5). The present study investigates the expression level of the estrogen receptor gene (ESR1) and long non-coding RNAs (lncRNAs) related to It investigates the allele frequency and genotype of single nucleotide polymorphism (SNP) rs2234693 in ESR1 gene in patients with breast cancer.

In this case-control study, the expression of ESR1 and related coding and non-coding RNAs were investigated by microarray (17 control samples and 104 patient samples), TCGA RNAseq (on 113 normal samples, 1102 primary tumors and seven Metastatic tumor samples) and data analysis was done by R Studio and limma, and ENCORI and GEPIA2 databases. Evaluation of microRNA interaction was done by miRWalk and lncRNA interaction finding was done by lncBase 3. Protein-protein interaction was analyzed by STRING and survival and correlation analysis by GEPIA2 and ENCORI. Pathway enrichment and gene ontology (GO) analyses were performed by KEGG and Enrichr and SNP analysis was performed by RFLP test.

ESR1 gene expression was increased in breast cancer and miR-15a-3p gene had a significant interaction with ESR1 and lncRNA OIP5-AS1. OIP5-AS1 and ESR1 had significant positive expression in patient samples. The frequency of TC, TT, and CC genotypes in healthy people was 65%, 15%, and 20%, respectively, and in the patient group it was 38.5%, 38.5% and 23%. There was a significant difference in the prevalence of ESR1 gene genotypes between patients and controls.

ESR1 polymorphism may be associated with an increased risk of breast cancer and rs2234693 T>C SNP can be considered a strong marker for breast cancer screening. OIP5-AS1 may regulate breast cancer progression by altering ESR1 expression regulation.

Congenital hypothyroidism is one of the most common endocrine diseases that occur as a result of the inactivity of the thyroid gland and, can lead to impaired mental and physical development. The thyroid hormone is essential for the normal development of the nervous system. The aim of this study was to investigate the relationship between FOXE1 and PDE8B polymorphism in patients with congenital hypothyroidism. FOXE1 and PDE8B polymorphism were analyzed in 100 blood samples as control and case groups via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and AS-PCR. Blood samples were taken from healthy people and patients, which included 50 patients and 50 control samples. The results of genotype comparison in this study showed no statistical difference between case and control samples. The following studies confirm that according to calculation of OR (OR >1) and CI (the least CI 95% was less than one), there was no significant correlation between the two groups of healthy subjects and patients for rs4704397 polymorphism in PDE8B and rs1867277 polymorphism in FOXE1 with the incidence of congenital hypothyroidism in the population. This study shows that rs1867277 polymorphism of FOXE1 and rs4704397 of PDE8B were not associated with congenital hypothyroidism and are not endorsed as a risk factor for the disease.

Alzheimer’s Disease (AD) is the most common type of dementia. The role of genetic factors in AD development remains non-demonstrated.

In this study, we aimed to investigate the association between one of the BIN1 gene’s single-nucleotide polymorphisms (SNP) rs744373 and Late-Onset Alzheimer’s Disease (LOAD) in an Iranian population in Guilan Province.

In this case-control study, 110 patients with LOAD and 110 unrelated healthy controls were recruited. Polymerase chain reaction-restriction length polymorphism (PCRRFLP) was performed for genotyping the BIN1 gene’s SNP rs744373. Electrophoresis was thereafter conducted using agarose gel and DNA-safe stain, and the gels were visualized under an Ultraviolet (UV) trans-illuminator. The allelic and genotypic frequencies were determined.

The frequency of allele T (Wild-type allele) in the control and the LOAD groups was 70.9% (n=159) and 58.6% (n=129), respectively (P=0.007). The frequency of allele C in the LOAD group (41.4%) (n=91) was significantly higher than that of the control group (29.1%) (n=64) (P=0.007). BIN’s homozygous genotype (CC) frequency was significantly higher in the LOAD group than in the control group (P=0.043).

The rs744373 SNP of the BIN1 gene is significantly associated with the risk of developing AD in the studied population.

Histone deacetylation plays an essential role in transcriptional regulation of cell cycle progression and other evolutionary processes. Several results confirm the importance of the latest found HDAC11 gene to deacetylate histone core in neurons and their supportive cells in developing the vertebrate Central Nervous System (CNS). 

This study investigates the HDAC11 potential role in early chicken CNS development by studying its mRNA expression profile which may have unique means in studying human subjects. 

Chicken HDAC11 RNAs were reverse transcribed to cDNAs, and the amount of chHDAC11 transcripts was measured by ΔCT mean calculation using the real-time quantitative PCR method. One-way ANOVA and Duncan’s analysis (SigmaStat software version 4.0) were used to test the statistical significance of the results. The levels of significance were set at P≤0.05. Quantitative data are presented as Mean±SD.

The amount of HDAC11 mRNAs gradually increases, at least 2-3 times, from as early as day 14 (E14/HH40) of prenatal cortex formation to day P0 (E20=HH45) and continue to increase to day 40 in both cortical and hippocampal regions of the postnatal chicken brain during development (*P≤0.05). HDAC11 mRNA is not only expressed in the postnatal cortex and hippocampi regions but also—for the first time—in the developing brain during the prenatal period.

Our results show a possibly important role for the latest found HDAC11 conserved gene in the development of vertebrates’ embryonic brain, which in turn may have a significant impact on understanding human brain development.

Chromatin Epigenetic changes have a key role in pathophysiology of prostate cancer. The most important epigenetic changes are change in DNA methylation, histones modifications, changes in chromatin status and micro RNAs regulatory patterns which are related to tumor creation. Histone deacetylases (HDACs) comprise a large family of enzymes which act as key regulators of nucleosomal histone consistency. HDACs have a great role to start and develop prostate cancer which is due to changes they create. Epigenetic modifications, in particular DNA hypermethylation and histone acetylation have an essential role in the regulation of genes that protect against prostate cancer. Since epigenetic changes are reversible, they are interesting targets for cancer therapy. Many epi-drugs such as histone deacetylase inhibitors (HDACi) show anti-cancer properties in either cell culture or in the animal models of prostate cancer.
In this case-control study, RNA extraction was performed on samples then the expression of HDAC1 in human prostate cancer using reverse-transcription polymerase chain reaction (RT-PCR). This study was conducted comparing 20 patients diagnosed with prostate cancer to 20 disease free control subjects.
Findings: Our findings suggest that the expression of HDAC1 mRNA is tangible and a significant difference was observed between patients and control subjects.
Discussion & These results imply that HDAC1 mRNA expression could have potential as a marker and may have prognostic implications for Prostate cancer progression.

Oxidative stress is a condition in which the balance is disrupted between reactive oxygen species (ROS) and antioxidant. Glutathione peroxidase 1(GPX-1), as one of the antioxidant enzyme remove the ROS in a continuous process. One of the functional polymorphism of GPX1 gene is Pro198Leu polymorphism. The aim of this study was to study the association between GPX-1 Pro198Leu polymorphism with the risk of colorectal cancer.
in this case-control study, 130 patients with colorectal cancer were compared with 170 healthy subjects. Genomic DNA was extracted from peripheral blood leukocytes. Determination of DNA genotyping in GPX-1 Pro198Leu polymorphism were performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The χ2-test was used for statistical analyses.
The GPX1 genotype frequencies were 64% for CC, 24% for CT and 12% for TT in control group, and 60% for CC, 30% for CT and 12% for TT among the patients. The C allele frequency in cases and controls including 0.75 and 0.76 and T allele frequency was including 0.25 and 0.24. Based on these data, there was no significant differences in the GPX1 Pro198Leu genotypes and allele frequencies between cases and controls (P=0.2).
The result of this study suggested that GPX-1 Pro198Leu polymorphism could not be a risk factor for colorectal cancer. However, studies in larger populations are needed in order to confirm the results.

Recurrent miscarriage (RM) occurs in 1–3% of couples attempting to bear children. Thrombophilia is one of the suspected causes of recurrent miscarriage. The factor XIII makes the clot stable at the end of coagulation cascade. The polymorphism G103T of factor XIII gene is the most common polymorphism that affects F XIII activity. We aimed to study the possible association of FXIII gene polymorphism (V34L) with recurrent miscarriage among patients in Northwest of Iran.
The study groups consisted of 70 patients with two or more consecutive miscarriages. The control group included 50 women with at least two successful deliveries and no history of pregnancy loss. DNA from both groups analyzed for carrying mutation of FXIII by PCR-RFLP. The test used for statistical analyze.
Two patients (%2.85) in the case group were homozygote (TT) for 34 Leu mutation whereas no homozygote (TT) was found in control group (p>0.05). 19 patients (%27.1) in the case group and 13 women (%26) in the control group were found to be heterozygote for G103T polymorphism (p>0.05). No significant difference was observed between patients with RPL and healthy women for G103T mutation.
No statistically difference was observed between case and control group.

The major issue to address in obesity etiology is to identify the genetic changes in the disease and their occurrence in different populations. Uncovering these genetic changes may be important in developing potential biomarkers for early diagnosis and prognosis of obesity. Among all obesity susceptibility genes studied before, convincing association has been found with variants in the FABP2 gene and this disease; however, the contributions of these genetic variants in different populations and ethnic groups are not similar. Accordingly, this study was carried out to replicate the previous findings to assess whether a missense variation (rs1799883) in this gene is associated with obesity in the Tehran Lipid and Glucose Study (TLGS) population.
A case–control study was designed to determine the possible association between rs1799883 and occurrence of obesity “in phase IV of the study between the years of 2008 to 2011”. The study group consisted of 217 subjects with body mass index (BMI, kg/m2) greater than 30 as cases and 159 healthy individual as control group (1820). All subjects were recruited among the Tehran Lipid and Glucose Study (TLGS) participants in phase IV of the study between the years of 2008 to 2011. The genomic DNA was extracted from peripheral blood leucocytes using the salting out method and subsequently subjects were genotyped for this marker using The tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Association of risk allele with obesity was assessed using the SPSS software, version 20 (Chicago, IL, USA).
The results showed no significant differences between case and control groups in terms of allele frequency (P=0.61). According to the findings, the presence of T allele as the risk allele was not associated with increased risk of obesity in carriers of this allele compared to individuals carrying the normal allele (OR=1.17; CI%95= 0.62-2.19, P=0.61).
The results did not support the previous findings of an association between genetic polymorphism in the FABP2 gene and risk of obesity. However, a number of replicated studies with other ethnicity are suggested to make a conclusion about the role of this genetic polymorphisms and susceptibility to obesity in Iranian population.

Annexin A1 (ANX I) is an inducible protein and acts through inhibiting cPLA2a to block the release of arachidonic acid and its subsequent conversion to eicosanoids. It reduces the activity of iNOS and COX-2 enzymes. Therefore, this protein may be effective in prevention of cell inflammatory conditions. Thus to elucidate the protective effects of ANX І in neuroinflammtory disorders, we decided to construct its coding sequence (CDS) in an appropriate vector to examine its overexpression effects in neuroinflammatory conditions in a neural progenitor cell. Hence, at first step, RNA was extracted form fresh blood sample taken from a healthy individual donor. cDNA was synthesized and RT-PCR was performed with suitable primers for human ANX I. In the second step, The amplified fragment was subsequently used again for PCR, to introduce AgeI Cleavage site and FLAG upstream and downstream of ANX I CDS, respectively. CDNA fragment encoding ANX I-Flag was inserted into the pTZ (T)-Vector. The recombinant plasmid was sequenced to ensure proper cloning of ANX I CDS. Finally, DNA fragment encoding ANX I-Flag was inserted into the PGL268, an appropriate eukaryotic expression vector, which is an episomal vector containing S/MAR sequences to retain this vector at episomal state. Chimeric cDNA encoding ANX I-Flag was appropriately inserted in an expression vector to examine its further applications in neural precursor cells. Due to the presence of S/MAR sequences in the plasmid, the overexpression of ANX I would be in episomal state.

Infertility can be caused by an unexplained reduction in semen quality in males who present as normal on physical examination and endocrine testing. There is some evidence that aberrant metabolism of micronutrients such as choline may play a causative role in male factor infertility. Choline is a crucial factor in the regulation of sperm membrane structure and motility, and this nutrient plays an important role in the maturing and fertilizing capacity of spermatozoa. In the present study, we explored the contribution of the choline dehydrogenase gene polymorphism located in the codon 78 (CHDH +432G>T), one of the basic enzymes of choline metabolism, to idiopathic male infertility. In this study, 50 infertile men and 50 fertile men of the Guilan population were selected. Genomic DNA was extracted from peripheral blood. Genotypes were determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Statistical analysis was performed using MedCalc software (v12.1.4.0). A significant difference was observed between patients and healthy subjects in the distribution of G and T alleles. The prevalence of genotype frequencies of CHDH +432 GG, GT, and TT were 28%, 50%, and 22%, respectively, in patients, while in healthy subjects they were 52%, 36%, and 12%, respectively. In other words, there was a significant difference in the genotype distribution of CHDH +432G>T in patients compared with controls (Ρ<0.05). This finding suggests a possible influence of this gene polymorphism on idiopathic male infertility.