pegah ghandil

Cytogenetics and association studies showed that folate gene polymorphisms can increase the risk of chromosomal nondisjunction and aneuploidies. The folate-metabolizing gene polymorphisms in Down syndrome mothers (DSM) have been assessed in a variety of populations. Reduced folate carrier 1 (RFC1) and cystathionine beta-synthase (CBS) are key enzymes in folate metabolism.

2 common polymorphisms, CBS 844ins68 and RFC1 A80G, were analyzed to determine their probable risk for having Down syndrome (DS) babies in young mothers of Khuzestan province, Iran.

This study was conducted on 100 mothers who had trisomy 21 DS children. 100 age- and ethnic-matched mothers with at least 2 healthy children and no history of abnormal pregnancies were considered as control. The samples were collected from all the mothers from June 2019 to April 2021. Genomic DNA was extracted from peripheral blood. The CBS-844ins68 and RFC1-A80G were genotyped using polymerase chain reaction-electrophoresis and restriction fragment length polymorphism, respectively.

The frequency of RFC1 AG and GG genotypes in DSM was significantly higher than the control mothers (odds ratio [OR] of 2.38 and 3.07, respectively). The heterozygote genotype of CBS 844ins68 was significantly more prevalent among DSM than the control (OR: 2.419). The OR was significantly increased to 6.667 when the homozygote of both variants was found together.

Studying polymorphisms possibly increases the susceptibility of having a DS child. However, ethnicity, nutrition, and epistatic interactions are considerable factors to be evaluated in future studies.

Down syndrome (DS) is a complex genetic disease that is caused by having three copies of chromosome 21. A possible association between polymorphisms in maternal folate metabolism genes and DS has been evaluated.

It was aimed to first investigate the influence of C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR) and plasma homocysteine (Hcy) on the maternal risk for DS in the southwest of Iran.

The MTHFR C677T and A1298C polymorphisms were genotyped using restriction fragment length polymorphism and Sanger sequencing, respectively. Allele and genotype frequencies and the dominant model of the MTHFR C677T and A1298C polymorphisms were evaluated in 80 mothers of children with DS and 80 control mothers. Eventually, the ELISA test was used to compare the concentration of plasma Hcy in both groups.

A significant association was observed in the 677T and 1298C alleles between the mothers of DS and control groups (P = 0.00077 and P = 0.01248, respectively). Further, the median concentrations of Hcy were significantly higher in mothers with DS babies compared to the control group (P < 0.05).

There was an association between MTHFR C677T, A1298C, and plasma Hcy concentrations as the maternal risk of mothers with DS children.

Inflammatory bowel disease (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), is a complex multifactorial disease for which the exact cause is not clear. In this study, the researcher aimed to evaluate interleukin 23 receptor (IL23R) gene polymorphisms in patients with inflammatory bowel disease.

In this case-control study, we evaluated 125 patients of the Iranian population (Khuzestan) with IBD, including 35 patients with CD, 90 patients with UC, and 125 healthy controls. The polymorphisms of C/A-97952 (rs10889677), and G/A-43045 (rs1004819) were genotyped, using ARMS-PCR and G/A-78790 (rs11209026) using RFLP-PCR methods in the studied population. The collected data were analyzed using SPSS software.

In this study, no significant association was observed between IL23R polymorphisms and IBD in this population, however the association between C/A-97952 AA genotype and penetrate to the tissue (P=0.048 OR=2.812 (1.23-6.44)), G/A-43045, AA genotype, and Ileocolic (P=0.031 OR=5 (1.071-31)). and G/A-43045 AA genotype and Pan Colitis (P=0.028 OR=4 (1.082-17.00)) in IBD were strengthened and emphasized.

The present study showed that there were no associations between IL23R polymorphisms, CD, and UC in the Khuzestan population. In addition, we found that C/A-97952 and G/A-43045 gene polymorphisms in IL-23R are related to special phenotypes. Further functional analysis with a larger sample size and other known IL-23 receptor genotypes is necessary to confirm our population's association with UC and CD.

Premature ovarian failure is a heterogeneous disorder, leading to early menopause. Several genes have been identified as the cause of non-syndromic premature ovarian failure (POF). Our aim was to explore the genetic defects in Iranian patients with POF.

We studied a family with three females exhibiting non-syndromic POF. WES was performed for one of the affected individuals after ruling out the presence of CGG repeat expansion at fragile X mental retardation 1 gene in the family. Sanger sequencing was used to confirm the candidate sequence variants in the proband, and screening of the detected mutation was performed for the other affected and unaffected members of the family.

A homozygous frameshift mutation, c.349delC, was identified in ficolin-3 (FCN3) gene in the proband and two other patients. The parents and two healthy brothers were heterozygous for the mutation, and an unaffected sister was homozygous for wild type.

This is the first report of a mutation in FCN3 gene in a family with POF. Our findings can lead to the enhancement of genetic databases of patients with POF, specifically for families with high-risk background.

Asthma is a complicated chronic inflammatory disease associated with pulmonary inflammation, severe immune responses of the respiratory tract, and change or destruction in the respiratory tract structure. Several factors, especially genetic and environmental factors, contribute to the pathogenesis of asthma. Interlukin (IL)-13 is considered the most important inflammatory mediator of asthma that play an effective role in the different stages of B cell maturation and differentiation. It also increases the expression of major histocompatibility complex II and CD23 and is effective in IgE isotypes switching. Single nucleotide polymorphisms (SNPs) cause the wide genetic diversity in the genome, and SNP analysis helps evaluate and diagnose disease-related genes. The present study was conducted to investigate the association of -1112C / T and + 2044 G /A polymorphisms in the IL-13 gene with asthma.

Blood samples (5 ml) from asthma patients (167) and controls (172) after spirometry test were collected into tubes, and then DNA was extracted to determine the genotype of asthma patients. Real-time polymerase chain reaction was performed by the Taq Man method, and the results were analyzed using SPSS software version 22.

There was a significant difference between the genotype of IL-13 -1112C / T polymorphism in the patient group and the control group (p = 0.028). The IL13 + 2044G / A polymorphism results showed no significant difference between the two groups (p = 0.319).

The present study showed that IL-13 -1112C / T polymorphism positively correlates with the induction of asthma, but there was no significant association between the polymorphism + 2044G / A IL-13 and the risk of asthma.

Clopidogrel is a platelet inhibitor drug widely used in patients undergoing percutaneous coronary intervention (PCI) for the prevention of stent thrombosis. Genetic variation within CYP2C19 gene causes variable clopidogrel response. The FDA has recommended CYP2C19 genotyping in the patients taking clopidogrel, especially in the population with high prevalence rates of CYP2C19 *2 and *3 alleles.

The aim of this study was to determine the prevalence of CYP2C19 gene polymorphisms in the population received Drug-Eluting Stents following PCI in the southwest of Iran.

This cross-sectional study was conducted on 102 patients undergoing PCI. Demographic characteristics and risk factors of patients were collected using a questionnaire and CYP2C19 genotyping was carried out by PCR-RFLP. Then CYP2C19 allele and genotype frequencies were determined and analyzed using χ2 test.

Data analysis showed that the frequencies of CYP2C19*1, CYP2C19*2, and CYP2C19*3 allele were 79.4%, 15.2%, and 5.4%, respectively. The frequency of CYP2C19*1/*1 genotype was 60.8%. Moreover, CYP2C19*1/*2, CYP2C19*1/*3, CYP2C19*2/*3 heterozygote genotypes were shown in 28.4%, 8.8%, and 2.0% of the subjects, respectively. None of the patients had CYP2C19*2/*2 or CYP2C19*3/*3 genotypes.

The results of this study showed a high prevalence of CYP2C19*2 polymorphism in the population lived in the southwest of Iran. The frequency of CYP2C19*1/*2 genotype is compatible with the majority of the Iranian population and more similar to Caucasian populations.

The aim of the present study was to evaluate the effect of natural antioxidant formula (blend of herbs: ginger root, cinnamon bark and raw almond fruit powder, rosemary leaf powder, and honey) on oxidative status, antioxidant enzyme activity, and relative heat shock protein (HSP‑70) expression in recreational female athletes. Eighteen female participants trained for 4 weeks and randomly received either antioxidant formula (FormEX) (n = 8) or placebo (PlcEX) (n = 10) in a randomized controlled trial. Blood samples were obtained 1‑h before, 1 h and 24 h postexercise to measure malondialdehyde (MDA), total antioxidant capacity (TAC), superoxide dismutase (SOD), glutathione peroxidases (GPx), and HSP70 mRNA expression. Data analysis was performed using 2 (treatment = grouping factor) ×6 (time = within‑factor) repeated measurements analysis of variance or generalized estimating equations (GEE) test. We used the independent t‑test to evaluate any significant differences for real‑time polymerase chain reaction data. Antioxidant formula increased the relative HSP‑70 mRNA expression more than Plc‑EX group in all time points (P = 0.001). The time main effect was significant with regard to TAC and SOD concentrations (P = 0.001 and 0.002, respectively). However, there were no statistically significant differences between groups for TAC, SOD, and MDA (P = 0.25, 0.06, and 0.38, respectively). Neither the time main effect for MDA nor time and intervention interaction was not statistically significant for MDA, TAC, and SOD (P = 0.19, 0.13, and 0.10, respectively). GEE results for GPx showed that there were no significant differences between the groups (P = 0.11). The results presented herein revealed that natural antioxidant rich formula had variable effects on oxidative status. However, in contrast to many antioxidant supplements, this formulation increases the HSP‑70 mRNA expression which might improve the antioxidant ability of cells in the long‑term period and exercise‑induced adaptation.

The role of FTO-rs9939609 gene variants in response to the Epigallocatechin-Gallate (EGCG) intervention remains unclear. The present study aimed at investigating the gene-treatment interaction of FTO‐rs9939609 gene polymorphism and EGCG intervention on anthropometric indexes, fasting blood sugar, and insulin resistance/sensitivity in patients with Type 2 Diabetes Mellitus (T2DM). This double-blind, randomized, placebo-controlled study was conducted on 66 patients (aged 20 to 60 years) with T2DM in Iran, from August 2017 to March 2018. Individuals were randomly block allocated to three groups. Group 1 received 300 mg EGCG (n = 22, TT genotype), Group 2 received 300 mg EGCG (n = 22, AA + AT genotypes), Group 3 received the placebo (n = 22). Two months following the intervention, Waist-Hip Ratio (WHR), A Body Shape Index (ABSI), Fasting Blood Sugar (FBS), and insulin levels, as well as Homeostasis Model Assessment-Insulin Resistance (HOMA-IR) and Quantitative Insulin Sensitivity Check Index (QUICKI) were evaluated. The FTO‐rs9939609 polymorphism was genotyped by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). In both EGCG groups, a significant reduction in WHR was observed after the intervention compared with baseline (P < 0.05), with no significant differences in other parameters. The FTO‐rs9939609 polymorphism showed no gene-treatment interaction in response to EGCG. This study suggests that administration of EGCG supplement for two months may provide anti-obesity effects in patients with T2DM. However, the FTO-rs9939609 polymorphism was not associated with the change in anthropometric and glycemic status after EGCG intervention.

New combinations of drugs are used for asthma control, which aim to achieve lack of symptoms and increase pulmonary function with the least amount of drug administration. In this study, the clinical recovery of pulmonary function in asthmatic patients before and after two weeks of treatment with a combination of fomoterol and budesonide compared. Subjects and

This study was carried out on 58 newly diagnosed moderate and severe asthmatic patients referred to Ahvaz Imam Hospital during the first six months of the 2012. Physical examination and FVC, FEV1 and PEF variables were assessed using spirometry. After two weeks treatment with a combination of fomoterol (320µg) and budesonide (9µg) turbohaler the patients were re-evaluated. SPSS analysis software and ANOVA (t-test) methods were used for data analysis.

The mean FEV1 before treatment was 2.92±1.2 which increased to 3.1±0.78 after treatment ((P<0.05). The FVC before treatment was 3.51±1.4 also increased significantly after treatment 3.87± 0.98 (P<0.05). On the other hand, PEF percentage for pretreatment was 1.8 ± 4.50 %, which significantly increased to 4.98±0.6% after treatment (P <0.05).

The use of the combination of formetrol plus budesonide for the treatment of moderate and severe asthma was found to be useful in clinical and can achieve satisfactory control of moderate and severe asthma.

Asthma is a chronic respiratory disease that is associated with Reversible airway obstruction. The purpose of this study was to determine the clinical findings associated with asthma severity and determine the concentration of total IgEin patients with Arab ethnicity and Bakhtiari. Subjects and In this survey, 200 patients with asthma patients with Bakhtiari and Arabs ethnicities living in Khuzestan province which were referred to the pulmonary clinic in 2014 in Ahvaz city were studied. Patient data were collected through questionnaires and spirometry was performed and the total IgElevel in patients' serum were tested by ELISA. All data were analyzed with SPSS. In this descriptive study, In Arab ethnicity, 16% had severe asthma, 13%, 15.5% mild asthma and 10.5% had controlled asthma. In Bakhtiaries, 5.9% had severe asthma, 7% moderate asthma, 14% mild asthma and 14.5% had controlled asthma. In total, 33% of the patients were passive smokers by their family members and 69.5% had a BMI greater than 25. Based on the measurement of the total serum IgE 60.1% were atopic asthma and 39.9% non-atopic. Totally, 39.5% of the patients had a family history of asthma. In our study in Khuzestan province, asthma severity was significantly associated with ethnicity and BMI levels (P= 0.012 and 0.009, respectively), but no significant relationship were observed for the IgE, age and sex of patients and tobacco with asthma severity (P=0.58, 0.15, 0.27 and 0.17, respectively).