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Showing 6 results for Polymorphism
Lipid Profile and Leptin Levels in Patients with Metabolic Syndrome
R Esmaeili, T Hassanzadeh,
Volume 8, Issue 3 (8-2014)
Abstract
Abstract Background and Objective: Metabolic syndrome called a cluster of several metabolic disorders is associated with increased risk of cardiovascular diseases. Genetic differences in leptin receptor gene are related with the concentration and activity of leptin in that these discrepancies can influence lipid levels. We aimed to determine the association between the leptin receptor gene polymorphism on serum lipid profile and leptin activity in metabolic syndrome patients. Material and Methods: This case-control study was conducted on 200 patients with metabolic syndrome and 200 healthy individuals. Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphisms (RFLP) were used to determine genotypic distribution and allelic frequencies of polymorphisms, respectively. The plasma leptin activity was measured by a kit in a fluorescence spectrometer, and Lipid concentration by routine biochemical and enzymatic assays. Results: Two groups had significant differences in all measured factors such as lipid profiles, fast blood sugar, waist circumference, blood pressure and leptin concentration (P< 0.05). Conclusion: Given that the two groups had significant differences in blood and body measurements, no role of K656N polymorphism was observed. Overall, Lys656Asn (K656N) polymorphism of leptin receptor gene is not associated with serum lipid profile and leptin activity with metabolic syndrome. Keywords: Metabolic Syndrome, Leptin Receptor Gene, PolymorphismK656N
Association of the CETP TaqIB Polymorphism with Coronary Artery Disease in Type 2 Diabetic Patients
Mohammadzadeh, Ghorban , Fatemeh Karimpour, Mohammad Ali Ghaffari, Alireza Kheirollah, Azadeh Saki,
Volume 9, Issue 5 (11-2015)
Abstract

Abstract

     Background and Objective: Diabetes mellitus is the most common risk factor for coronary artery disease (CAD). Cholesteryl ester transfer protein (CETP) TaqIB polymorphism is associated with changes in lipid profile and may be a risk factor for CAD in patients with diabetes. This study aimed to evaluate the association of CETP TaqIB polymorphism with CAD in patients with type 2 diabetes.

     Methods: In this case-control study, 292 diabetic patients were divided into two groups based on angiography reports (150 participants with normal angiogram as the control group and 142 participants with more than 50% stenosis of at least one coronary artery as the case group). The CETP TaqIB genotypes were determined by PCR-RFLP analysis. Fasting blood glucose was measured using glucose oxidase and lipid profile (triglycerides, total cholesterol, high density lipoprotein-cholesterol and low density lipoprotein-cholesterol) by an enzymatic method.

       Results: There was no significant difference in the frequency of genotypes and alleles between the case group and controls (the control group: B1B1, 17.3%; B1B2, 63.3%; and B2B2, 19.3%; the case group: B1B1, 18.3%; B1B2, 64.1%; and B2B2, 17.6%) (P=0.92). In the control group, heterozygous participants (genotype B1B2) had higher levels of cholesterol compared with other genotypes (B1B1 and B2B2). Also, the patients with genotype B1B2 had significantly higher weight (P=0.013).

       Conclusion: There is no significant correlation between CETP TaqIB polymorphism and the increased risk of coronary artery disease in patients with type 2 diabetes.

      Keywords: Cholesterol Ester Transfer Protein, Polymorphism, Diabetes Mellitus, Type 2, Coronary Artery Disease


CCL2 Polymorphism in Drug-Resistant and Drug-Responsive Patients with Epilepsy in Isfahan, Iran
Zahra Rahimi , Mansour Salehi , Abbas Dousti ,
Volume 11, Issue 3 (5-2017)
Abstract
ABSTRACT
         Background and objective: Approximately 50 million people worldwide (1% of the world's population) suffer from epilepsy. Among 700 thousand people with epilepsy in Iran, 20% have refractory epilepsy. Accumulation of leukocytes in patients' brain parenchyma is thought to be related to different types of epilepsy. Recent clinical observations suggest that therapeutic strategies that interfere with leukocytes or cause them to migrate may have therapeutic efficacy in epilepsy. The aim of this study was to identify treatment-resistant patients, and investigate the association between polymorphism rs1024611 in CCL2 gene and drug resistance in patients with epilepsy in Isfahan, Iran.
        Methods: Blood samples were taken from 50 patients with intractable epilepsy (case group) and 50 drug-responsive patients with epilepsy (control group). Genomic DNA was extracted from peripheral blood by salting out method. Specific primers were designed by Oligo 7 software to investigate polymorphism rs1024611 using PCR-RFLP. The preliminary results for a number of samples were confirmed by sequencing.
        Results: The results of this study showed that there was a significant relationship between intractable epilepsy and presence of C allele.
        Conclusion: Similar to previous study, we found a significant association between CCL2 gene polymorphism and drug-resistant epilepsy.
        Keywords: Epilepsy, Drug Resistance, Polymorphism, CCL2.
 
 
Prioritization of Deleterious Variations in the Human Hypoxanthine-Guanine Phosphoribosyltransferase Gene
Semira Kheiri, Mahdieh Safarzad, Mohammad Shariati, Hoda Sohrabi ,
Volume 12, Issue 5 (9-2018)
Abstract
ABSTRACT
            Background and Objectives: Non-synonymous single nucleotide polymorphisms are typical genetic variations that may potentially affect the structure or function of expressed proteins, and therefore could be involved in complex disorders. A computational-based analysis has been done to evaluate the phenotypic effect of non-synonymous single nucleotide polymorphisms in the gene encoding the human hypoxanthine-guanine phosphoribosyltransferase (HGPRT-1). HGPRT-1 is an enzyme involved in purine recycling pathway and its deficiency is associated with several human genetic disorders.
            Methods: We provide a list of all amino acid replacements in the human HGPRT-1 from the dbSNP, Uniprot and dbEST databases. Sorting intolerant from tolerant (SIFT) and PolyPhen softwares were also used in our study.
            Results: Of 94 amino acid substitutions, rs 267606863 was predicted to be the most deleterious. Substitutions of S110L and S104A in flexible loop and D194N, D201Y, H204R, Y195C, F199V and H204D in hood domain were predicted as functionally damaging.
            Conclusion: It could be concluded that these intolerant changes may lie within a functional region of the protein and may affect the stability and folding of HGPRT-1. These variants could be used for future functional and molecular epidemiology studies of HGPRT-1-related disorders.
            Keywords: Polymorphism, Single Nucleotide, Amino acid substitution, Hypoxanthine Phosphoribosyltransferase.

Variations of Histone Acetyltransferase 300 in Patients with Human Papillomavirus Type 6-Associated Anogenital Warts
Mana Zakeri, Alireza Mohebbi, Fatemeh Sana Askari, Mohammad Yasaghi,
Volume 14, Issue 6 (11-2020)
Abstract
Background and objectives: Pathogenesis of human papillomaviruses (HPVs) is controlled by viral and host factors, among which human histone acetyltransferase p300 (EP300) plays an important role. This study aimed to examine single nucleotide polymorphisms (SNPs) at the EP300 binding site in patients with HPV-associated anogenital wart.
     Methods: After DNA extraction, polymerase chain reaction was performed to determine HPV genotypes. Human p300 was amplified to detect SNPs using Sanger sequencing.
     Results: Overall, 35.3% of HPV-6-positive patients had Ile997Val substitution at the EP300 binding site. Another SNP containing A to G point mutation leading to Glu983Gly was also detected. In addition, Ile997Val substitution of EP300 was frequently observed in the patients.
     Conclusion: Our findings suggest that the EP300 genotype Ile/Val can be involved in HPV-6 pathogenesis. In addition, we introduced a new genotype (Glu983Gly) at the EP300 bromodomain site, which requires further investigation.

A Comparative Study of ERIC-PCR and BOX-PCR Methods for Evaluation of Genomic Polymorphism among Multidrug-Resistant Enterococcus faecium Clinical Isolates
Fatemeh Ahamdi, Elham Siasi Torbati, Kumarss Amini,
Volume 17, Issue 1 (1-2023)
Abstract
Background and objectives: Enterococcus faecium is a normal flora of gut microbiota. This opportunistic pathogen has attracted much attention due to its multidrug resistance and ability to survive in hostile environments. Various molecular typing methods such as pulsed-field gel electrophoresis or ribotyping have been developed for clinical and epidemiological investigation of these bacteria. However, these methods are time-consuming and labor-intensive. The present study was conducted to evaluate the discriminatory power of two common fingerprinting methods i.e. BOX-polymerase chain reaction (PCR) and enterobacterial repetitive intergenic consensus (ERIC)-PCR for E. faecium clinical isolates.
Methods: Fifty multidrug-resistant E. faecium isolates were isolated from 74 clinical specimens. The isolates were identified by specific 16S rRNA PCR. All isolates were fingerprinted using BOX-PCR and ERIC PCR. The discriminatory power and reproducibility of these two methods were also assessed.
Results: According to the dendrogram with >60% similarity, 17 different genotypes were observed using ERIC PCR. In addition, BOX-PCR produced 22 distinct patterns at a genetic distance percentage of 60%, with sizes ranging from 278 bp to 1450 bp. The discrimination index of BOX-PCR was higher than that of ERIC-PCR.
Conclusion: We concluded that a combination of ERIC-PCR and BOX-PCR may be a quicker and more reliable alternative for the discrimination of E. faecium clinical isolates.
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