Showing 6 results for Daneshpour
Sara Sheikholeslami , Marjan Zarif Yeganeh, Laleh Hoghooghi Rad, Maryam Sadat Daneshpour, Mehdi Hedayati ,
Volume 72, Issue 8 (November 2014)
Abstract
Background: Medullary thyroid carcinoma (MTC) occurs in both sporadic (75%) and hereditary (25%) forms. The missense mutations of the rearranged during transfection (RET) proto-oncogene in MTC development have been well demonstrated. Several studies have been published that indicate the molecular analysis of RET gene may offer early identification of those patients at high risk to develop MTC and may provide the opportunity for early intervention. The aim of this study was to investigate frequency of G691S/S904S haplotype in MTC patients and their relatives.
Methods: From 2004 to 2014, 358 participants were studied, including 213 patients (119 female, 94 male) and 145 their relatives (79 female, 66 male) in cellular and molecular research center of Shahid Beheshti Research Institute for Endocrine Sciences, Tehran, Iran. Genomic DNA was extracted from peripheral blood leucocytes using the standard Salting Out/Proteinase K method. Nucleotide change detection was performed using PCR and direct DNA sequencing methods. The RET mutations and SNPs, sequences were analyzed.
Results: According to DNA sequencing results, 189 individuals (119 patients, 70 relatives) had both G691S (rs1799939) missense mutation in exon11 and S904S (rs1800863) synonymous mutation in exon 15 of RET proto-oncogene. The allele frequency of G691S/S904S haplotype was 35.02% in patients and 29.92% in their relatives.
Conclusion: The obtained data showed the frequency of G691S/S904S RET gene haplotype among Iranian MTC patients and their relatives. The G691S and S904S nucleotide changes were in complete linkage disequilibrium, so the results were grouped together and referred to as G691S/S904S haplotype. This haplotype are not considered as oncogenic mutations at this time, its functional role should be investigated. Further analysis is needed to demonstrate the association between this haplotype and MTC development.
Mahdi Safarpour , Ahmad Ebrahimi , Maryam Sadat Daneshpour ,
Volume 73, Issue 9 (December 2015)
Abstract
Despite the valuable results achieved in identification of genes and genetic changes associated with type 2 diabetes (T2D), lack of consistency and reproducibility of these results in different populations is one of the challenges lie ahead in introduction of T2D candidate genes. Therefore, the present review article aimed to provide an overview of the most important genes and genetic variations associated with development of T2D based on a systematic search in well-known genetic databases. For this purpose, the National Center for Biotechnology Information, Database of Genotypes and Phenotypes (NCBI dbGaP) and Human Genome Epidemiology Network (HuGENet) database were searched to find the most important genes associated with T2D. In addition, a gray literature search was conducted to collect any available information released by laboratories offering genetic tests such as deCODE genetics and 23andMe. Candidate genes were selected among the results of all databases based on the highest level of similarity. Subsequently, without any time restriction, PubMed, Scopus and Google scholar databases were searched using relevant Medical Subject Headings (MeSH) terms to access related articles. The relevant articles were screened to make a conclusion about the genes and genetic variations associated with T2D. The results revealed that four selected candidate genes, in order of importance, were TCF7L2, CDKAL1, KCNJ11, and FTO. The most significant single nucleotide polymorphism (SNP) associated with T2D in the TCF7L2 gene was rs7903146 however, the results showed a wide range of variation from slight association in the Amish (P= 5.0×10-2) to strong association in European descent populations (P= 2.0×10-51). Then, rs10440833 mapping to the intronic region of the CDKAL1 gene showed significant association with T2D (P= 2.0×10-22). In the KCNJ11 gene, a missense variation (rs5215) in exon one was found to have the highest association with T2D compared with other SNPs discovered in this gene (P= 5.0×10-11). Finally, rs8050136 located in the first intron of the FTO gene had the strongest association with T2D (P= 2.0×10-17). On the basis of these results, it can be concluded that the current study can be introduced as a model for achieving well-documented results among spectrum of information available in genetic databases based on a systematic search strategy. The candidate genes and genetic variations presented in this review article might be applied for early diagnosis, prevention, and treatment of T2D.
Zahra Asghari Lalami, Ahmad Ebrahimi, Maryam-Sadat Daneshpour,
Volume 74, Issue 6 (September 2016)
Abstract
Background: Obesity is one of the most important problems in developed countries and cause cardiovascular diseases, diabetes and hypertension. The complex phenotype influenced by both genetic and the environment factors. One of the most important genes which is effective in this phenotype is peroxisome proliferator-activated receptor gamma (PPAR-γ). This study was carried out of investigate the association of Pro12Ala (rs1801282) polymorphism in mentioned gene with obesity in Tehran Lipid and Glucose Study (TLGS).
Methods: The present study done in September 2014 in Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences. For the present case-control study 239 subjects with excess weight and body mass index more than 30 kg/m2 as a case and 240 subjects with normal weight and body mass index less than 25 kg/m2 as a control were selected. The rs1801282 was proliferated, detected and genotyped using tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) method.
Results: The results indicated that there was significant association between the presence of risk allele G of rs1801282 and obesity disease in the TLGS population (P=0.000). Genotype and allelic frequencies of rs1801282 in patient and healthy group were: 55.2% and 23.8% for GG, 24.3% and 30.4% for GC, 20.5% and 45.8% for CC, 67% and 39% for G, 33% and 61% for C, respectively.
Conclusion: The results of study indicated that the presence of G allele could be increase 1.7 the risk of obesity. These differences in patient and healthy group lead us to select this marker as a genetic marker to predict the risk of obesity. There are statistical differences between the distribution of mentioned polymorphism in Tehranian population and other populations. However, replicating the study in a larger population of Tehranian people with more affected cases is suggested to generalize the results of this study.
Asiyeh Sadat Zahedi , Bahareh Sedaghati-Khayat , Sara Behnami , Fereidoun Azizi , Maryam Sadat Daneshpour ,
Volume 76, Issue 7 (October 2018)
Abstract
Background: Metabolic syndrome (MetS) is characterized by a combination of cardio-metabolic risk factors. Given that genetic factors have been shown to contribute to individual susceptibility to MetS, the identification of genetic markers for disease risk is essential. Recent studies revealed that rs780094 and rs1260326 of glucokinase regulatory gene (GCKR) are associated with serum triglycerides, plasma glucose levels and metabolic syndrome. The aim of this study was to investigate associations of GCKR gene variants with metabolic syndrome and its components.
Methods: This case-control study was conducted from April to August 2017. In this study, 8710 adults (3522 males and 5188 females), over 19 years, were randomly selected from the Tehran Lipid and Glucose Study (TLGS) population. Based on joint interim statement (JIS) criteria, the subjects were divided into two groups: case and control. Genotyping was performed by HumanOmniExpress-24 v1.0 BeadChips (Illumina, San Diego, CA, USA).
Results: Allele frequencies were in conformity with Hardy-Weinberg equilibrium. Comparisons of allele frequencies by the Chi-square test revealed that frequencies of TT genotype of both polymorphisms were significantly higher among patient group than healthy group. Logistic regression analysis with adjustment for age, gender and CRP revealed that the GCKR polymorphisms (rs1260326: odds ratio 2.7, 95% CI 1.6-4.6, rs780094: odds ratio 2.5, 95% CI 1.5-4.2) were significantly associated with MetS. Frequency of TT genotype was more in persons who had C-reactive protein (CRP) levels above 3 mg/l. The minor T allele of both polymorphisms was significantly associated with increases in the blood serum concentration triglyceride and to a decrease in fasting plasma glucose levels.
Conclusion: The results of our study indicated that, rs780094 and rs1260326 common polymorphisms of the GCKR gene were associated with serum triglycerides levels, fasting plasma glucose levels, and metabolic syndrome in a sample of the Tehranian population (TLGS), as it was already confirmed the inverse effect of this polymorphisms on triglycerides and glucose levels in previous studies.
Glareh Koochakpoor, Firoozeh Hosseini-Esfahani , Maryam Sadat Daneshpour , Parvin Mirmiran , Fereidoun Azizi ,
Volume 76, Issue 10 (January 2019)
Abstract
Background: There are contradictions in the role of genetic variations and food group intake on metabolic syndrome (MetS). This study was aimed at examining the interaction between food groups and CCND2 rs11063069, ZNT8 rs13266634 and MC4R rs12970134 polymorphisms, regarding MetS and its components.
Methods: In this matched nested case-control study (2006-2014), the data of 1634 (817 pairs) case and controls were selected among participants of the Tehran Lipid and Glucose Study (TLGS). The cases and controls were matched by age, sex and number of follow-up years. Dietary intakes were assessed using a valid and reliable food frequency questionnaire. Polymorphisms were genotyped.
Results: A significant interaction was observed between rs12970134 and green vegetable, read meat, and soft drink, in relation to the risk of low high density lipoprotein cholesterol (HDL-C), high triglyceride (TG) and high fasting blood glucose (FBG), respectively (P<0.05). The consumption of vegetables altered the effect of rs11063069 on MetS. Among G allele carriers, being in the highest quartiles of vegetables intake had a decrease risk of MetS, compared to those in the lowest quartile (P=0.007), but this trend was not observed in AA genotype carrier. There was also a significant interaction between rs13266634 and salty snack and fish intakes, in relation to the risk of abdominal obesity (P<0.05). Increasing salty meals by CT+TT genotypes carriers increased the odds ratio of abdominal obesity, while in the CC genotype, this increase was not observed. A significant interaction was also observed between rs11063069 with other vegetables, red-yellow vegetable and fruit intake respectively, regarding the risk of high FBG, low HDL-C and high blood pressure (P<0.05).
Conclusion: The present study demonstrates the interaction between food groups and MC4R, ZNT8 and CCND2 polymorphisms. To reduce the risk of MetS, high risk allele carriers of rs12970134 must avoid meat consumption, while in high risk allele carriers of rs11063069 and rs13266634, vegetables and fish should be consumed.
Mahdi Akbarzadeh, Danial Habibi , Goodarz Kolifarhood , Mohammad Bidkhori, Fereidoun Azizi , Maryam S. Daneshpour,
Volume 80, Issue 11 (February 2023)
Abstract
Background: Mendelian randomization (MR) is a new generation in the statistical method that uses genetic variants as instrumental variables in data from non-experimental studies to evaluate and estimate the causal effects of risk factors.
Methods: The weakness of observational studies to detect causality, the difficulties of conducting clinical trials, the dramatic advancement of Genome-Wide Association Studies (GWAS) have led to the emergence of a new type of study called MR. It is increasingly being used to determine causality MR is an approach based on meta-analysis methods. The main idea of the MR is based on using the instrument variable (IV) to find the causality between exposure and outcome. This variable does not need to adjust the confounding effects found in observational studies.
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Results: Data for this study were collected from the beginning of January 2003 to October 2020 in PubMed. Our results showed that MR has an increasing trend. The data used in MR includes summarized statistical data, individual-level data, and meta-analysis. Choosing the suitable IV is essential to successfully conduct an MR. For an unbiased estimate, three main hypotheses should be considered: 1) The IV has a strong relationship with the desired exposure (i.e., potential risk factor), 2) The IV is not related to the confounding variable, and 3) The IV is not directly related to the outcome and should only relate to the outcome through exposure. If these conditions are not met, one solution is to use robust methods. Besides, this research introduced the study designs, estimation methods, limitations, software packages, and some applications of MR in medical research.
Conclusion: When we seek to find a causal relationship, but it is not possible to use a clinical trial as a standard method, the MR design can be used in observational studies. Therefore, it is possible to obtain causal relationships between exposure and outcome using the MR.
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