FABP1 gene variant associated with risk of metabolic syndrome

2021 ◽  
Vol 24 ◽  
Author(s):  
Reza Zare-Feyzabadi ◽  
Majid Mozaffari ◽  
Majid Ghayour-Mobarhan ◽  
Mohsen Valizadeh
Keyword(s):  
Metabolic Syndrome ◽  
International Diabetes Federation ◽  
Amplification Refractory Mutation System ◽  
Study Cohort ◽  
Increased Risk ◽  
Mutation System ◽  
Polymerase Chain ◽  
The Relationship ◽  
Diabetes And Obesity

Background: Metabolic Syndrome (MetS) is defined by a clustering of metabolic abnormalities associated with an increased risk of cardiovascular disease and type 2 diabetes mellitus. There has been an increasing interest in the associations of genetic variants involved in diabetes and obesity in the FABP1 pathway. The relationship between the rs2241883 polymorphism of FABP1 and risk of MetS remains unclear. Objective: We aimed to examine the association between this genetic polymorphism and the presence of MetS and its constituent factors. Methods: A total of 942 participants were recruited as part of the Mashhad Stroke and Heart Atherosclerosis Disorders (MASHAD study) Cohort. Patients with MetS were identified using the International Diabetes Federation (IDF) criteria (n=406) and those without MetS (n=536) were also recruited. DNA was extracted from peripheral blood samples and used for genotyping of the FABP1 rs2241883T/C polymorphism using Tetra-Amplification Refractory Mutation System Polymerase Chain Reaction (Tetra-ARMS PCR). Genetic analysis was confirmed by gel electrophoresis and DNA sequencing. Results: Using both univariate and multivariate analyses after adjusting for age, sex and physical activity, carriers of C allele (CT/CC genotypes) in FABP1 variant were related to an increased risk of MetS, compared to non-carriers (OR: 1.38, 95%CI: 1.04,1.82, p=0.026). Conclusion: The present study shows that C allele in the FABP1 variant can be associated with an increased risk of MetS. The evaluation of these factors in a larger population may help further confirm these findings.

scholarly journals Evaluation of Transcription Factor 7 like 2 polymorphisms and haplotypes in risk of Type 2 Diabetes

2016 ◽  
Vol 24 (4) ◽  
pp. 423-430 ◽  
Author(s):  
Ramin Saravani ◽  
Zahra Irani ◽  
Hamid Reza Galavi
Keyword(s):  
Type 2 Diabetes ◽  
Transcription Factor ◽  
Haplotype Analysis ◽  
Amplification Refractory Mutation System ◽  
Chronic Disorder ◽  
Increased Risk ◽  
Significant Difference ◽  
Mutation System ◽  
Control Study

Abstract Type 2 diabetes (T2D) is a chronic disorder with different genetics and environmental factors. It is one of growing diseases in the world. Previous studies show association between Transcription Factor 7 Like2 (TCF7L2) and T2D. The current study set to evaluate the relation between TCF7L2 polymorphisms and T2D in Southeast Iran. The present case-control study was done on 250 T2D and 250 healthy controls (HCs). For genotyping polymorphisms TCF7L2 (rs11196205) and (rs4132670) Amplification-Refractory Mutation System-Polymers Chain Reaction (ARMS-PCR) was used. The results showed frequency rates of GC and CC genotypes increased in patients compared to controls (31% vs. 6% and 55% vs. 8%, respectively), showing a statistically significant difference (OR=2.67(1.37-5.21), P<0.05 and OR=3.31(1.92-5.71), P< 0.05, respectively). The C allele was associated with an increased risk of T2D, with the frequency of 28% and 11% in patients and controls, respectively (OR=3.11 (2.22-4.37), P< 0.05). Another Polymorphism of this gene TCF7L2 (rs4132670) was not associated with T2D. Furthermore, the haplotype analysis revealed that rs11196205C/rs4132670C and rs11196205C/rs4132670T are risk factors against T2D (OR=2.08 (1.49-2.86, P<0.05 and OR=1.72 (1.06-2.78) P<0.05, respectively). The findings demonstrated that TCF7L2 (rs11196205) genotypes GC, CC, and allele (C) confer risk for susceptibility to T2D.

Predictive values of metabolic syndrome in children

Open Medicine ◽  
2011 ◽  
Vol 6 (4) ◽  
pp. 379-385
Author(s):  
Ivana Vorgučin ◽  
Nada Naumović ◽  
Jovan Vlaški ◽  
Dragan Katanić ◽  
Georgios Konstantinidis
Keyword(s):  
Metabolic Syndrome ◽  
Reliability Analysis ◽  
Predictive Value ◽  
Elevated Level ◽  
Diabetes Mellitus Type 2 ◽  
International Diabetes Federation ◽  
Hdl Cholesterol ◽  
Predictive Values ◽  
Increased Risk

AbstractMetabolic syndrome is a clinical term encompassing risk factors (obesity, insulin resistance, dyslipidemia and hypertension), which yield an increased risk for the development of diabetes mellitus type 2 and cardiovascular disorders in adolescence. Two sets of criteria for diagnosing metabolic syndrome were applied, the criteria for adults, specifically adapted for children, and the criteria defined by the International Diabetes Federation (IDF). A reliability analysis was conducted; sensitivity (SE), specificity (SP), positive predictive value (PPV) and negative predictive value (NPV) of applying certain criteria of both definitions of metabolic syndrome. Metabolic syndrome in adolescents was diagnosed much more frequently using the specific criteria (41%) in comparison to the IDF criteria (22%). Using the specific criteria for children and adolescents, it was established that the HDL cholesterol was the most specific and had the largest PPV. Using the IDF criteria for diagnosing metabolic syndrome, the reliability analysis established that the highest PPV was recorded with the elevated level of triglycerides. The specific criteria have been found to be more efficient in diagnosing metabolic syndrome in adolescents. The highest predictive value was displayed by dyslipidemic disorders, hypertriglyceridemia and hypo HDL cholesterolemia.

scholarly journals Associations between vaspin rs2236242 gene polymorphism, walking time and the risk of metabolic syndrome

2019 ◽  
Vol 22 (1) ◽  
pp. 41-48 ◽  
Author(s):  
E Suliga ◽  
D Kozieł ◽  
E Cieśla ◽  
D Rębak ◽  
M Wawszczak ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Polycystic Ovary ◽  
Genetic Material ◽  
Amplification Refractory Mutation System ◽  
Ovary Syndrome ◽  
Mutation System ◽  
Pcr Method ◽  
Polymerase Chain ◽  
Artery Disease ◽  
Walking Time

AbstractThe associations between serum vaspin levels and metabolic or coronary artery disease (CAD) and polycystic ovary syndrome (PCOS) is under the scope of current researchers. Therefore, this adipokine can be considered as a biomarker of metabolic syndrome (MetS). The aim of the study was to analyze the associations between the vaspin rs2236242 polymorphism and physical activity in relation to MetS and its components. The analysis involved the genetic material and clinical data of 108 individuals with MetS and 110 controls. Vaspin rs2236242 polymorphism was detected using the tetra-primer amplification-refractory mutation system polymerase chain reaction (T-ARMS PCR) method. The TA genotype of vaspin rs2236242 was associated with a greater risk of MetS and its components compared with the TT genotype. The analysis of interactions between genotype and walking time revealed that a walking time longer than 60 min./day significantly decreased the risk of MetS in the TA carriers (p = 0.007). The obtained results suggest that any unfavorable effect of the TA genotype of the vaspin rs2236242 polymorphism can be essentially reduced, or even reversed, in a case of individuals walking longer than 60 min. a day. The analysis of the interaction between vaspin rs2236242 polymorphism and walking showed that a walking time of longer than 1 hour a day significantly reduced the risk of MetS, elevated blood pressure and triglycerides concentration.

scholarly journals PCSK9 Gene Polymorphisms Associated With the Risk of Myocardial Infarction in Iranian Patients

2021 ◽  
Vol 6 (2) ◽  
pp. 57-63
Author(s):  
Farshad Namordizadeh ◽  
Mahboobeh Nasiri
Keyword(s):  
Myocardial Infarction ◽  
Gene Polymorphisms ◽  
Prognostic Markers ◽  
Regulatory Protein ◽  
Amplification Refractory Mutation System ◽  
Pcsk9 Gene ◽  
Arms Pcr ◽  
Increased Risk ◽  
Mutation System ◽  
Polymerase Chain

Introduction: Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a key regulatory protein in lipid metabolism and a candidate gene in the etiology of cardiovascular diseases. The present study aimed to evaluate the prevalence and significance of PCSK9 rs505151 and rs11591147 variants with myocardial infarction (MI) risk in the Iranian population. Patients and Methods: The frequency of the PCSK9 rs505151 and rs11591147 variants were compared between 600 cases of MI and 600 healthy age- and sex-matched individuals. Tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS PCR) was used for rs505151, and amplification refractory mutation system-polymerase chain (ARMS-PCR) was utilized to detect the rs11591147 polymorphism. Finally, SPSS and SHEsis software were applied for data analysis. Results: Carriers of the GG genotype of rs505151 polymorphism (OR: 1.57, 95% CI: 1.05–2.35, P = 0.02; age-adjusted; OR: 1.54, 95% CI: 1.03–2.32, P = 0.03) and at least one G-allele including GG+AG vs. AA (OR: 1.54, 95% CI: 1.04–2.28, P = 0.03; age-adjusted; OR: 1.51, 95% CI: 1.01–2.24, P = 0.04) have an increased risk of MI. No association between PCSK9 rs505151 alleles and MI risk was observed. The ratio of individuals with the rs11591147GT variant was higher in healthy individuals vs. patients with MI (48.6% vs. 41.7%), indicating a reduced risk of developing MI (OR: 0.75; 95% CI: 0.59–0.95; P = 0.01; age-adjusted; OR: 0.74; 95% CI: 0.58–0.95; P = 0.01). The carriers of at least one T allele (TT+GT vs. GG) (OR: 0.78; 95% CI: 0.62–0.98; P = 0.03; age-adjusted; OR: 0.78; 95% CI: 0.62–0.98; P = 0.03) showed a significant reduction in MI risk. The allelic frequencies at this polymorphic site did not differ between MI patients and healthy counterparts. No association was found between the haplotypes constructed from the alleles of these two polymorphisms. Conclusion: Our study provides the first evidence that PCSK9 gene polymorphisms may serve as independent prognostic markers for MI patients in Iran.

scholarly journals Genetic Variation in Intergenic and Exonic miRNA Sequence and Risk of Multiple Sclerosis in the Isfahan Patients

2018 ◽  
pp. 477-484 ◽  
Author(s):  
Golshani Golshani ◽  
Zohreh Hojati ◽  
Ali Sharifzadeh ◽  
Vahid Shaygannejad ◽  
Mojtaba Jafarinia
Keyword(s):  
Multiple Sclerosis ◽  
Autoimmune Disease ◽  
Mirna Sequence ◽  
Amplification Refractory Mutation System ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Significant Difference ◽  
Mutation System ◽  
Pcr Method ◽  
The Relationship

MicroRNAs (miRNAs), have been documented to perform a key role in the pathogenesis of multiple sclerosis (MS), a chronic inflammatory and autoimmune disease. Recent studies have shown that single nucleotide polymorphism in the sequence of the miRNA may change their production and expression which can lead to miRNA dysfunction and pathogenicity. Some studies have reported the relationship between miRNA polymorphism and the increased risk of autoimmune disease. This study was conducted to investigate the association between mir155 rs767649, mir196a2 rs11614913 and mir23a rs3745453 polymorphism and the risk of multiple sclerosis in the Iranian MS patients in Isfahan. A population of 80 patients and the same number control were selected. After DNA extraction, genotyping was performed through tetra amplification refractory mutation system-PCR method (T ARMS PCR). The frequencies of TT, TC and CC genotypes of mir23a were 46, 35 and 20% in MS patients and 42, 14 and 24 in healthy subjects respectively. These results showed that individuals carrying the genotypes of rs3745453 TC had a 2.3-fold increased risk of MS (OR=2.3, p=0.048). There was no significant difference between genotypes and allele frequency of mir155 and mir196a2 in patients and healthy controls (p>0.05). Our findings specified that CT heterozygosity in mir23a gene significantly related with risk of MS. Unlike mir155 and mir196a2, mir23a rs3745453 may have contributed to the etiology of MS in Isfahan patients. However, extensive studies are required to gain more reliable and authentic results.

scholarly journals Metabolic syndrome is associated with reduced flow mediated dilation independent of obesity status

2020 ◽  
Vol 183 (2) ◽  
pp. 211-220 ◽  
Author(s):  
Victoria S Sprung ◽  
Kelly A Bowden Davies ◽  
Juliette A Norman ◽  
Andrew Thompson ◽  
Katie L Mitchell ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
International Diabetes Federation ◽  
Mean Difference ◽  
Liver Fat ◽  
Study Cohort ◽  
Flow Mediated Dilation ◽  
Cvd Risk ◽  
Obesity Status ◽  
Increased Risk ◽  
Cardio Respiratory Fitness

Background Data suggest that metabolic health status, incorporating components of metabolic syndrome (MetS), predicts cardiovascular disease (CVD) risk better than BMI. This study explored the association of MetS and obesity with endothelial function, a prognostic risk factor for incident CVD. Methods Forty-four participants were phenotyped according to BMI as non-obese vs obese (<30 or >30 kg/m2) and according to the International Diabetes Federation criteria of MetS: ≤2 criteria MetS (MetS−) vs ≥3 criteria MetS (MetS+); (1.)non-obese MetS− vs (2.) non-obese MetS+ and (3.) obese MetS− vs (4.) obese MetS+. Flow-mediated dilation (FMD), body composition including liver fat (MRI and spectroscopy), dietary intake, intensities of habitual physical activity and cardio-respiratory fitness were determined. Variables were analysed using a one-factor between-groups ANOVA and linear regression; mean (95% CI) are presented. Results Individuals with MetS+ displayed lower FMD than those with MetS−. For non-obese individuals mean difference between MetS+ and MetS− was 4.1% ((1.0, 7.3); P = 0.004) and obese individuals had a mean difference between MetS+ and MetS− of 6.2% ((3.1, 9.2); P < 0.001). Although there was no association between BMI and FMD (P = 0.27), an increased number of MetS components was associated with a lower FMD (P = 0.005), and after adjustment for age and sex, 19.7% of the variance of FMD was explained by MetS, whereas only 1.1% was explained by BMI. Conclusions In this study cohort, components of MetS, rather than obesity per se, contribute to reduced FMD, which suggests a reduced bioavailability of nitric oxide and thus increased risk of CVD.

Snus use during the life-course and risk of the metabolic syndrome and its components

2017 ◽  
Vol 45 (8) ◽  
pp. 733-740 ◽  
Author(s):  
Marja Lisa Byhamre ◽  
Per E Gustafsson ◽  
Jan-Håkan Jansson ◽  
Maria Wennberg ◽  
Anne Hammarström ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Life Course ◽  
Fasting Glucose ◽  
International Diabetes Federation ◽  
Population Based ◽  
The Metabolic Syndrome ◽  
Increased Risk ◽  
The Life Course ◽  
Crude Analysis

Objective: We aimed to investigate the association between life-course exposure to snus and prevalence of the metabolic syndrome and its components in adulthood. Design and method: Tobacco habits at baseline (age 16) and three follow-ups (ages 21, 30 and 43) were assessed among 880 participants in a population-based cohort in Northern Sweden. Presence of the metabolic syndrome at age 43 was ascertained using the International Diabetes Federation criteria. Odds ratios and CIs for risk of the metabolic syndrome and its components by snus use at 16, 21, 30 and 43 years were calculated using logistic regression. Cumulative snus use was defined as number of life periods (1–4) with current snus use. Results: At age 43, 164 participants (18.6%) were current snus users. We found no association between exclusive snus use at the ages of 16, 21, 30 and 43 years and the metabolic syndrome at age 43 years. Snus use (among non-smokers) was associated with raised triglycerides and high blood pressure in crude analysis, but not in multivariable models. There was no association between cumulative snus use and risk of the metabolic syndrome. Cumulative snus use was associated with central obesity, raised triglycerides and impaired fasting glucose/diabetes mellitus type 2 in crude analyses, but not after adjustments. Conclusions: The health consequences of snus exposure from adolescence to mid-adulthood do not seem to include increased risk of the metabolic syndrome or its components. The cardio-metabolic risk of dual exposure to snus and cigarettes may warrant further attention.

Association of Interleukin-6 –174G>C Promoter Polymorphism with Risk of Cervical Cancer

2009 ◽  
Vol 24 (1) ◽  
pp. 11-16 ◽  
Author(s):  
Ruchika Gangwar ◽  
Balraj Mittal ◽  
Rama Devi Mittal
Keyword(s):  
Cervical Cancer ◽  
Interleukin 6 ◽  
Promoter Polymorphism ◽  
Amplification Refractory Mutation System ◽  
Physiological Processes ◽  
Increased Risk ◽  
Mutation System ◽  
Polymerase Chain ◽  
Control Study ◽  
Multifunctional Cytokine

Background The etiology of cervical cancer is associated with excessive–inflammation-mediated tumorigenesis. Interleukin-6 ( IL-6), a multifunctional cytokine, regulates inflammation and various physiological processes. We therefore aimed to evaluate the association of the IL-6 –174G>C polymorphism with predisposition to cervical cancer. Materials and methods The present case-control study comprised 160 histopathologically confirmed cases of cervical cancer and 200 healthy controls. Polymorphism for the IL-6 gene was genotyped by amplification refractory mutation system (ARMS) polymerase chain reaction (PCR). Results We observed a significant association of the IL-6 –174CC genotype with risk of cervical cancer (OR=3.16; p=0.014). An increased risk of developing stage I tumors was found in individuals with a heterozygous (GC) genotype (OR=3.63, p=0.003). In a case-only analysis, the risk was further increased in patients consuming tobacco products (OR=3.14; p=0.033). Conclusion The CC genotype in the IL-6 promoter region may confer a high risk of cervical cancer, which is further modulated in patients who are tobacco users.

Cardiovascular Complications in Patients with Klinefelter’s Syndrome

2020 ◽  
Vol 26 (43) ◽  
pp. 5556-5563
Author(s):  
Franz Sesti ◽  
Riccardo Pofi ◽  
Carlotta Pozza ◽  
Marianna Minnetti ◽  
Daniele Gianfrilli ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Klinefelter Syndrome ◽  
Subclinical Atherosclerosis ◽  
Cardiovascular Complications ◽  
High Risk Population ◽  
Metabolic Disturbances ◽  
Future Studies ◽  
Increased Risk ◽  
Chromosome Disorder

More than 70 years have passed since the first description of Klinefelter Syndrome (KS), the most frequent chromosome disorder causing male infertility and hypogonadism. KS is associated with increased cardiovascular (CV) mortality due to several comorbidities, including hypogonadism, as well as metabolic syndrome and type 2 diabetes, which are highly prevalent in these patients. Aside from metabolic disturbances, patients with KS suffer from both acquired and congenital CV abnormalities, cerebrovascular thromboembolic disease, subclinical atherosclerosis and endothelial dysfunction, which may all contribute to increased CV mortality. The mechanisms involved in this increased risk of CV morbidity and mortality are not entirely understood. More research is needed to better characterise the CV manifestations, elucidate the pathophysiological mechanisms and define the contribution of testosterone replacement to restoring CV health in KS patients. This review explores the complex association between KS, metabolic syndrome and CV risk in order to plan future studies and improve strategies to reduce mortality in this high-risk population.

Metabolic Syndrome During Menopause

2019 ◽  
Vol 17 (6) ◽  
pp. 595-603 ◽  
Author(s):  
Sezcan Mumusoglu ◽  
Bulent Okan Yildiz
Keyword(s):  
Insulin Resistance ◽  
Metabolic Syndrome ◽  
Central Obesity ◽  
Polycystic Ovary ◽  
Ovary Syndrome ◽  
Natural Menopause ◽  
The Metabolic Syndrome ◽  
Increased Risk ◽  
Aging Women

The metabolic syndrome (MetS) comprises individual components including central obesity, insulin resistance, dyslipidaemia and hypertension and it is associated with an increased risk of cardiovascular disease (CVD) and type 2 diabetes mellitus (T2DM). The menopause per se increases the incidence of MetS in aging women. The effect(s) of menopause on individual components of MetS include: i) increasing central obesity with changes in the fat tissue distribution, ii) potential increase in insulin resistance, iii) changes in serum lipid concentrations, which seem to be associated with increasing weight rather than menopause itself, and, iv) an association between menopause and hypertension, although available data are inconclusive. With regard to the consequences of MetS during menopause, there is no consistent data supporting a causal relationship between menopause and CVD. However, concomitant MetS during menopause appears to increase the risk of CVD. Furthermore, despite the data supporting the association between early menopause and increased risk of T2DM, the association between natural menopause itself and risk of T2DM is not evident. However, the presence and the severity of MetS appears to be associated with an increased risk of T2DM. Although the mechanism is not clear, surgical menopause is strongly linked with a higher incidence of MetS. Interestingly, women with polycystic ovary syndrome (PCOS) have an increased risk of MetS during their reproductive years; however, with menopausal transition, the risk of MetS becomes similar to that of non-PCOS women.

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