Association of a genetic variant in AKT1 gene with features of the metabolic syndrome

Eshaghi, F. S. and Ghazizadeh, H. and Kazami-Nooreini, S. and Timar, A. and Esmaeily, H. and Mehramiz, M. and Avan, A. and Ghayour-Mobarhan, M. (2019) Association of a genetic variant in AKT1 gene with features of the metabolic syndrome. Genes and Diseases, 6 (3). pp. 290-295.

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Metabolic syndrome (MetS) is a clustering of metabolic abnormalities that is associated with increased risk of developing cardiovascular disease and type 2 diabetes. There is growing body of data showing the associations of genetic variants of the genes involved in the PI3K/AKT/mTOR pathway with diabetes and obesity. We aimed to investigate the association between MetS and its components with the genetic polymorphism in AKT1, rs1130233 (T > C). Total of 618 participants, recruited from Mashhad stroke and heart atherosclerosis disorder cohort (MASHAD study). Patients with MetS were defined by using international diabetes federation (IDF) criteria (n = 326) and those without MetS (n = 261) were recruited. Anthropometric and biochemical parameters were measured in all subjects. Genetic analysis for the rs1130233 polymorphism was performed, using the ABI-StepOne instruments with SDS version-2.0 software. Individuals with MetS had a significantly higher levels of BMI, waist-circumference, total cholesterol, triglyceride, high sensitivity-c reactive protein (hs-CRP) and blood-pressure, and lower concentrations of high density lipoprotein (HDL-C), compared to non-MetS individuals (P < 0.05). The association between the rs1130233 and MetS was not significant. Subjects with a CC or CT genotypes had a significantly higher serum hs-CRP-level (OR: 1.5; 95 CI (1.05–2.1), P = 0.02). Additionally, subjects who carried the TC genotype had a higher BMI compared to the CC genotype (p value = 0.045). Our findings demonstrated that AKT1, rs1130233 (T > C) polymorphism was associated with major components of MetS such as hs-CRP, and BMI, indicating further investigation in a multi-center setting to explore its value as an emerging biomarker of risk stratification marker. © 2019 Chongqing Medical University

Item Type: Article
Additional Information: Cited By :1 Export Date: 16 February 2020 Correspondence Address: Ghayour-Mobarhan, M.; Metabolic Syndrome Research Center, Mashhad University of Medical SciencesIran; email:
Uncontrolled Keywords: AKT1 CRP Genetic variant MetS PI3K/AKT/mTOR pathway rs1130233 C reactive protein cholesterol high density lipoprotein cholesterol low density lipoprotein cholesterol triacylglycerol adult Akt signaling AKT1 gene Article body mass cardiovascular risk cerebrovascular accident cholesterol blood level clinical feature cohort analysis comparative study controlled study coronary artery atherosclerosis cross-sectional study diastolic blood pressure female gene genetic analysis genetic association genetic risk genetic variability hip circumference human International Diabetes Federation major clinical study male metabolic syndrome X middle aged single nucleotide polymorphism systolic blood pressure triacylglycerol blood level waist circumference
Subjects: QZ pathology-neoplasms-Genetics
Divisions: Mashhad University of Medical Sciences
Depositing User: mr lib1 lib1
Date Deposited: 21 Jun 2020 05:06
Last Modified: 21 Jun 2020 05:06

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