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Association of a genetic variant in AKT1 gene with features of the metabolic syndrome 被引量:6
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作者 Fateme Sadat Eshaghi Hamideh Ghazizadeh +5 位作者 sakine kazami-nooreini Ameneh Timar Habibollah Esmaeily Mehrane Mehramiz Amir Avan Majid Ghayour-Mobarhan 《Genes & Diseases》 SCIE 2019年第3期290-295,共6页
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... 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 Z 326)and those without MetS(n Z 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,waistcircumference,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(1.05e2.1),P Z 0.02).Additionally,subjects who carried the TC genotype had a higher BMI compared to the CC genotype(p value Z 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. 展开更多
关键词 AKT1 CRP Genetic variant METS PI3K/AKT/mTOR pathway rs1130233
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