Abstract
Metabolic syndrome (MetS) is a combination of metabolic disorders associated with an increased risk for cardiovascular disease (CVD). Studies in women reported associations between polymorphisms in ESR1, LPL and CETP genes and MetS. Our aim was to evaluate the association between variants in ESR1, LPL and CETP genes with MetS and its components. Four hundred and eighty women were analyzed, anthropometric features and biochemical profiles were evaluated, and genotyping was performed by real-time PCR. We found an association with elevated glucose levels (odds ratio (OR) = 2.9; p = 0.013) in carrying the AA genotype of rs1884051 in the ESR1 gene compared with the GG genotype, and the CC genotype of rs328 in the LPL gene was associated with MetS compared to the CG or GG genotype (OR = 2.8; p = 0.04). Moreover, the GA genotype of rs708272 in the CETP gene is associated with MetS compared to the GG or AA genotype (OR = 1.8; p = 0.006). In addition the ACTCCG haplotype in the ESR1 gene is associated with a decrease in the risk of MetS (OR = 0.02; p < 0.001). In conclusion, our results show the involvement of the variants of ESR1, LPL and CETP genes in metabolic events related to MetS or some of its features.
Highlights
Metabolic syndrome (MetS) is a combination of metabolic disorders and is associated with an increased risk for cardiovascular disease (CVD) and type 2 diabetes (T2D) in both genders [1]
Estimates of admixture proportions were obtained with the program ADMIXMAP v.3.8, using data from 104 ancestry informative markers (AIMs)
In a model of overdominant inheritance we found significant association of the GA genotype of rs708272 in the CETP gene with MetS compared to women carrying the GG or AA genotype (OR = 1.8; 95% CI: 1.2–2.7; p = 0.006) regardless of age, years of schooling and admixture proportion, where significant association was found with blood pressure ≥130/85 mmHg and glucose ≥110 mg/dL or T2D (Table 5)
Summary
Metabolic syndrome (MetS) is a combination of metabolic disorders and is associated with an increased risk for cardiovascular disease (CVD) and type 2 diabetes (T2D) in both genders [1]. The MetS traits, as defined by the guidelines the National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP III) most frequently used in the world include an increased waist circumference, blood pressure (BP) elevation, low high-density lipoprotein cholesterol (HDL-c), high triglycerides (TG) and hyperglycemia [2]. The NECP-ATP III provides evidence-based recommendations on the management of high blood cholesterol, metabolic syndrome and related disorders. Based on the ATP III guidelines, the diagnosis of MetS is performed when three or more of the five criteria, i.e., abdominal obesity (waist circumference >88 cm for women or >102 cm for men), TG ≥ 150 mg/dL, reduced HDL-c < 50 mg/dL for women or
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