1.
Polymorphisms of the FTO and MTHFR genes and vascular, inflammatory and metabolic marker levels in postmenopausal women.
Chedraui, P, Pérez-López, FR, Escobar, GS, Espinoza-Caicedo, JA, Montt-Guevara, M, Genazzani, AR, Simoncini, T, ,
Journal of endocrinological investigation. 2016;(8):885-90
Abstract
OBJECTIVE To determine the prevalence of three single nucleotide polymorphisms (SNPs) in postmenopausal women with and without the metabolic syndrome (METS) and to explore levels of circulating biomarkers of inflammation, vascular and metabolic dysfunction according to SNP genotypes. METHODS DNA was extracted from the whole blood of 192 natural postmenopausal women (40 to 65 years) screened for the METS and tested for three gene SNPs related to obesity: the fat mass obesity (FTO: rs9939609) and the methylenetetrahydrofolate reductase (MTHFR C677T and A1298C). Blood levels of angiopoietin, IL-8, sFASL, IL-6, TNF-α, sCD40L, PAI-1, u-PA, leptin, adiponectin, resistin, ghrelin, visfatin, adipsin and insulin were measured in a subgroup, with and without the METS, using multiplex technology (n = 100) and compared according to SNP genotypes. RESULTS Genotype frequency of the three studied SNPs did not differ in relation to the presence of the METS. However, genotypes CT+TT (C677T) and AT (rs9939609) were more prevalent in women with high triglyceride levels. Pooled sub-analysis (n = 100) found that median sCD40L and visfatin levels were higher in women with genotypes AT+TT (rs9939609) as compared to AA (1178 vs. 937.0 pg/mL and 0.93 vs. 0.43 ng/mL, respectively, p < 0.05). CONCLUSION Two SNP genotypes related to obesity were more prevalent in women with abnormal triglyceride levels and two vascular and inflammatory serum markers were higher in relation to the rs9939609 SNP.
2.
Associations between two single nucleotide polymorphisms of the adiponectin gene, its circulating concentrations and cardiometabolic risk factors in prepubertal children with and without abdominal obesity.
Galcheva, SV, Martorana, D, Iotova, VM, Yotov, Y, Neri, TM, Street, ME
Journal of endocrinological investigation. 2013;(10):869-75
Abstract
BACKGROUND The adiponectin gene has been identified as a susceptibility locus for metabolic syndrome, diabetes and cardiovascular disease. AIM: To examine the influence of two single nucleotide polymorphisms (SNPs) of this gene (+276G>T and +45T>G) on circulating adiponectin concentrations, and to evaluate their relationship with adiposity and cardiometabolic risk factors in prepubertal children with and without abdominal obesity. MATERIAL AND METHODS 168 children (78M, 6-10 yr) were examined, divided into three groups based on waist circumference (WC). Auxological and biochemical parameters were measured by standard procedures. Adiponectin SNPs were genotyped using TaqMan allelic discrimination assays. RESULTS Adiponectin concentration correlated inversely with measures of adiposity (rBMIz-score=-0.211, pBMIz-score=0.007; rwc=-0.210, pwc=0.008; rwc/height=-0.215, pwc/height=0.006), and was significantly influenced by blood glucose, insulin and systolic blood pressure (SBP). The +276T-allele carriers had higher SBP and diastolic BP compared to GG-homozygotes (p<0.05), and expressed higher obesity-related measures and lower adiponectin concentrations. As to the +45T>G SNP, the GGsubject had higher total cholesterol and LDL-C concentrations compared to the T-allele carriers (p<0.05), showing worse obesity measures, higher triglyceride, glucose and insulin and lower serum adiponectin values. CONCLUSION Genetic variants of the adiponectin gene had an impact on adiposity, adiponectin concentrations and some cardiometabolic variables among prepubertal children.