<em>PPARgamma-2</em> and <em>ADRB3 </em>polymorphisms in connective tissue diseases and lipid disorders

Abstract

BackgroundThe aim of the research genetic study was to investigate the association between variants (C1431T and Pro12Ala) of the peroxisome proliferator-activated receptor (PPARgamma-2) gene, Trp64Arg polymorphism of the beta-3-adrenergic receptor gene and lipid profile in Polish population including group of 103 patients with connective tissue disease (CTD) and 103 sex-and age-matched controls in context of statin use.MethodsAnthropometric and biochemical parameters were measured by routine methods, followed by genotyping (TagMan® Genotyping Assays, PCR-restriction fragment length polymorphism analysis). Nearly 30% of CTD patients used statins and 10% of the control group.ResultsAlthough there were no differences between alleles and genotypes prevalence between CTD vs control groups, interesting lipid-gene associations were noted in this study. A higher level of triglycerides (TAG) and TAG/high-density lipoprotein (HDL) ratios was observed in CTD patients compared to controls. Similar differences were noted in CTD and control groups without statin treatment. Atherogenic markers: the atherogenic index of plasma, TAG/HDL and low-density lipoprotein/HDL ratio were low in the analyzed groups. Of the six analyzed polymorphisms, the Pro12Pro or C14131C or Trp64Trp genotypes were related to higher TAG and TAG/HDL ratios in patients with CTD; however, the highest TAG values were observed in the presence of the Trp64Trp genotype.ConclusionLipid disorders were present in both groups independent of statin treatment (mixed dyslipidemia and hypercholesterolemia were observed in the CTD and control groups, respectively). The risk of dyslipidemia increases with age. The presence of Pro12Pro, C14131C and Trp64Trp genotypes is related to higher TAG level in CTDs, and of these the Trp64Trp variant most reliably predicts hypertriglyceridemia.

Genetic Background of Hypertension in Connective Tissue Diseases

“…A detailed description of the methodology was included in our previous studies [2,18,24]. DNA samples from patients and controls were isolated from peripheral blood lymphocytes with a Gentra Puregene Blood Kit (Qiagen, Hilden, Germany).…”

“…In this study, 111 patients were selected from patients in the Department of Rheumatology and Internal Diseases. The participants were also selected from our previous study [18]. Those patients with severe kidney and liver diseases, with infections, with untreated thyroid disorders, that are nonsmokers, with skin ulcerations during CTD, and without supplementation of minerals and vitamins were selected to the study.…”

Association Between Methylation Levels of LPL, ADRB3 and MTHFR Genes in Leukocytes from Individuals with Isolated or Associated Morbidities and Inflammation: A Cross-Sectional Study

“…Alterations in the ADRB3 gene have an influence on metabolic and lipid disorders [63]. ADRB3 hypermethylation in adipose tissue of obese individuals has been linked to a greater susceptibility to visceral obesity and alteration in body fat distribution [64] and methylation in the promoter of the ADRB3 gene in visceral adipose tissue has been linked as a causal factor in the alteration waist-hip ratio, as well as the change in blood pressure in obese individuals [20].…”

β-3 adrenergic receptor gene polymorphisms are associated with gestational diabetes mellitus in a Chinese population

“…[12] The polymorphisms of the β-3AR gene proposed in our study, have been proved to play a significant role in bodyweight elevation and dyslipidaemias. [13,14] Investigator found that, in all genetic models with random effects except HTG model, it exhibited significant associations between type 2 diabetes and rs4994 polymorphism of the β-3AR gene in Asians. [15] However, the non-Asian population demonstrated no significant association in any genetic models with random effects.…”