BackgroundDyslipidemia is a complex trait that is influenced by various genetic and environmental factors. While the exact cause of dyslipidemia is still unknown, some studies have shown that genetic factors such as single nucleotide polymorphisms (SNPs) have been primarily associated with dyslipidemia. Based on the available data, it appears that retinoid X receptor (RXR) genes are jointly or separately associated with lipid homeostasis and that SNPs may affect RXR gene functions in lipid metabolism. MethodsTo study the possible role of the RXR genes in genetic susceptibility of dyslipidemia, three selected polymorphisms, rs3132294 located in RXRA (RXR-alpha) gene and rs2651860 and rs1128977 located in RXRG (RXR-gamma) gene, were investigated in 391 individuals with the use of tetra-primer amplification refractory mutation system polymerase chain reaction (T-ARMS PCR) method. ResultsFor the rs3132294 SNP, the genotype frequencies in the case group were GG 58.5%, GA 33.2%, and AA 8.3%, and in the control group, they were GG 51.8%, GA 36.3%, and AA 11.9%. The genotype distribution of rs2651860 SNP in the case group were TT 43.2%, TG 52.1%, and GG 4.7%, and in the control group, they were TT 50.8%, TG 46.2%, and GG 3%. Genotype frequencies for the rs1128977 SNP in the case group were CC 34.7%, CT 47.6% and TT 17.7%, compared with CC 37.8%, CT 44.3%, and TT 17.9% in the control group. When the clinical characteristics of the case and control groups were stratified by allele carrier status for each SNP, the rs1128977 SNP was associated with increased levels of HDL-cholesterol, body mass index, waist circumference, and diastolic blood pressure (P< 0.05). In contrast, the alleles of the rs2651860 and rs3132294 SNP were not associated with an increased prevalence of dyslipidemia or clinical characteristics in the case group compared to the control group. ConclusionThe present study suggests that rs1128977 SNP in the RXRG gene may affect the clinical characteristics in cases. However, further genetics association studies on large samples are required to validate our findings.

Background Angiopoietin-like 3 (ANGPTL3)-deficiency due to loss-of-function variants are being reported to have a link with triglyceride (TG) level, and high-density lipoprotein cholesterol (HDL-C), and thereby affecting the risk of cardiovascular disease (CVD). Objective In the present study, we examined the association of rs10789117 in the ANGPTL 3 gene locus and the risk of CVD in the group of people who were part of the group of Mashhad-Stroke and Heart-Atherosclerotic-Disorders (MASHAD) cohort. Method 1002 cases with/without CVD following 10 years follow-up were recruited from the MASHAD cohort, followed by DNA extraction and genotyping. The association of the variant with CVD even and lipid profile was assessed using Univariate and Multivariate analysis. Result our data showed that CVD patients after 10 years follow up with AC/CC genotypes have been related to higher risk of CVD events compared to AA genotype (OR = 1.43, 95%CI = 1.01–2.02, P = 0.041) as well as its C allele with CVD risk (OR = 1.32, 95%CI = 1.06–1.72, P value = 0.038). Moreover, we realized that significant association between the variant and serum TG and HDL-C. Conclusion We demonstrated the potential value of g.14079A > C in ANGPTL3 in CVD, indicating further investigations of the emerging biomarker in a multi-center setting as a risk stratification biomarker in cardiovascular disease.