Relationship between Vitamin D Receptor gene polymorphisms and the components of metabolic syndrome

Abstract

BackgroundThe Vitamin D Receptor gene (VDR) is expressed in many tissues and modulates the expression of several other genes. The purpose of this study was to investigate the association between metabolic syndrome (MetSyn) with the presence of VDR 2228570 C > T and VDR 1544410 A > G polymorphisms in Brazilian adults.MethodsTwo hundred forty three (243) individuals were included in a cross-sectional study. MetSyn was classified using the criteria proposed by National Cholesterol Educational Program - Adult Treatment Panel III. Insulin resistance and β cell secretion were estimated by the mathematical models of HOMA IR and β, respectively. The VDR 2228570 C > T and VDR 1544410 A > G polymorphisms were detected by enzymatic digestion and confirmed by allele specific PCR or amplification of refractory mutation.ResultsIndividuals with MetSyn and heterozygosis for VDR 2228570 C > T have higher concentrations of iPTH and HOMA β than those without this polymorphism, and subjects with recessive homozygosis for the same polymorphisms presented higher insulin resistance than those with the heterozygous genotype. There is no association among VDR 1544410 A > G and components of MetSyn, HOMA IR and β, serum vitamin D (25(OH)D3) and intact parathormone (iPTH) levels in patients with MetSyn. A significant lower concentration of 25(OH)D3 was observed only in individuals without MetSyn in the VDR 1544410 A > G genotype. Additionally, individuals without MetSyn and heterozygosis for VDR 2228570 C > T presented higher concentration of triglycerides and lower HDL than those without this polymorphism.ConclusionsUsing two common VDR polymorphism data suggests they may influence insulin secretion, insulin resistance an serum HDL-cholesterol in our highly heterogeneous population. Whether VDR polymorphism may influence the severity of MetSyn component disorder, warrants examination in larger cohorts used for genome-wide association studies.

Body composition and metabolic profile in adults with vitamin D deficiency

“…Some of these polymorphisms have been associated with type 2 diabetes and insulin secretion [50,51]. A relationship between the polymorphisms of the VDR gene and the metabolic syndrome components such as insulin secretion, insulin resistance, and low HDL-c has also been reported [52], which may be another reason for the high prevalence of metabolic alterations associated with vitamin D deficiency.…”

Association of vitamin D receptor gene polymorphisms with metabolic syndrome: a case–control design of population-based cross-sectional study in North China

“…Studies have also discussed VDR gene polymorphisms for associations with the components of MS, which suggest that two major VDR gene polymorphisms (BsmI and FokI) seemed to influence BMI, insulin resistance, and serum HDL cholesterol [24, 25]. However, little is known about the role of VDR gene polymorphisms in MS for Chinese population.…”

Beta Cell Function and the Nutritional State: Dietary Factors that Influence Insulin Secretion

“…This VDR-mediated effect of VitD on insulin synthesis and secretion is also unrelated to altered calcium homeostasis by VDR mutation. In humans, several VDR polymorphisms such as ApaI, BsmI, and TaqI are associated with impaired insulin secretion and glucose tolerance, and might therefore be risk factors for diabetes in humans [52][53][54]. Similarly, VDR polymorphisms in other species are associated with impaired insulin secretion [51,55], demonstrating the important role of VDR in the insulin secretory function of β-cells.…”