title: Relationship between Vitamin D Receptor gene polymorphisms and the components of metabolic syndrome.
abstract: BACKGROUND
  The 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.
  
  
  METHODS
  Two 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.
  
  
  RESULTS
  Individuals 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.
  
  
  CONCLUSIONS
  Using 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.
authors.affiliation: Nutrition Department, School of Public Health, University of São Paulo, Av. Dr. Arnaldo 715, São Paulo, SP CEP 01246-904, Brazil.
authors.forename: Natielen Jacques
authors.initials: NJ
authors.lastname: Schuch
authors.forename: Vivian Cristina
authors.initials: VC
authors.lastname: Garcia
authors.forename: Sandra Roberta Gouvea Ferreira
authors.initials: SR
authors.lastname: Vívolo
authors.forename: Lígia Araújo
authors.initials: LA
authors.lastname: Martini
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D000886:Anthropometry; D001786:Blood Glucose / Q000032:analysis; D001794:Blood Pressure; D001938:Brazil; D008076:Cholesterol, HDL / Q000097:blood; D003430:Cross-Sectional Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007328:Insulin / Q000097:blood / Q000378:metabolism; D007333:Insulin Resistance / Q000235:genetics; D000078790:Insulin Secretion; D050417:Insulin-Secreting Cells / Q000378:metabolism; D016015:Logistic Models; D008297:Male; D024821:Metabolic Syndrome / Q000097:blood / Q000150:complications / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D012959:Socioeconomic Factors; D014280:Triglycerides / Q000097:blood; D014807:Vitamin D / Q000008:administration & dosage; D014808:Vitamin D Deficiency / Q000097:blood / Q000150:complications / Q000235:genetics
chemical_list: D001786:Blood Glucose; D008076:Cholesterol, HDL; D007328:Insulin; D018167:Receptors, Calcitriol; D014280:Triglycerides; D014807:Vitamin D