title: [Analysis of VDR gene polymorphism Fok1 in infertile women with endometriosis].
abstract: OBJECTIVE
  to evaluate the frequency of VDR gene polymorphism Fok1 in infertile women with endometriosis and Control and its relation to the disease.
  
  
  METHODS
  a case-control study that included 147 infertile women with endometriosis and 154 fertile women without endometriosis as Control. Fok1 polymorphism (rs10735810, T2C), which promotes a T/C exchange in exon 2 of the VDR gene, was identified by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), that involves the combination of amplification by PCR and digestion with restriction endonuclease. The χ2 test was used to compare allele and genotype frequencies between groups. All p-values were two-tailed and a p-value < 0.05 was considered statistically significant.
  
  
  RESULTS
  the TT, TC and CC genotype frequencies of VDR Fok1 polymorphism were 44.2%, 46.9% and 8.9% in infertile women with endometriosis and 41.6%, 50% and 8.4% in the Control Group. No significant difference was found (p=0.8), even when the patients were subdivided according to the stage of endometriosis (p=0.3 for minimal and mild endometriosis and p=0.2 for moderate and severe endometriosis). Alleles T and C were present, respectively, in 67.6% and 32.3% of infertile women with endometriosis (p=0.8), in 63.5% and 36.5% of women with minimal/mild endometriosis (p=0.5), in 72.5% and 27.5% of women with moderate/severe endometriosis (p=0.2), and in 66.6% and 33.4% of the Control Group. No statistically significant difference was found among any groups and the Control.
  
  
  CONCLUSIONS
  the results suggest that VDR gene polymorphism Fok1 does not confer genetic susceptibility to endometriosis-associated infertility in the Brazilian population.
authors.affiliation: Programa de Pós-Graduação (Doutorado), Centro de Reprodução Humana e Genética, Faculdade de Medicina do ABC, Santo André, SP, Brasil.
authors.forename: Fábia Lima
authors.initials: FL
authors.lastname: Vilarino
authors.forename: Bianca
authors.initials: B
authors.lastname: Bianco
authors.forename: Denise Maria
authors.initials: DM
authors.lastname: Christofolini
authors.forename: Tatiana Goberstein
authors.initials: TG
authors.lastname: Lerner
authors.forename: Caio Parente
authors.initials: CP
authors.lastname: Barbosa
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol