title: [Association of vitamin D receptor gene polymorphism with type 1 diabetes mellitus in two Spanish populations].
abstract: OBJECTIVE
  In order to assess whether vitamin D receptor gene polymorphisms are involved in the genetic regulation of type 1 diabetes susceptibility, a case-control study was conducted in two Spanish populations with different genetic backgrounds.
  
  
  METHODS
  155 patients with childhood-onset type 1 diabetes and 280 healthy controls from Barcelona, and 89 patients and 116 controls from Navarre were studied for vitamin D receptor gene polymorphisms in peripheral blood DNA. Intron 8 (BsmI) and exon 2 (FokI) segments were amplified by PCR and sequenced to determine each corresponding genotype. Differences for allele, genotype and combined haplotype and genotype distribution between patients and controls within each population and between the two populations were analyzed.
  
  
  RESULTS
  BsmI genotype and allele frequencies showed a tendency towards increased bb genotype and b allele frequencies in Barcelona patients and the tendency was inverse in Navarre. FokI polymorphism distribution analysis showed a significant decrease in ff genotype (p = 0.016) in patients versus controls from Navarre. Combined genotypes showed homozygous bb/FF genotype to be increased in Barcelona patients (p = 0.04) whereas homozygous bb/ff genotype was decreased in Navarre patients (p = 0.02) versus their corresponding controls. BF haplotype frequency distribution between patients and controls was inverse and significantly different between Barcelona and Navarre (p = 0.04).
  
  
  CONCLUSIONS
  Combined genotypes for vitamin D receptor gene polymorphisms at intron 8 and exon 2 suggest that the more active form of vitamin D receptor gene (FF genotype) can be increased in Mediterranean diabetic patients whereas the less active form (ff genotype) can be decreased in those from Navarre. Our results suggest that, in both groups, the F allele of exon 2 VDR gene polymorphism may increase type 1 diabetes susceptibility.
authors.affiliation: Unidad de Investigación en Endocrinología y Nutrición Pediátricas, Servicio de Pediatría, Hospital Vall d'Hebron, Barcelona, Spain.
authors.forename: Gertrudis
authors.initials: G
authors.lastname: Martí
authors.forename: Laura
authors.initials: L
authors.lastname: Audí
authors.forename: Cristina
authors.initials: C
authors.lastname: Esteban
authors.forename: Miren
authors.initials: M
authors.lastname: Oyarzábal
authors.forename: María
authors.initials: M
authors.lastname: Chueca
authors.forename: Miquel
authors.initials: M
authors.lastname: Gussinyé
authors.forename: Diego
authors.initials: D
authors.lastname: Yeste
authors.forename: Mónica
authors.initials: M
authors.lastname: Fernández-Cancio
authors.forename: Pilar
authors.initials: P
authors.lastname: Andaluz
authors.forename: Antonio
authors.initials: A
authors.lastname: Carrascosa
mesh_terms: D016022:Case-Control Studies; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D013030:Spain / Q000453:epidemiology
chemical_list: D018167:Receptors, Calcitriol
vernacular_title: Asociación de los polimorfismos del gen del receptor de la vitamina D con la diabetes mellitus tipo 1 en dos poblaciones españolas.