title: The short vitamin D receptor is associated with increased risk for generalized aggressive periodontitis.
abstract: BACKGROUND
  Generalized aggressive periodontitis (GAP) exhibits severe inflammation and alveolar bone loss. Vitamin D receptor (VDR) regulates both bone metabolism and inflammation-related genes, and its polymorphisms and haplotypes may affect the functional activity of the VDR protein in GAP.
  
  
  OBJECTIVE
  We analysed the genetic effect of VDR start codon, intron, and exon polymorphisms, and their haplotypes on the development of GAP.
  
  
  METHODS
  The VDR start codon 27823C > T (rs2228570, FokI), intron 8 60890G > A (rs154410, BsmI), and exon 9 61968T > C (rs731236, TaqI) polymorphisms were determined by using the polymerase chain reaction-restriction fragment length polymorphism analysis among 93 GAP patients and 143 healthy controls.
  
  
  RESULTS
  The VDR start codon 27823*C/*C genotype was associated with an increased risk for GAP [odds ratio (OR) = 1.83, p = 0.028], but the intron 8 60880G > A and exon 9 61968T > C polymorphisms were not associated with GAP. The VDR haplotype homozygote ht1(C-G-T) carrying 27823*C allele was associated with a 1.8-fold increased risk of GAP (OR = 1.84, p = 0.030).
  
  
  CONCLUSIONS
  These results demonstrate that the short VDR (27823*C/*C) protein may influence GAP susceptibility.
authors.affiliation: Department of Biology, Sungshin Women's University, Seoul, Korea. kspark@sungshin.ac.kr
authors.forename: Kyung Sook
authors.initials: KS
authors.lastname: Park
authors.forename: Jung Hyun
authors.initials: JH
authors.lastname: Nam
authors.forename: Jeomil
authors.initials: J
authors.lastname: Choi
mesh_terms: D000225:Adenine; D000328:Adult; D016301:Alveolar Bone Loss / Q000145:classification; D003062:Codon / Q000235:genetics; D003596:Cytosine; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006147:Guanine; D006239:Haplotypes / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D017622:Periodontal Attachment Loss / Q000145:classification; D010518:Periodontitis / Q000145:classification / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D018167:Receptors, Calcitriol / Q000235:genetics*; D012307:Risk Factors; D013941:Thymine
chemical_list: D003062:Codon; D018167:Receptors, Calcitriol; D006147:Guanine; D003596:Cytosine; D000225:Adenine; D013941:Thymine