title: Interleukin-1 receptor gene variants are associated with aggressive periodontitis in the Japanese.
abstract: OBJECTIVE
  Previous studies have indicated that type-1 and type-2 interleukin-1 (IL-1) receptors (IL-1R1 and IL-1R2) play important roles in periodontitis progression. We investigated the association between periodontitis and polymorphisms in the IL-1R1 and IL-1R2 genes (IL1R1 and IL1R2).
  
  
  METHODS
  We searched for genetic variants in IL1R1 and IL1R2 in 24 Japanese patients with aggressive periodontitis (AgP) and 24 periodontally healthy controls. Thirty-eight single nucleotide polymorphisms (SNPs) were identified within genomic regions containing all exons and relevant exon-intron boundaries in IL1R1 and IL1R2. Possible associations of each gene locus with AgP were investigated in 119 AgP patients and 102 periodontally healthy controls using allelotypes, genotypes, and haplotypes.
  
  
  RESULTS
  Significant differences were noted in the frequencies of 3 SNPs in IL1R2 (rs3819370, rs3218974 and rs3218977) for AgPs and controls (p=0.012, p=0.008, and p=0.038, respectively), after adjustment for gender and smoking status in the additive model (p=0.016, p=0.007, and p=0.027, respectively) and 2 haplotypes (p=0.010 and p=0.011, respectively) constructed from 2 SNPs (rs3819370 and rs3218974) that showed the lowest p-values after adjustment of covariates in additive models.
  
  
  CONCLUSIONS
  A genetic susceptibility locus for AgP may lie within or close to the IL1R2 locus. Further studies in other populations are necessary to confirm these results.
authors.affiliation: Department of Periodontology, School of Dentistry, Aichi Gakuin University, Nagoya, Japan; Comparative Systems Biology Team, Genomic Sciences Center, RIKEN, Yokohama, Japan.
authors.forename: Hidehiko
authors.initials: H
authors.lastname: Kamei
authors.affiliation: Department of Periodontology, School of Dentistry, Aichi Gakuin University, Nagoya, Japan.
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Ishihara
authors.affiliation: Department of Periodontology, School of Dentistry, Aichi Gakuin University, Nagoya, Japan; Comparative Systems Biology Team, Genomic Sciences Center, RIKEN, Yokohama, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Fuma
authors.affiliation: Department of Periodontology, School of Dentistry, Aichi Gakuin University, Nagoya, Japan; Comparative Systems Biology Team, Genomic Sciences Center, RIKEN, Yokohama, Japan.
authors.forename: Takafumi
authors.initials: T
authors.lastname: Niwa
authors.affiliation: Department of Periodontology, School of Dentistry, Aichi Gakuin University, Nagoya, Japan.
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Kamiya
authors.affiliation: Department of Periodontology, School of Dentistry, Aichi Gakuin University, Nagoya, Japan.
authors.forename: Takamasa
authors.initials: T
authors.lastname: Yokoi
authors.affiliation: Department of Periodontology, School of Dentistry, Aichi Gakuin University, Nagoya, Japan.
authors.forename: Mariyo
authors.initials: M
authors.lastname: Suzuki
authors.affiliation: Department of Periodontology, School of Dentistry, Aichi Gakuin University, Nagoya, Japan.
authors.forename: Ario
authors.initials: A
authors.lastname: Izawa
authors.affiliation: Department of Periodontology, School of Dentistry, Aichi Gakuin University, Nagoya, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Mizutani
authors.affiliation: Department of Periodontology, School of Dentistry, Aichi Gakuin University, Nagoya, Japan.
authors.forename: Jun-Ichiro
authors.initials: J
authors.lastname: Hayashi
authors.affiliation: Comparative Systems Biology Team, Genomic Sciences Center, RIKEN, Yokohama, Japan.
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Sakaki
authors.affiliation: Department of Periodontology, School of Dentistry, Aichi Gakuin University, Nagoya, Japan.
authors.forename: Toshihide
authors.initials: T
authors.lastname: Noguchi
authors.affiliation: Comparative Systems Biology Team, Genomic Sciences Center, RIKEN, Yokohama, Japan; Health Support Center, Toyohashi University of Technology, Toyohashi, Japan. Electronic address: kojima@health.tut.ac.jp.
authors.forename: Toshio
authors.initials: T
authors.lastname: Kojima
mesh_terms: D000328:Adult; D010520:Aggressive Periodontitis / Q000235:genetics*; D000483:Alleles; D016022:Case-Control Studies; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007438:Introns; D007564:Japan; D008297:Male; D020641:Polymorphism, Single Nucleotide; D017472:Receptors, Interleukin-1 / Q000235:genetics*; D015375:Receptors, Interleukin-2 / Q000235:genetics*; D012307:Risk Factors
chemical_list: D017472:Receptors, Interleukin-1; D015375:Receptors, Interleukin-2
keywords: Genetic marker; Haplotype; IL1R2; Linkage disequilibrium