Kamei Hidehiko, Ishihara Yuichi, Fuma Daisuke, Niwa Takafumi, Kamiya Yosuke, Yokoi Takamasa, Suzuki Mariyo, Izawa Ario, Mizutani Hiroki, Hayashi Jun-Ichiro, Sakaki Yoshiyuki, Noguchi Toshihide, Kojima Toshio
Department of Periodontology, School of Dentistry, Aichi Gakuin University, Nagoya, Japan; Comparative Systems Biology Team, Genomic Sciences Center, RIKEN, Yokohama, Japan.
Department of Periodontology, School of Dentistry, Aichi Gakuin University, Nagoya, Japan.
Arch Oral Biol. 2014 Jul;59(7):756-63. doi: 10.1016/j.archoralbio.2014.04.006. Epub 2014 Apr 20.
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).
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.
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.
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.
先前的研究表明，1型和2型白细胞介素-1（IL-1）受体（IL-1R1和IL-1R2）在牙周炎进展中起重要作用。我们研究了牙周炎与IL-1R1和IL-1R2基因（IL1R1和IL1R2）多态性之间的关联。
我们在24例侵袭性牙周炎（AgP）日本患者和24例牙周健康对照者中搜索IL1R1和IL1R2中的基因变异。在包含IL1R1和IL1R2所有外显子及相关外显子-内含子边界的基因组区域内鉴定出38个单核苷酸多态性（SNP）。使用等位基因类型、基因型和单倍型，在119例AgP患者和102例牙周健康对照者中研究了每个基因座与AgP的可能关联。
在对性别和吸烟状况进行加性模型校正后，AgP患者和对照者在IL-1R2的3个SNP（rs3819370、rs3218974和rs3218977）频率上存在显著差异（分别为p = 0.012、p = 0.008和p = 0.038），在加性模型中校正协变量后由2个SNP（rs3819370和rs3218974）构建的2个单倍型频率也存在显著差异（分别为p = 0.010和p = 0.011）。
AgP的遗传易感性位点可能位于IL1R2基因座内或其附近。需要在其他人群中进行进一步研究以证实这些结果。
