S100A8基因多态性与侵袭性牙周炎易感性的相关研究  

The relationship between a nucleotide substitution of S100A8 gene and aggressive periodontitis

作　　者：李启艳[1] 赵红珊[2] 孟焕新[1] 张立[1] 徐莉[1] 陈智滨[1] 

机构地区：[1]北京大学口腔医学院牙周科,100081 [2]北京大学医学部基础医学院免疫学系,人类疾病基因研究中心

出　　处：《中华口腔医学杂志》2004年第3期181-184,共4页Chinese Journal of Stomatology

基　　金：国家自然科学基金 (3 0 2 714 11);国家高科技项目 863计划基金 (2 0 0 2AA2 170 91);教育部教育振兴行动计划特殊专项基金 (北京大学人类疾病基因研究中心 2 0 0 1 8)资助项目

摘　　要：目的　筛选S10 0A8基因上游调控区的单核苷酸多态性位点 ,研究其与侵袭性牙周炎易感性的关系。方法　提取 30例侵袭性牙周炎患者和 2 8名健康对照者的基因组DNA ,行聚合酶链(PCR)反应及PCR产物直接测序。结果　S10 0A8翻译起始位点上游 94bp处存在一个A→G的替换 ,该替换位于顺式作用元件———γ 干扰素反应元件。所有具有等位基因G的个体均为杂合子。两组基因型和等位基因的分布差异均无统计学意义 (2 3 2 %vs 35 7% ,11 7%vs 17 9% ,P >0 0 5 )。结论　初步研究显示 ,S10 0A8基因该位点的多态性与侵袭性牙周炎的易感性无明显相关性 ,但有必要扩大样本进一步研究。Objectives To screen polymorphisms in the upstream region of S100A8 gene and to detect whether the polymorphisms were associated with aggressive periodontitis. Methods Thirty aggressive periodontitis patients and twenty-eight healthy controls were recruited for the study with informed consent. All subjects were of Chinese descent and systemically healthy. The regions about 800 bp upstream from the ATG start codon in exon 2 of the S100A8 gene of 10 patients and 8 controls were amplified by polymerase chain reaction (PCR) and analyzed by direct sequencing. A single nucleotide polymorphism (SNP) at 94 bp upstream from the ATG start codon was selected,and then the shorter regions (about 250 bp upstream from the ATG start codon) of the rest subjects were also amplified by PCR and analyzed by direct sequencing. The frequency of the SNP and the distribution of the genotype were detected and compared between the two groups.Results A nucleotide substitution (A→G) at 94 bp upstream from the ATG start codon was demonstrated in Chinese,which was in a cis-acting element,named gamma interferon response element (γ-IRE) in intron 1 of S100A8 gene. All of the subjects that carried the polymorphism were heterozygous. There was no statistically significant difference in the frequency of allele 2 (corresponding to the nucleotide G) between patients and controls (11.7% vs. 17.9%,χ 2=0.887,P >0.05). The prevalence of the heterozygous genotype was 23.2% and 35.7%(χ 2=1.07, P >0.05) in patients and controls,respectively. Conclusions This is the first report that a nucleotide substitution of S100A8 gene was demonstrated in Chinese. The frequencies of allele 2 and heterozygous genotype were lower in patients,but there is no statistically significant difference between the aggressive periodontitis patients and healthy controls in this preliminary study.

关 键 词：S100A8基因 侵袭性牙周炎 基因多态性 遗传易感性 等位基因 

分 类 号：R781.4[医药卫生—口腔医学]