黑龙江地区PECAM-1多态性与慢性牙周炎的相关研究

Evaluation of PECAM-1 Gene Polymorphism with Periodontal Disease and Healthy Individuals in Heilongjiang

目的：探讨黑龙江地区血小板内皮细胞粘附分子1（platelet-endothelial cell adhesion molecule-1,PECAM-1）基因Val125Leu rs281865545位点多态性与慢性牙周炎的相关性。方法：选取2012年9月~2014年3月在哈尔滨医科大学附属口腔医院牙周科就诊的146例牙周炎患者,分为3个牙周炎病例组（轻度57例、中度53例、重度36例）和91例健康者（健康对照组）作为研究对象,基因组DNA提取自口腔颊粘膜拭子,采用多重单碱基延伸SNP分型技术（multiplex SNaPshot technique）对所有受试者PECAM-1基因rs281865545位点进行检测,比较两组间此位点基因型分布和等位基因频率的差异。结果：PECAM-1基因rs281865545位点各基因型（GG、GC、CC）分布均符合Hardy-Weinberg遗传平衡定律;PECAM-1基因rs281865545位点GG、GC、CC在牙周炎各组和健康对照组的分布频率分别为24.7%、52.7%、22.6%和13.2%、57.1%、29.7%,两组人群基因型分布频率差异无统计学意义;等位基因G、C在牙周炎组和健康对照组分布频率分别为51.0%、49.0%和41.8%、58.2%,两组人群的等位基因分布频率差异具有统计学意义（P〈0.05）。结论：PECAM-1基因rs281865545位点基因多态性与黑龙江地区慢性牙周炎的易感性不具有相关性,仍需对其进行深度研究来判断是否该位点可以作为牙周炎的基因诊断指标。

Objective： To investigate the possible genetic association of the Val125Leu polymorphism of the PE- CAM-1 gene and chronic periodontitis in Heilongjiang. Methods： Genomic DNA was isolated from oral mucosa of 146 periodontal patients （57 with mild , 53with moderate and 36 with severe chronic periodontitis） and 91 healthy individuals. Samples were genotyped and analyzed for the single--nucleotide polymorphisms （SNPs） of PECAM-1 using the multiplex SNaPshot technique. The differences of the genotype and allele frequencies were calculated and analyzed. Results： All genotypes distribution of the PECAM-1 rs281865545polymorphism were in Hardy--Weinberg equilibrium in both the cases and th6 controls; PECAM--1 rs281865545 GG, GC, and nCC genotype frequencies were 24.7%, 52.7%, 22.6% in case samples, and 13.2%, 57.1%, 29.7% in control samples, respectively. Two groups genotype frequencies distribution were not significantly different. The allele G, C distribution frequencies were 51.0% and 49.0% in the periodontitis group and 41.8%, 58.2% in the control group, a statistically difference was seen in the allele frequencies among the different groups （P〈0.05）. Conclusion： No significant association was found between the polymorphism tested and the subgroups of periodontitis, further research is still necessary to determine whether this polymorphism can be used as a genetic marker of periodontitis.