摘要目的 探讨人β-防御素-1(human β-defensin-1,DEFB1)基因5'非翻译区(5'untranslated region,UTR)-52G/A (rs1799946)、-44C/G (rs1800972)、-20G/A (rs11362)位点单核苷酸多态性(single nucleotide polymorphisms,SNPs)与河南汉族人群慢性牙周炎易感性的相关性.方法 选取2015年9月至2017年9月河南省人民医院(郑州大学人民医院)诊治的慢性牙周炎患者436例(慢性牙周炎组)和440名健康对照(健康对照组),提取两组受试者基因组DNA,利用PCR-测序技术检测DEFB1 5'UTR-52G/A、-44C/G、-20G/A三位点基因型分布,用卡方检验比较健康对照组与慢性牙周炎组间基因型、等位基因频率差异,用单因素Logistic分析慢性牙周炎的风险因素.结果 慢性牙周炎组与对照组比较,-52G/A、-20G/A基因型分布差异均无统计学意义(P＞0.05);-44C/G位点CC型、CG型及C、G等位基因频率差异均有统计学意义(P＜0.05),慢性牙周炎组CC基因型频率(82.1％)明显高于对照组(64.5％),CG型基因频率(14.4％)明显低于对照组(28.2％),GG型在两组之间差异无统计学意义(P＞0.05);单因素Logistic相关性分析显示CG型、GG型和等位基因G可能是慢性牙周炎的保护性因子.结论 河南汉族人群DEFB1 5'UTR-44C/G基因多态性与慢性牙周炎易感性具有相关性,且-44CG、GG基因型和G等位基因可能为河南省汉族人群慢性牙周炎的保护性因子,而-52G/A、-20G/A位点则无相关性.

abstractsObjective To investigate the association between the polymorphisms of 5'UTR-52G/A (rs1799946)、-44C/G (rs1800972)、-20G/A (rs11362) in DEFB1 gene with chronic periodontitis in Henan Han population.Methods Peripheral blood genomic DNA of 436 patients with chronic periodontitis and 440 healthy controls were extracted and subjected to PCR-Sequencing to determine the genotype of DEFB1 5'UTR-52G/A (rs1799946),-44C/G (rs1800972) and-20G/A (rs11362).The distribution of genotypes,allele frequencies and risk factors were analyzed by chi-square test and Logistic regression.Results There was no significant difference between healthy controls and chronic periodontitis in the genotype of-52G/A PCR-(rs1799946) and-20G/A (rs11362) (P＞ 0.05).While a significant difference was found between healthy controls and chronic periodontitis in-44C/G (rs1800972),the CC and CG genotype rate in the two groups were 64.5％,82.1％ and 28.2％,14.4％ respectively.One way logistic analysis showed that the CG、GG genotype and allele G might be a protective factor.Conclusions The DEFB1-44C/G (rs1800972) is associated with chronic periodontitis in Henan Han population,and the-44CG、GG genotype and G allele may be the protective factors of chronic periodontitis in Henan Han population.