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。
Objective 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.
作者
马欣
李昊
侴海燕
Ma Xin;Li Hao;Chou Haiyan(Department of Stomatology, Henan Provincial People’s Hospital, Zhengzhou, Henan, 450003, China;Department of Plastic Surgery, Henan Provincial People’s Hospital, Zhengzhou, Henan, 450003, China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第4期371-375,共5页
Chinese Journal of Medical Genetics
基金
河南省科技攻关计划项目(132102310188)
河南省医学科技攻关计划项目(201203110、201203084)
河南省基础与前沿技术研究(142300410371).
