VDR-Taq Ⅰ、Fok Ⅰ位点多态性与宁夏人群结核易感性研究  

Genetic polymorphisms in VDR-Taq Ⅰand VDR-Fok Ⅰand susceptibility to tuberculosis among different populations in Ningxia , Peoples ’ Republic of China

作　　者：陈丹丹[1] 朱圭娜[1] 关光玉[2] Magda Ellis Donald P. McManus 杨玉荣[1] 

机构地区：[1]宁夏医科大学病原生物学与免疫学系,银川研究生750004 [2]宁夏疾病预防控制中心研究所 [3]澳大利亚新南威尔士州结核研究所 [4]澳大利亚昆士兰医学研究所传染病研究部

出　　处：《中国防痨杂志》2013年第8期566-572,共7页Chinese Journal of Antituberculosis

基　　金：NHMRC(National Health Medical Research Councils;APP1025166)

摘　　要：目的探讨维生素D受体(VDR)基因TaqⅠ、FokⅠ位点基因多态性与宁夏回族自治区人群肺结核易患性之间的关系。方法搜集宁夏南部8个地区2010年7—11月确诊的肺结核患者993例(简称"病例组"),其中男550例,女443例;同期选择来源地区,与病例组性别相同、民族相同、年龄相当、居住环境相匹配的确认无肺结核的健康人880名(简称"对照组"),其中男485名,女395名。将聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测VDR基因多态性的方法,应用于人群结核病易感性的病例-对照研究。用SPSS 16.0软件对检测结果进行数据统计,各基因型与结核易感性关系用单因素分析和多因素logistic回归分析,以P<0.05为差异有统计学意义。结果VDR-TT、Tt、tt基因型在病例组和对照组中分布频率分别为83.0%(815/982)、15.2%(149/982)、1.8%(18/982)和84.7%(739/872)、14.7%(128/872)、0.6%(5/872),病例组与对照组差异有统计学意义(χ2=6.15,P=0.046)。VDR-FF、Ff、ff基因型病例组和对照组分布频率分别为32.4%(316/976)、47.9%(468/976)、19.7%(192/976)和28.5%(245/861)、53.3%(459/861)、18.2%(157/861),病例组和对照组分布差异无统计学意义(χ2=5.41,P=0.067)。在显性基因模型中,VDR-(TT+Tt)、tt基因型病例组和对照组中分布频率分别为98.2%(964/982)、1.8%(18/982)和99.4%(867/872)、0.6%(5/872),病例组和对照组中分布差异有统计学意义(χ2=5.98,P=0.014;OR=0.98、3.19,95%CI=0.978～0.997、1.193～8.574);在纯合基因模型中VDR-(FF+ff)、Ff基因型在病例组和对照组中频率分别为52.0%(508/976)、48.0%(468/976)和46.7%(402/861)、53.3%(459/861),病例组和对照组分布差异有统计学意义(χ2=5.27,P=0.022;OR=1.12、0.89,95%CI=1.023～1.298、0.822～0.985)。结论在宁夏人群中,肺结核易患性可能与VDR-TaqⅠ、FokⅠ位点多态性有关联,VDR-(FF+ff)、tt基因型可能是罹患肺结核的危险因素,而VDR-(TT+Tt)、Ff基因型可能是保护因素。Objective This study aimed to explore the relationship between SNP polymorphisms in TaqⅠ and FokⅠ in the Vitamin D Receptor（VDR） gene and susceptibility to pulmonary tuberculosis（PTB） among the populations in Ningxia Hui Autonomous Region（NHAR）,P.R.of China.Methods The confirmed 993 PTB cases（550 males and 443 females） were recruited in different TB clinics of southern NHAR in 2010,who had been diagnosed according to WHO TB-diagnosis criteria,without any other co-infections.The 880 healthy matched controls,including 485 males and 395 females were recruited to match the sex,nationality,age and residential area of the TB cases.The detection of two SNPs（TaqⅠ,FokⅠ） in the VDR gene was demonstrated by use of polyme-rase chain reaction-restriction fragment length polymorphism（PCR-RFLP） analysis.All data were entered into the SPSS 16.0 software package.The population data were tested by the Hardy-Weinberg method and then multiple logistic regression models were used for further investigation of the risk gene SNPs in different genetic models,and included covariates that had shown association with disease in the univariate analysis.The significance value was determined within 95% confidential intervals with P0.05.Results The genotype frequencies of VDR-TT,Tt and tt were 83.0%（815/982）,15.2%（149/982）,1.8%（18/982） and 84.7%（739/872）,14.7%（128/872）,0.6%（5/872） in the case and control groups,respectively,with significant difference（χ2=6.15,P=0.046）.The genotype frequencies of VDR-FF,Ff and ff were 32.4%（316/976）,47.9%（468/976）,19.7%（192/976） and 28.5%（245/861）,53.3%（459/861）,18.2%（157/861） in the case and control groups,respectively,without any significant differences between the case and control groups.The genotype frequencies in the dominant model of VDR-（TT＋Tt）,tt were 98.2%（964/982）,1.8%（18/982） and 99.4%（867/872）,0.6（5/872） in the case and control groups with significantly different value（χ2=5.98,P=0.014） and a

关 键 词：结核 肺 遗传学 受体 骨化三醇 多态性 单核苷酸 疾病遗传易感性 病例对照研究 宁夏[回族自治区] 

分 类 号：R521[医药卫生—内科学]