CAJ | 학술논문

目的：探讨ATP2B1基因单核苷酸多态性及基因-吸烟交互作用与原发性高血压的关联性。方法以医院资料为基础采用病例对照方法，分析哈尔滨医科大学附属第二医院1280例原发性高血压住院患者和1010名当地汉族健康体检对照者。使用德国QIAGEN公司试剂盒提取人血全基因组DNA，应用Snapshot技术检测ATP2B1基因rs17249754位点和对照位点rs6253单核苷酸多态性，利用SPSS 19.0统计软件进行数据分析。结果 ATP2B1基因rs17249754位点等位基因G的频率在病例组和对照组间的差异有统计学意义（OR＝1.223，95%CI：1.083～1.381，P＝0.001），调整性别、年龄、BMI、吸烟、饮酒后，差异有统计学意义（OR＝1.212，95%CI：1.070～1.373， P＝0.003）。对照位点rs6253等位基因频率在两组间的差异无统计学意义。在不同的生物学模式下，基因型频率的分布均表现出显著差异性：加性模型OR＝1.469，95%CI：1.121～1.925，P＝0.005；显性模型OR＝1.324，95%CI：1.029～1.704，P＝0.029；隐性模型OR＝1.123，95%CI：1.031～1.223，P＝0.008。病例组中，吸烟者所占的比例显著高于对照组（P＝0.005）。调整性别、年龄、BMI、饮酒后，基因位点rs17249754和吸烟的交互作用对原发性高血压的影响无统计学意义（OR＝1.024，95%CI：0.614～1.707）。结论 ATP2B1基因rs17249754位点单核苷酸多态性与北方汉族人群原发性高血压的易感性显著关联；基因与吸烟的交互作用未发现与原发性高血压相关联。
목적：탐토ATP2B1기인단핵감산다태성급기인-흡연교호작용여원발성고혈압적관련성。방법이의원자료위기출채용병례대조방법，분석합이빈의과대학부속제이의원1280례원발성고혈압주원환자화1010명당지한족건강체검대조자。사용덕국QIAGEN공사시제합제취인혈전기인조DNA，응용Snapshot기술검측ATP2B1기인rs17249754위점화대조위점rs6253단핵감산다태성，이용SPSS 19.0통계연건진행수거분석。결과 ATP2B1기인rs17249754위점등위기인G적빈솔재병례조화대조조간적차이유통계학의의（OR＝1.223，95%CI：1.083～1.381，P＝0.001），조정성별、년령、BMI、흡연、음주후，차이유통계학의의（OR＝1.212，95%CI：1.070～1.373， P＝0.003）。대조위점rs6253등위기인빈솔재량조간적차이무통계학의의。재불동적생물학모식하，기인형빈솔적분포균표현출현저차이성：가성모형OR＝1.469，95%CI：1.121～1.925，P＝0.005；현성모형OR＝1.324，95%CI：1.029～1.704，P＝0.029；은성모형OR＝1.123，95%CI：1.031～1.223，P＝0.008。병례조중，흡연자소점적비례현저고우대조조（P＝0.005）。조정성별、년령、BMI、음주후，기인위점rs17249754화흡연적교호작용대원발성고혈압적영향무통계학의의（OR＝1.024，95%CI：0.614～1.707）。결론 ATP2B1기인rs17249754위점단핵감산다태성여북방한족인군원발성고혈압적역감성현저관련；기인여흡연적교호작용미발현여원발성고혈압상관련。
Objective To investigate the association between polymorphism of ATP2B1 gene,its interaction with smoking and susceptibility of essential hypertension. Methods A case-control study was conducted to elucidate the role of ATP2B1 gene variants related to the risk of essential hypertension. Genomic DNA was extracted from peripheral blood leukocytes,using the QIAamp DNA Mini Kit(QIAGEN,Germany). Two SNPs,-rs17249754 and rs6253,were examined on 1 280 patients and 1 010 healthy controls,using a Snapshot method. Statistical analyses were performed with SPSS Windows software(version 19.0;SPSS,Chicago,IL). Results A significant difference was found in rs17249754 allele frequency between cases and controls(OR=1.223,95%CI:1.083-1.381,P=0.001). After adjustment for age,sex,BMI,smoking and drinking,the difference was still statistically significant(OR=1.212,95%CI:1.070-1.373,P=0.003). In addition,data from genotype distribution analysis under different models showed that appeared significant associations between ATP2B1 gene polymorphism and essential hypertension(additive model OR=1.469,95%CI:1.121-1.925,P=0.005;dominant model OR=1.324,95%CI:1.029-1.704,P=0.029;recessive model OR=1.123,95%CI:1.031-1.223,P=0.008). In this study,the proportion of smokers in cases was significantly higher than that in controls(P=0.005),but no associations between rs17249754-smoking interaction and essential hypertension were found after the adjustment for gender,age,BMI and alcohol consumption (OR=1.024,95%CI:0.614-1.707). Conclusion Our research findings showed that the polymorphism of ATP2B1 gene rs17249754 was significantly associated with the incidence of essential hypertension in Han population of northeastern China. However,the interaction between rs17249754 and smoking did not seem to have contributed to the occurrence of the essential hypertension.