PRDM16基因变异与新疆维吾尔族人原发性高血压的关联研究  

Association study ofPRDM16 gene polymorphisms with essential hypertension in Xinjiang Uygur population

作　　者：李南方[1] 王红梅[1] 毕云伟[1] 周玲[1] 姚晓光[1] 严治涛[1] 祖菲娅[1] 

机构地区：[1]新疆维吾尔自治区人民医院高血压科,新疆高血压诊断治疗研究中心,乌鲁木齐830001

出　　处：《中华医学遗传学杂志》2013年第6期716-720,共5页Chinese Journal of Medical Genetics

基　　金：新疆少数民族科技人才特殊培养计划项目（201123112）

摘　　要：目的探讨PRDM16基因功能区变异与新疆维吾尔族人原发性高血压的相关性。方法采用以流行病学调查为基础的病例一对照研究，在前期新疆和田地区流行病学调查建立的数据库中随机选取1299位维吾尔族人（包括480例高血压患者和819名对照）作为研究对象。首先在小样本（n=48）维吾尔族高血压患者中测序筛查PRDM16基因功能区的变异位点，并从中选取代表性变异位点应用TaqMan—PCR技术在大样本人群中进行基因型鉴定及病例一对照关联研究。结果在PRDM16基因功能区共筛查出23个变异位点。选取的PRDM16基因的4个代表性变异位点（rs2236518、rs2282198、rs2493292及rs870171）的基因型及等位基因频率分布在高血压组与正常血压组中的差异均无统计学意义（P〉0．05）。Logistic回归分析发现4个位点不是高血压病的危险因素（P〉0．05）。rs2236518、rs2282198、rs2493292及rs870171不同基因型间收缩压、舒张压水平差异无统计学意义（P〉0．05）。单倍型基因频率分布在高血压组与对照组中的差异无统计学意义（P〉O．05）。结论PRDM16基因变异可能与新疆维吾尔族原发性高血压不相关。Objective To assess the association of polymorphisms of PR domain containing 16 gene （PRDM16） with essential hypertension in ethnic Uygur population from Xinjiang, China. Methods Functional regions of the PRDM16 gene were sequenced in 48 Uygur subjects with essential hypertension selected from 480 hypertensive patients and 819 normotensive controls. Representative variations were genotyped with TaqMan-PCR method. Association of variations of PRDM16 gene with hypertension was analyzed. Results For the 4 genotyped representative variations （rs2236518, rs2282198, rs2493292 and rs870171）, no significant difference in genotype distribution and allele frequencies has been found between the patient and control groups （P 〈 0. 05）. By ANOVA analysis, none of the polymorphisms was significantly associated with systolic or diastolic blood pressure （P〈0.05）. Nor was significant difference in haplotypic frequencies between the two groups detected （P〉0. 05）. Conclusion We have found no association between the four polymorphisms （rs2236518, rs2282198, rs2493292 and rs870171） of the PRDM16 gene with essential hypertension in ethnic Uygur population from Xinjiang.

关 键 词：PRDM16基因 遗传多态性 维吾尔族 原发性高血压 

分 类 号：R544.1[医药卫生—心血管疾病]