新疆哈萨克族原发性高血压与心钠素基因T2238C多态性的关系

The relationship between ANP gene T2238C polymorphism and essential hypertension in Xinjiang Kazakans

目的:探讨新疆哈萨克族心钠素基因第3外显子上ScaI酶切位点T2238C多态性与原发性高血压的关系。方法:选择收缩压≥140 mmHg(1 mmHg=0.133 kPa)和(或)舒张压≥90 mmHg的新疆哈萨克族原发性高血压患者313例(高血压组)和年龄、族别相匹配的血压正常者205例(正常对照组),采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)方法,分别进行心钠素基因T2238C多态性检测,分析高血压组和正常对照组中基因型及等位基因的频率分布及其与高血压的相关性。结果:新疆哈萨克族人心钠素基因T2238C位点存在TT、TC和CC 3种基因型和T、C 2种等位基因。3种基因型在高血压组和正常对照组中的频率分别为87.2%、11.2%、1.6%和91.2%、7.8%、1.0%。T和C等位基因的频率分别为92.8%,7.2%和95.1%,4.9%。基因型及等位基因的频率在2组间均差异无统计学意义(X2=2.013,P>0.05和X2=2.249,P>0.05)。控制了年龄、性别、体质指数等混杂因素后,C等位基因仍与高血压无相关性(β=-0.371,P>0.05),C/T比数比(OR)为0.69,95%CI为0.38-1.25。结论:新疆哈萨克族人心钠素基因T2238C存在基因变异,但该变异可能与哈萨克族人原发性高血压不相关。

Objective： To investigate the relationship between ANP gene T2238C polymorphism and essential hypertension in Xinjiang Kazakans. Method：We selected 313 essential hypertensive patients whose SBP≥140 mmHg and/or DBP≥90 mmHg and 205 normotensive subjects whose BP〈140/90 mmHg of Kazakans in Xinjiang. We measured their ANP gene T2238C polymorphism by PCR-RFLP and tested the association of this polymorphism with hypertension. Result： We had got three kinds of genotypes of T2238C, The distributed frequencies of TT.TC.CC Were 87.2% ,11.2% ,1.6% of hypertensive patients and 91.2% ,7.8% ,1.0% of controls respectively. The distributed frequencies of T and C allele were 92.8%,7.2% of hypertensive patients and 95. 1% ,4.9% of controls respectively. Both of genotypes and allele frequencies had no significant difference between the two groups （X^2=2.013 and X^2 2. 249, P〉0.05）. There was no association with 2238Cand hypertension（β=-0.371, P〉0.05）. Conclusion：There were three kinds of genotypes of ANP T2238C in Kazakans of Xinjiang. The study suggested the ANP T2238C polymorphism might not be associated with essential hypertension in Kazakans.