四个E-选择素基因的多态性与哈尼族原发性高血压相关性研究

目的探讨E－选择素基因rs3917408G／T、rs5361A／C、rs5368C／T和rs3917429C／T等4个错义突变与哈尼族原发性高血压的关系。方法采用PCR测序技术，对云南哈尼族172例原发性高血压患者和133例正常对照的E－选择素基因的rs3917408G／T、rs5361A／C、rs5368C／T和rs3917429C／T突变进行检测。结果在哈尼族原发性高血压组，rs3917408T、rs5361C、rs5368T和rs39t7429T等位基因频率分别为2％、7％、28．8％和6．1％，正常对照组相应的等位基因频率分别为4％、4．9％、21．8％和1．1％，其中原发性高血压组rs3917429位点T等位基因频率显著高于正常对照组（P〈0．01），其余突变点两组之间的等位基因频率比较差异均无显著性（P〉0．05）。结论E－选择素基因rs3917429位点T等位基因与哈尼族原发性高血压相关。

Association between E-selectin gene polymorphism and essential hypertension in Hani minority

Objective:To investigate the association between four missense mutation in E-selectin gene including rs3917408 G/T,rs5361 A/C,rs3917429 C/T and rs5355 C/T and essential hypertension in Hani minority.Methods:E-selectin genotyped by sequence was performed in 133 normotensive subjects and 172 essential hypertensive subjects.Results:The allele frequency of the four studied polymorphism in normotensive controls and essential hypertensive cohort in Hani population were rs3917408 T:0.004vs.0.020;rs5361 C:0.049 vs 0.070;rs5368 T:0.218 vs.0.288;rs3917429 T:0.011 vs.0.061,respectively.The frequency of rs3917429 T allele in the essential hypertensive group was significantly higher than that in the normotensive controls(P<0.01).No significant difference was found between the two groups in the other loci.Conclusion:The rs3917429 T allele of the E-selectin gene may play a role in genetic predisposition to developing essential hypertension in Hani minorities.