内皮型一氧化氮合酶基因G894T多态性与蒙古族原发性高血压合并卒中的关系

目的探讨内皮型一氧化氮合酶（eNOS）基因G894T多态性与蒙古族原发性高血压及原发性高血压合并卒中之间的关系。方法选择长期生活在内蒙古乌拉特后旗、三代血亲内无其他民族的蒙古族人群286例,其中原发性高血压合并卒中组70例,原发性高血压组104例,正常血压组112名。采用基质辅助激光解吸电离飞行时间质谱（MALDI-TOF MS）技术检测3组eNOS基因G894T多态性。结果原发性高血压合并卒中组eNOS基因G894T位点GG、GT＋TT基因型频率为75.7%、24.3%,G、T等位基因频率为86.4%、13.6%;原发性高血压基因型频率为81.7%、18.3%,等位基因频率为89.9%、10.1%;正常血压组基因型频率为93.8%、6.2%,等位基因频率为96.9%、3.1%。3组基因型频率及等位基因频率比较,差异均有统计学意义（χ2=12.240,OR=4.811,95%CI：1.879~12.318;χ2=14.175,OR=4.868,95%CI：1.990~11.909;χ2=7.358,OR=3.353,95%CI：1.346~8.351;χ2=8.647,OR=3.481,95%CI：1.448~8.372）,原发性高血压合并卒中组与原发性高血压组比较,差异均无统计学意义（χ2=0.601,OR=1.329,95%CI：0.646~2.734;χ2=0.993,OR=0.398,95%CI：0.720~2.709）。结论eNOS基因G894T多态性的T等位基因与蒙古族人群原发性高血压及原发性高血压合并卒中的发生可能相关。

Relationship between eNOS gene G894T polymorphism and essential hypertension complicating stroke in Mongolian patients

Objective To investigate the relationship between endothelial nitric oxide synthase （eNOS） gene G894T polymorphism and essential hypertension（EH） and hypertension complicating stroke in Mongolian patients. Methods The Mongolians who have lived in Inner Mongolia for a long time and who have no blood relations with other nationalities in three generations were selected. They were divided into EH complicating stroke （ n --= 70）, hypertensive （ n = 104）, and normotensive （ n = 112） groups. The eNOS G894T gene polymorphism in the 3 groups were detected with the Sequenom system. Results The frequencies of GG and GT ＋ TT genotypes of eNOS gene G894T were 75.7% and 24. 3% , and the frequencies of G and T alleles were 86.4% and 13.6% in the EH complicating stroke group; the frequencies of genotypes were 81.7% and 18. 3%, and the frequencies of alleles were 89. 9% and 10. 1% in the hypertension group; and the frequencies of genotypes were 93. 8% and 6. 2% , and the frequencies of alleles were 96. 9% and 3.1% respectively in the normotensive group. There were significant differences in the frequencies of genotypes and alleles among the EH complicating stroke, hypertensive, and normotensive groups （χ^2 = 12. 240, OR = 4. 811, 95% CI 1. 879 - 12. 318 ; χ^2 = 14. 175, OR =4. 868, 95% CI 1.990 -11.909;χ^2 = 7. 358, OR = 3. 353,95% CI 1.346 - 8. 351 ; χ^2 = 8. 647, OR = 3.481, 95% CI 1.448 - 8. 372）. There were no significant differences between the EH complicating stroke group and hypertensive group （χ^2=0.601, OR=1.329, 95% C10.646-2.734; χ^2 =0.993, OR=0.398, 95% CI0.720- 2. 709）. Conclusions The T allele of eNOS G894T gene polymorphism may be associated with the occurrence of EH and hypertension complicating stroke in Mongolian population.