宁夏回族人群载脂蛋白E基因7个SNPs位点与原发性高血压的关联性

The correlation between 7 single nucleotide polymorphisms in apolipoprotein gene and essential hypertension in Hui Population in Ningxia

目的探讨宁夏回族人群载脂蛋白E基因7个单核苷酸多态性(SNPs)位点多态性与原发性高血压(EH)的关联性,旨在为高血压的早期预防提供理论依据。方法采用等位基因特异性扩增-聚合酶链反应、聚合酶链反应-限制性片段长度多态性等方法对109例EH患者(EH组)及221例健康个体(健康对照组)载脂蛋白E基因-219G>T、-491A>T、-427T>C、969C>G、548-551 G>A、2836 G>A共7个SNPs位点的多态性进行检测,组间基因型频数、等位基因频数的差异比较采用2检验。结果 EH组与健康对照组间,除2836 G>A外,其余6个位点基因型频数和等位基因频数差异无显著性,2836位点等位基因A在EH组中的频数(83.0%)高于健康对照组(47.5%,P<0.01),且OR(95%CI)为4.82(3.25～7.17),而等位基因G在EH组中的频数(17.0%)低于健康对照组(52.5%,P<0.01),且OR>(95%CI)为0.21(0.14～0.31)(P<0.01)。结论在宁夏回族人群中,2836位点等位基因A为易患EH的危险因子,而等位基因G为保护因子。

Objective To investigate the correlation between 7 single nucleotide polymorplisms （SNPs） of apoli- poprotein E（ApoE） gene and essential hypertension （EH） in Hui population in Ningxia, thus to provide evidences for EH prevention. Methods Polymerase chain reaction and restriction fragment length polymorphism and allele specific - poly- merase chain reaction were carried out to examine SNPs at -219, -491, -427, 969, 548, 541 and 2836 sites of ApoE gene, in 221 healthy individuals and 109 EH patients from Hui Population in Ningxia. Comparison of the gene frequency between EH patients （patient group） and healthy individuals （control group） was evaluated by Z2 test. Results There were significant differences in genotypic frequencies and allelic frequency of the Site 2836 between patient group and con- trol group（P 〈0. 01 ）. The frequency of A allele of Site 2836 was significantly higher （83.0%） in patient group than that in control group （47.5% , P 〈0. 01 ） with the OR （95% CI） of 4. 82 （3.25 -7.17）. Meanwhile, the frequency of G al- lele at Site 2836 was significantly lower （ 17. 0% ） in patient group than that in control group （52. 5%, P 〈0. 01 ）, with the OR （95% CI） of 0. 21 （0. 14 ＋ 0. 31 ）. Conclusion These findings suggest that the allele A at Site 2836 is a risk factor, while the allele G as protective factor of EH in Ningxia Hui population.