中文摘要：

目的探讨增殖抑制基因第二内含子7个单核苷酸多态性位点与原发性高血压的相关性。方法筛选正常血压人群500名和原发性高血压患者930名,提取血中白细胞基因组DNA后设计特定的单核苷酸多态性引物进行定量多聚酶链反应,通过荧光定量方法确定该基因是否存在着某种特定的多态性位点。结果 7个不同的单核苷酸多态性中有3种即rs873457、rs2336384和rs4846085的基因型频率在正常血压组和原发性高血压组之间存在明显的差别（P〈0.05）,分别为TT∶TC∶CC=21.8%∶46.6%∶31.6%/22.5%∶53.0%∶24.5%、CC∶CA∶AA=21.8%∶46.8%∶31.4%/22.8%∶52.6%∶24.6%及TT∶TC∶CC=22.6%∶46.4%∶31.0%/23.4%∶51.8%∶24.7%,等位基因频率在正常血压组与原发性高血压组之间也存在明显差别（P〈0.05）,分别为T∶C=45.1%∶51.0%/49.0%∶51.0%、C∶A=45.2%∶54.8%/49.1%∶50.9%及T∶C=45.8%∶54.2%/49.1%∶50.6%,其余4个单核苷酸多态性位点在正常血压组和原发性高血压组之间不存在明显的差别。对不同性别进行分析后发现在男性正常血压组与原发性高血压组的7个单核苷酸多态性位点之间均存在着明显的差别（P〈0.05或P〈0.01）,而在女性正常血压组与原发性高血压组之间没有明显差别（P〉0.05）。相关性分析发现体质指数、年龄和基因型与血压之间存在着明显的相关性（P〈0.05）。在进行了年龄和性别调整后,回归分析发现体质指数和rs873457与血压密切相关。单倍体型分析发现C-G-A-A-A-C-C（以rs873457、rs2336384、rs1474868、rs4846065、rs4240897、rsrs2236055和rs873458为序）无论在总体人群、男性还是女性人群中,均存在着明显的差别（P〈0.01）。结论增殖抑制基因的基因多态性与高血压尤其是男性高血压之间存在着明显的差别。

英文摘要：

Aim To investigate the association between 7 single nucleotide polymorphisms in intron 2 of hyperplasia suppressor gene（HSG） and essential hypertension. Methods 500 normotensive subjects（NT group） and 930 essential hypertensive patients（EH group） were screened and DNA was acquired from white blood cells.Real-time quantitative PCR was used for the detection of 7 SNPs in intron 2 of HSG. Results The results showed that genotypes distribution and allelic frequency of rs873457,rs2336384 and rs4846085 were significantly different（P0.05） between EH group and NT group,TT∶TC∶CC=21.8%∶46.6%∶31.6%/22.5%∶53.0%∶24.5%（rs873457）,CC∶CA∶AA=21.8%∶46.8%∶31.4%/22.8%∶52.6%∶24.6%（rs2336384）,TT∶TC∶CC=22.6%∶46.4%∶31.0%/23.4%∶51.8%∶24.7%（rs4846085） for genotypes distribution frequency and T∶C=45.1%∶51.0%/49.0%∶51.0%（rs873457）,C∶A=45.2%∶ 54.8%/49.1%∶50.9%（rs2336384）,T∶C=45.8%∶54.2%/49.1%∶50.6%（rs4846085） for allelic frequency.When subgrouped by sex,the genotypes distribution and allelic frequency of all the SNP were significantly different in male（P0.05 or P0.01） but not in female groups（P0.05）.Correlation analysis indicated that body mass index（BMI）,age and genotype were related with essential hypertension.Logistic regression showed that BMI and rs873457 were closely associated with blood pressure after adjusting for age.The frequency of C-G-A-A-A-C-C haplotype was significantly higher in essential hypertensive patients verse control individuals,either in entire population,in male or female group（P0.01 for all）.As for other haplotypes,most of haplotypes were only significantly different in the entire population and male subjects. Conclusion The genetic variations of HSG may be associated with essential hypertension in male Chinese.