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。 Objective To investigate the association of seven single nucleotide polymorphisms (SNPs) of the second intron of proliferation inhibitory factor with essential hypertension. Methods 500 patients with normotensive subjects and 930 patients with essential hypertension were enrolled in the study. Genomic DNA from blood leukocytes was extracted and specific single nucleotide polymorphism (SNP) primers were designed for quantitative polymerase chain reaction (PCR). Fluorescent quantitative methods were used to determine whether the gene exists A specific polymorphism site. Results The genotype frequencies of rs873457, rs2336384 and rs4846085 in three different SNPs were significantly different between normotensive group and primary hypertension group (P <0.05), respectively 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% : TC: CC = 22.6%: 46.4%: 31.0% / 23.4%: 51.8%: 24.7%. There was also a significant difference in allele frequency between normotensive and essential hypertension groups (P <0.05) Respectively, T: C = 45.1%: 51.0% / 49.0%: 51.0%, C: A = 45.2%: 54.8% / 49.1%: 50.9% and T: C = 45.8%: 54.2% / 49.1%: 50.6% The other four SNPs showed no significant difference between normotensive and essential hypertension groups. After analysis of different genders, there were significant differences (P <0.05 or P <0.01) between the seven single nucleotide polymorphisms in the male normal and the essential hypertension groups There was no significant difference between female normotensive group and essential hypertension group (P> 0.05). Correlation analysis found that there was a significant correlation between body mass index, age and genotype and blood pressure (P <0.05). After adjusting for age and gender, regression analysis found that body mass index and rs873457 were closely related to blood pressure. Haplotype analysis showed significant differences (P <0.01) between C-G-A-A-C-C and rs873457, rs2336384, rs1474868, rs4846065, rs4240897, rsrs2236055 and rs873458 in the overall population, male or female population. Conclusion There is a clear difference between gene polymorphism of proliferation suppressor gene and hypertension, especially male hypertension.