目的探讨E选择素基因单核苷酸多态性与原发性高血压的相关性。方法筛选健康对照人群500人(正常血压组)和高血压患者930例,提取血液白细胞基因组DNA后设计特定的引物,通过荧光定量聚合酶链反应确定E选择素基因的C602A和T1559C二个单核苷酸位点的多态性。结果正常血压组和高血压组的C602A基因型频率差异有统计学意义(P〈0.01)。CC、CA、AA基因型分别为26(5.2%)、20(4.O%)、454(90.8%)例和14(1.5%)、53(5.7%)、863(92.8%.)例。C等位基因频率之间的差异有统计学意义(P〈0.01)。C、A频率分别占7.2%、92.8%和4.4%、95.6%。男性正常血压组和高血压组的基因型频率差异有统计学意义(P〈0.05)。CC、CA、AA基因型分别为14(4.7%)、11(3.7%)、272(91.6%)例和l0(1.7%)、34(5.8%)、545(92.5%)例。女性除CC+CA外其他基因型频率差异均有统计学意义(均P〈0.01)。正常血压组和高血压组T1559C的Tr、TC、CC基因型频率分别为57(11.4%)、200(40.0%)、43(48.6%)例和66(7.1%)、354(38.1%)、510(54.8%)例;T、C频率分别占31.4%、68.6%和26.1%、73.9%,差异均有统计学意义(均P〈0.01)。男性正常血压组和高血压组的TI'、TC、CC频率分别为36(5.9%)、117(39.4%)、144(48.5%)和35(5.9%)、230(39.0%)、354(55.0%);等位基因T、C的频率分别占31.4%、68.6%和26.1%、73.9%,差异均有统计学意义(均P〈0.01)。女性的T1559C基因型和等位基因频率分布与血压无明显相关。结论C602A和T1559C多态性与原发性高血压之间存在着明显的相关性。性别分组后,C602A与男、女性均相关,T1559C仅与男性高血压患者相关。
Objective To investigate the possible genetic associations between the C602A and T1559C polymorphisms of E-selectin (SELE) and essential hypertension. Methods Essential hypertensive patients (n = 500) and healthy normotensive subjects ( n = 930) were screened for the genotypes C602A and T1559C by real-time quantitative polymerase chain reaction after DNA extraction to identify representative variations in the SELE gene. Results Normotensive subjects and hypertensive patients were significantly different with respect to the genotypes CC, CA and AA, 26(5.2% ), 20(4.0% ) and 454(90. 8% ) vs 14 (1.5%), 53 (5.7%) and 863 (92. 8% ) respectively of C602A. And the C-allele frequency was also significantly different between the NT and EH groups ( C,A =7. 2% , 92. 8% vs 4.4% , 95.6% ). When subgrouped by gender, frequency of CC, CA, AA between normotensive and essential hypertensive males was 14(4. 7%'), 11(3.7% ), 272(91.6% ) and 10(1.7% ), 34(5. 8% ), 545(92. 5% ), which differed significantly ( P 〈 0. 05), while in female groups, all the frequency of genotypes were significantly different ( P 〈 0. 01 ) except CC + CA. The additive model ( TT, TC, CC) of the T1559C genotype was significantly different between essential hypertensive and normotensive groups overall, 57 ( 11.4% ), 200 (40. 0% ), 43 (48.6%) and 66 (7.1%), 354 (38. 1% ), 510 (54. 8% ), respectively. The T-allele of hypertensivepatients significantly differed from normotensive subjects ( T, C = 31.4%, 68. 6% vs 26. 1%, 73.9% respectively). When subgrouped by gender, between the male NT and EH groups, the qq', TC and CC frequency of T1559C were 36(5.9% ), 117(39. 4% ), 144(48.5% ) and 35(5.9% ), 230(39.0% ), 354 (55.0%), and the frequency of T vs C was 31.4% vs 68. 6% and 26. 1% vs 73.9%, which were signifcantly different ( all P 〈 0. 01 ). As in female NT and EH groups, there were not significant differences existed at