血栓素合酶基因Rs10487667多态性与新疆维吾尔族心肌梗死的关联

目的 分析血栓素合酶基因(CYP5A1)Rs10487667多态性与新疆维吾尔族心肌梗死(MI)的相关性.方法 采用聚合酶链反应-限制性片段长度多态性方法,对318例MI患者(MI组)和232名健康受试者(对照组)CYP5A1基因Rs10487667位点进行检测,同时进行血清血栓素(TXB2)水平测定.采用非条件多元logistic回归分析综合评价各因素与MI的关系.结果 CYP5A1基因Rs10487667在MI组和健康对照组中基因型频率分别为:GG型0.204(65/318)和0.155(36/232),GT型0.553(176/318)和0.466(106/232),TT型0.242(77/318)和0.379(88/232),两组GG基因型差异具有统计学意义(x2=12.193,P=0.002),且MI组G等位基因频率0.481(306/636)]高于对照组0.388(180/464)](x2=9.449,P=0.021),而GT和TT基因型差异无统计学意义(x2=0.699,P＞0.05);MI组血清TXB2水平(184.3±34.7)pg/ml]明显高于对照组(124.3±28.1)pg/ml],差异具有统计学意义(t=5.503,P=0.034);MI组和对照组GT+GG基因型TXB2水平分别为(164.21±22.56)、(134.26±19.83)pg/ml,均较TT基因型者分别为(113.67±54.23)、(98.54±13.11)pg/ml]增高,差异具有统计学意义(t值分别为5.433、5.108,P值均＜0.05).logistic回归分析显示,调整传统危险因素的干扰后,CYP5A1 G等位基因仍为MI的独立危险因素(OR=1.673;95%CI:1.020～2.156).结论 CYP5A1基因Rs10487667基因多态性和新疆维吾尔族MI的发生具有相关性,可能和基因变异导致的血清TXB2水平升高有关.

Association of Rs10487667 genetic polymorphism of thromboxane synthase with myocardial infarction in Uigur population of Xinjiang

Objective To investigate the association between the polymorphism of thromboxane synthase gene ( CYP5A1 ) and myocardial infarction (MI) of Uigur nationality patients in Xinjiang. Methods Rsl0487667 site polymorphism in CYP5A1 gene of 318 patients with MI ( MI group) and 232 healthy control subjects (control group ) were analyzed by polymerase chain reaction and restriction fragment length polymorphism. The serum thromboxane B2 ( TXB2 ) concentration was also detected in all subjects. The relationship of multiple factors and myocardial infarction was evaluated comprehensively by non-condition logistic regression analysis. Results The frequencies of CYP5A1 gene Rs10487667 site polymorphism in MI group and control group were: GG type 0. 204(65/318)and 0. 155(36/232) ,GT type 0. 553(176/318)and 0. 466( 106/232 ), TT type 0. 242 (77/318) and 0.379 (88/232), respectively. There was significant difference in frequencies of GG genotype (x2 = 12. 193,P= 0.002) between two groups and G allele frequency in MI group (0. 481 (306/636)) was significant higher than control group (0. 388 (180/464) )( x2 = 9. 449, P = 0. 021 ), but no difference in frequencies of GT and TT genotypes ( x2 = 0. 699, P ＞ 0. 05 )between controls and MI cases. There was significant difference in serum TXB2 level between MI((184.3±34. 7 ) pg/ml) and control ( ( 124.3 ± 28. 1 ) pg/ml) groups( t = 5.503, P = 0. 034). In the case and control group,the serum TXB2 level of the person with GT + GG genotype (( 164.21 ±22.56) and (134.26 ±19.83) pg/ml)) was significant higher than those of TT genotypes ((113.67 ± 54.23) and ( 98.54 ±13.11)pg/ml) ( t values were 5.433 and 5. 108, respectively, both P values ＜ 0. 05 ). Logistic regression analysis showed that the T allele of the CYP5A1 gene was one independent risk factor of MI( OR = 1. 673,95% CI: 1. 020 - 2. 156 ) after adjustment of risk factors. Conclusion Rs10487667 polymorphism in CYP5A1 gene might be a risk factor of MI in Uigur population in Xinjiang,which maybe related with the significant high serum TXB2 level.