ACE基因和CYP基因多态性与妊娠期高血压疾病的相关性研究

Angiotensin converting enzyme and aldosterone synthase gene polymorphism in patients with hypertensive disorder complicating pregnancy

目的探讨血管紧张素转换酶(ACE)基因插入/缺失(I/D)、醛固酮合成酶(CYP11B2)基因-344T/C位点突变多态性与妊娠期高血压疾病的相关关系。方法采用聚合酶链反应-限制性内切酶片段长度多态性技术(PCR-RFLP),分别检测87例妊娠期高血压疾病组和175例正常对照组ACE基因I/D、CYP11B2基因-344T/C突变位点的基因型。结果妊娠期高血压疾病组中ACE基因I/D的ID和DD基因型频率明显高于正常对照组,分别为41.4%和28.7%;相对于II基因型,携带ID和DD基因型人群患妊娠期高血压疾病的OR值分别为1.981和2.347;D等位基因频率也高于正常对照组为49.42%,差异有显著性;相对于I等位基因,D等位基因患妊娠期高血压疾病的OR值为1.737;妊娠期高血压疾病组CYP11B2基因-344T/C的TC和CC基因型频率分别为40.2%和17.2%;相对于TT基因型,携带TC和CC基因型人群患妊娠期高血压疾病的OR值分别为1.577和6.081;C等位基因频率为37.4%,相对于T等位基因,C等位基因患妊娠期高血压疾病的OR值为2.114;ACE和CYP11B2两组联合基因分析:相对于II-TT联合基因型,同时携带TC-DD联合基因型患妊娠期高血压疾病的OR值为6.019;CC-II、CC-ID、CC-DD联合基因型由于样本量小,不具有代表性,应加大样本量。其余联合基因型,差异均无显著性(P>0.05)。结论ACE基因中D等位基因及CYP11B2基因-344T点突变等位基因C可能增加妊娠期高血压疾病的遗传易感性;在妊娠期高血压疾病的发生中,ACE基因及CYP11B2基因可能共同对妊娠期高血压疾病的发生起作用。

【Objective】 To Investigate the relationship between polymorphism of an insertion /deletion （I/D） for angiotensin converting enzyme （ACE） genes and aldosterone synthase （CYP11B2） gene -344T/C mutation and hypertensive disorder in pregnancy. 【Methods】 A total of 87 patients with hypertensive disorder complicating pregnancy and 175 normal controls were surveyed. The genotype for I/D of ACE and -344T/C mutation of CYP11B2 were determined by polymerase chain reaction （PCR） and restriction fragment length polymorphism （RFLP）, respectively. 【Results】 The odds ratios （OR） calculated for those exposed to I/D genotype, DD genotype and D allele were 1.981, 2.347 and 1.737 respectively in ACE gene; OR calculated for those exposed to TC-genotype, CC-genotype and C allele were 1.577, 6.081 and 2.114 in CYP11B2 gene. In the same cases, the OR of combinational DD-TC gene was 6.019. The samples of II-CC、ID-CC gene and DD-CC gene were not enough. There was no statistical difference in other combination genes （P 0.05）.【Conclusion】 Site mutation allele gene of insertion （I）/ deletion （D） polymorphism for angiotensin converting enzyme （ACE） gene and -344T/C aldosterone synthase （CYP11B2） gene might increase the susceptibility of hypertensive disorder complicating pregnancy. It has a positive co-influence on the hypertensive disorder complicating pregnancy.