醛固酮合成酶基因多态性与小动脉顺应性的研究

目的探讨醛固酮合成酶（CYP11B2）基因-344C／T多态性与小动脉顺应性（C2）的关系及其临床意义。方法（1）用CVProfilorDO-2020动脉脉搏分析仪测量大小动脉顺应性,共224例,其中C2异常组123例,对照组101例。（2）用多聚酶链反应-限制性片段长度多态性分析方法检测CYP11B2基因-344C／T多态性。结果（1）C2异常组TT基因型、T等位基因频率均高于对照组,但差异无统计学意义（55．3％比41．6％,P〉0．05,75．6％比66．8％,P〉0．05）。（2）CC型与CT型合并分析,显示C2异常组TT型频率显著高于对照组（30．3％比18．8％,P〈0．05）。（3）协方差分析显示,与CT／CC型比较,TT型者C2显著降低。（4）Logistic回归分析表明,TT型是导致C2减退重要的基因型（P=0．043,OR=1．9395％ CI1．02～3．63）。结论CYP11B2基因-344C／T多态性与小动脉顺应性C2密切相关,TT型是C2减退的敏感基因型。

Relationship between the aldosterone synthase (CYP11B2)-344C/T polymorphism and small artery compliance

OBJECTIVE: To investigate the relationship between the aldosterone synthase (CYP11B2)-344C/T polymorphism and small artery compliance (C(2)). METHODS: C(2) was measured by CVProfilor DO-2020 in 224 subjects, including 123 subjects with an abnormal C(2) and 101 normal controls. Genotypes of CYP11B2 were determined by polymerase chain reaction-based restriction fragment length polymorphism analysis. RESULTS: The frequencies of the CYP11B TT genotype and T allele in subjects with an abnormal C(2) were slightly higher than in normal controls, but the differences did not reach statistical significance (55.3% vs 41.6%, P > 0.05, 75.6% vs 66.8%, P > 0.05. However, when CT was combined with CC, the frequency of TT in subjects with an abnormal C(2) was significantly higher than in normal controls (P < 0.05). By COANOVA, TT subjects had a lower C(2) than CT and CC subjects (P < 0.05). Logistic regression analysis revealed that TT genotype was associated with abnormal C(2) (P = 0.043, OR = 1.93 95% CI 1.02-3.63). CONCLUSIONS: The CYP11B-344C/T polymorphism is associated with small artery compliance, and TT subjects are susceptible to abnormality of small arterial compliance.