Caamaño José, Jaramillo Priscilla C, Lanas Cecilia, Lanas Fernando, Salazar Luis A
Laboratorio de Biología Molecular y Farmacogenética, Departamento de Ciencias Básicas, Universidad de La Frontera, Temuco, Chile.
Med Princ Pract. 2009;18(2):137-42. doi: 10.1159/000189812. Epub 2009 Feb 10.
To investigate the possible association between factor XII (F12) gene variant and the presence of coronary artery disease (CAD) in Chilean subjects.
A total of 112 unrelated patients with a diagnosis of CAD confirmed by angiography (33-74 years old) and 107 healthy controls (30-68 years old) were included in this study. PCR-RFLP was used to evaluate the 46C --> T polymorphism of the F12 gene.
The genotype distribution for the 46C --> T variant of the F12 gene in CAD patients (CC: 41%, CT: 39%, TT: 20%) and controls (CC: 38%, CT: 48%, TT: 14%) was comparable (p = 0.365). Similarly, the allelic frequency was equivalent (p = 0.833). The odds ratio for CAD associated with the mutated 46T allele was 1.06 (95% CI = 0.72-1.56) confirming the absence of an association.
This study showed that the F12 46C --> T gene polymorphism is not related to CAD in the studied population. However, this study is limited by its sample size and the use of controls not matched by age and sex.
研究智利人群中凝血因子Ⅻ（F12）基因变异与冠状动脉疾病（CAD）存在之间的可能关联。
本研究纳入了112例经血管造影确诊为CAD的无亲缘关系患者（33 - 74岁）和107例健康对照者（30 - 68岁）。采用聚合酶链反应 - 限制性片段长度多态性（PCR - RFLP）方法评估F12基因的46C→T多态性。
CAD患者中F12基因46C→T变异的基因型分布（CC：41%，CT：39%，TT：20%）与对照组（CC：38%，CT：48%，TT：14%）具有可比性（p = 0.365）。同样，等位基因频率也相当（p = 0.833）。与突变的46T等位基因相关的CAD优势比为1.06（95%可信区间 = 0.72 - 1.56），证实不存在关联。
本研究表明，在研究人群中F12基因46C→T多态性与CAD无关。然而，本研究受样本量以及未按年龄和性别匹配对照组的限制。
