Department of Biosciences, COMSATS Institute of Information Technology, Park Road, Islamabad, 45600, Pakistan.
Mol Biol Rep. 2011 Apr;38(4):2541-8. doi: 10.1007/s11033-010-0392-8. Epub 2010 Nov 17.
A case-control association study on 229 Myocardial Infarction (MI) patients and 217 healthy controls was carried out to determine the role of tissue-plasminogen activator (t-PA) (Alu-repeat insertion (I)/deletion (D)) and plasminogen activator inhibitor (PAI-1) (4G/5G insertion/deletion) polymorphisms with MI in the Pakistani population. In MI patients the genotype distribution of the PAI-1 gene was not found to be different when compared with the unaffected controls (P>0.05, χ2=1.03). The risk allele 4G was also not associated with MI (P>0.05, χ2=0.46, odds ratio (OR)=1.1 (95% confidence interval (CI)=0.84-1.43), P>0.05). Similarly, the genotype frequencies of t-PA I/I, I/D and D/D were not different from the unaffected controls (P>0.05, χ2=1.60), and the risk allele "I" was not found to be associated with MI (P>0.05, χ2=1.35, OR=0.86 (95% CI=0.66-1.11), P>0.05). However, when the data were distributed along the lines of gender a significant association of the 4G/4G PAI-1 genotype was observed with only the female MI patients (P<0.05, z-test=2.21). When the combined genotypes of both the polymorphisms were analyzed, a significant association of MI was observed with the homozygous DD/4G4G genotype (P<0.01, z-test=2.61), which was specifically because of the female samples (P=0.01, z-test=2.53). In addition smoking (P<0.001, χ2=13.52, OR=3.45 (95% CI=1.77-6.94)), diabetes (P<0.001, χ2=22.45, OR=8.89 (95% CI=2.96-29.95)), hypertension (OR=7.76 (95% CI=2.88-22.68), P<0.001) family history (P<0.001, χ2=13.72, OR=3.7 (95% CI=1.71-8.18)) and lower HDL levels (P<0.05) were found to be significantly associated with the disease. In conclusion the PAI-1 gene polymorphism was found to have a gender specific role in the female MI patients.
在巴基斯坦人群中，进行了一项针对 229 名心肌梗死（MI）患者和 217 名健康对照的病例对照关联研究，以确定组织纤溶酶原激活物（t-PA）（Alu 重复插入（I）/缺失（D））和纤溶酶原激活物抑制剂（PAI-1）（4G/5G 插入/缺失）多态性与 MI 的关系。在 MI 患者中，与未受影响的对照组相比，PAI-1 基因的基因型分布没有发现差异（P>0.05，χ2=1.03）。风险等位基因 4G 也与 MI 无关（P>0.05，χ2=0.46，比值比（OR）=1.1（95%置信区间（CI）=0.84-1.43），P>0.05）。同样，t-PA I/I、I/D 和 D/D 的基因型频率与未受影响的对照组也没有差异（P>0.05，χ2=1.60），并且未发现风险等位基因“I”与 MI 相关（P>0.05，χ2=1.35，OR=0.86（95%CI=0.66-1.11），P>0.05）。然而，当根据性别分布数据时，仅在女性 MI 患者中观察到 4G/4G PAI-1 基因型与 MI 显著相关（P<0.05，z 检验=2.21）。当分析两种多态性的组合基因型时，发现 MI 与纯合子 DD/4G4G 基因型显著相关（P<0.01，z 检验=2.61），这主要是因为女性样本（P=0.01，z 检验=2.53）。此外，吸烟（P<0.001，χ2=13.52，OR=3.45（95%CI=1.77-6.94））、糖尿病（P<0.001，χ2=22.45，OR=8.89（95%CI=2.96-29.95））、高血压（OR=7.76（95%CI=2.88-22.68），P<0.001）、家族史（P<0.001，χ2=13.72，OR=3.7（95%CI=1.71-8.18））和较低的高密度脂蛋白水平（P<0.05）与该疾病显著相关。总之，PAI-1 基因多态性在女性 MI 患者中表现出性别特异性作用。
