Taşkiran Pinar, Cam Sirri F, Sekuri Cevat, Tüzün Nurullah, Alioğlu Emin, Altintaş Nuray, Berdeli Afig
Department of Medical Biology and Genetics, Medicine Faculty of Celal Bayar University, Manisa, Turkey.
Turk Kardiyol Dern Ars. 2009 Oct;37(7):473-8.
Paraoxonase (PON1) is a high-density lipoprotein (HDL)-associated esterase that hydrolyses lipoperoxides. PON1 serves as a protective factor against oxidative modification of LDL, suggesting that it may play an important role in the prevention of atherosclerotic process. Research has focused on two polymorphisms: leucine (L allele) to methionine (M allele) substitution at codon 55, and glutamine (A allele) to arginine (B allele) substitution at codon 192.
We examined amino acid changes at codon 55 and 192 in the PON1 gene by polymerase chain reaction and using restriction enzymes in 120 patients (92 men, 28 women; mean age 48.2+/-4.3 years) with premature coronary artery disease (CAD) and in 102 healthy subjects (80 men, 22 women; mean age 46.8+/-5.2 years) with no history of CAD and a normal electrocardiogram.
Distribution of genotypes in the patient and control groups at codon 55 were 6.7% and 4.9% for MM, 46.7% and 29.4% for LM, 46.7% and 65.7% for LL, respectively. The frequency of genotypes at codon 192 were as follows: 4.2% and 2% for RR, 40% and 35.3% for QR, and 55.8% and 62.8% for QQ, respectively. While the frequency of PON1 55M allele was higher in the CAD group (0.3 vs. 0.2), PON1 192R allele frequency did not differ (p>0.05). There was a significant relationship between the PON1 M/L55 polymorphism and CAD (p=0.017), whereas the R/Q192 polymorphism was not associated with CAD (p=0.445).
These data suggest that the PON1 M/L55 polymorphism shows a significant relationship with CAD and the Q/R192 polymorphism is not a major risk factor causing susceptibility to CAD in our population.
对氧磷酶（PON1）是一种与高密度脂蛋白（HDL）相关的酯酶，可水解脂质过氧化物。PON1是防止低密度脂蛋白（LDL）氧化修饰的保护因子，表明其可能在预防动脉粥样硬化过程中发挥重要作用。研究主要集中在两个多态性位点：第55位密码子处的亮氨酸（L等位基因）被甲硫氨酸（M等位基因）取代，以及第192位密码子处的谷氨酰胺（A等位基因）被精氨酸（B等位基因）取代。
我们采用聚合酶链反应并使用限制性内切酶，检测了120例早发冠心病（CAD）患者（92例男性，28例女性；平均年龄48.2±4.3岁）以及102例无CAD病史且心电图正常的健康受试者（80例男性，22例女性；平均年龄46.8±5.2岁）的PON1基因第55和192位密码子处的氨基酸变化。
第55位密码子处患者组和对照组的基因型分布分别为：MM型6.7%和4.9%，LM型46.7%和29.4%，LL型46.7%和65.7%。第192位密码子处的基因型频率如下：RR型4.2%和2%，QR型40%和35.3%，QQ型55.8%和62.8%。虽然CAD组中PON1 55M等位基因频率较高（0.3对0.2），但PON1 192R等位基因频率无差异（p>0.05）。PON1 M/L55多态性与CAD之间存在显著相关性（p=0.017），而R/Q192多态性与CAD无关（p=0.445）。
这些数据表明，PON1 M/L55多态性与CAD显著相关，而Q/R192多态性不是导致我们人群易患CAD的主要危险因素。
