Genetics and Biotechnology Research Institute, University of Sistan and Baluchestan, Zahedan, Iran.
Mol Biol Rep. 2012 Feb;39(2):937-43. doi: 10.1007/s11033-011-0819-x. Epub 2011 May 15.
Paraoxonase-1 (PON1), a high-density lipoprotein (HDL) associated enzyme, is involved in the metabolism and detoxification of insecticides and pesticides. Three polymorphisms within the PON1 gene affect the enzyme activity. Two of these (L55M and Q192R) are located at the coding region and the third (-107C/T) is in promoter region. We performed a case-control study in order to elucidate the possible contribution of variability within PON1 at three mentioned positions to the risk of MS in a South-East Iranian population. DNA was isolated from peripheral blood of patients (N = 119) with MS and healthy controls (N = 201). Allelic polymorphisms at positions Q192R, L55M and -107C/T in the PON1 gene were studied by Amplification Refractory Mutation System (ARMS)-PCR. It was observed that genotypes RR and QR + RR of Q192R locus significantly increased the risk of MS (OR = 2; 95% CI: 1.17-3.40, P = 0.0001 and OR = 1.62; 95% CI: 1.0-2.63; P = 0.05, respectively). The risk in patients with MM and LM + MM genotypes at the L55M locus was marginal (OR = 1.33; 95% CI: 0.68-1.85; P = 0.34 and OR = 1.12; 95% CI: 0.68-1.85; P = 0.73 respectively). The CC genotype at -107C/T locus also increased the risk of metabolic syndrome, but was not significant. This association was somewhat stronger when combined genotypes at Q192R and L55M loci were analyzed (OR = 3.30; 95% CI: 1.34-8.24; P = 0.007). Our results, in this first study, provide evidence for association of PON1 gene polymorphisms with the risk for metabolic syndrome.
对氧磷酶 1（PON1）是一种高密度脂蛋白（HDL）相关酶，参与杀虫剂和农药的代谢和解毒。PON1 基因内的三个多态性影响酶活性。其中两个（L55M 和 Q192R）位于编码区，第三个（-107C/T）位于启动子区。我们进行了一项病例对照研究，以阐明 PON1 基因在三个位置的变异性对伊朗东南部人群多发性硬化症风险的可能贡献。从多发性硬化症患者（N=119）和健康对照者（N=201）的外周血中分离 DNA。采用扩增受阻突变系统（ARMS）-PCR 研究 PON1 基因 Q192R、L55M 和-107C/T 位置的等位基因多态性。结果观察到，Q192R 基因座的 RR 和 QR+RR 基因型显著增加了多发性硬化症的风险（OR=2；95%CI：1.17-3.40，P=0.0001 和 OR=1.62；95%CI：1.0-2.63；P=0.05）。L55M 基因座上 MM 和 LM+MM 基因型的患者风险略有增加（OR=1.33；95%CI：0.68-1.85；P=0.34 和 OR=1.12；95%CI：0.68-1.85；P=0.73）。-107C/T 基因座的 CC 基因型也增加了代谢综合征的风险，但无统计学意义。当分析 Q192R 和 L55M 基因座的组合基因型时，这种关联稍强（OR=3.30；95%CI：1.34-8.24；P=0.007）。在这项首次研究中，我们的结果提供了证据，证明 PON1 基因多态性与代谢综合征风险有关。
