Korytina G F, Akhmadishina L Z, Viktorova T V
Mol Biol (Mosk). 2010 Jan-Feb;44(1):33-41.
Chronic obstructive pulmonary disease is a multifactorial respiratory disorder. Members of the cytochrome P450 family catalyze the oxidative metabolism of exogenous chemicals and activate their substrates into reactive intermediates that may initiate lung injury. The aim of this study was to learn interethnic variation in frequency distribution patterns of CYP1B1 and CYP2F1 genes polymorphic markers and to analyse its association withchronic obstructive pulmonary disease. The polymorphic markers Leu432Val(CYP1B1) and c.14_15insC(CYP2F1) were studied at chronic obstructive pulmonary disease patients (Russian (N=169), Tatar (N=137)) and cases of healthy individuals (Russian (N=191), Tatar (N=198) and Bashkir (N=78)), residents of Bashkortostan by PCR-RFLP method. It was shown that the CYP2F1 gene genotype frequency distribution patterns differed between three ethnic groups (chi2 = 21.29, df=4, P = 0.0001), because of high frequency of c.14_15insC/c.14_15insC genotype in Tatars (6.38%). On the other hand, high frequency (39.74%) of normal/ c.14_15insC genotype was appeared in Bashkirs. Association analysis of CYP2F1 geneinsertion variant with chronic obstructive pulmonary disease have shown high frequency (87.5%) of normal allele in Tatars patients with very severe stage and manifestation of chronic obstructive pulmonary disease after 55 years (chi2 = 3.964, df=1, P = 0.046; OR = = 2.268). It was shown that allele and genotype frequency distribution of Leu432ValCYP1B1 gene not differed between Russian, Tatar and Bashkir ethnic groups. We did not find any association of Leu432Val CYP1B1 gene with chronic obstructive pulmonary disease.
慢性阻塞性肺疾病是一种多因素的呼吸系统疾病。细胞色素P450家族成员催化外源性化学物质的氧化代谢,并将其底物激活为可能引发肺损伤的反应性中间体。本研究的目的是了解CYP1B1和CYP2F1基因多态性标记频率分布模式的种族间差异,并分析其与慢性阻塞性肺疾病的关联。采用PCR-RFLP方法,对巴什基尔斯坦的慢性阻塞性肺疾病患者(俄罗斯族(N = 169)、鞑靼族(N = 137))以及健康个体(俄罗斯族(N = 191)、鞑靼族(N = 198)和巴什基尔族(N = 78))的多态性标记Leu432Val(CYP1B1)和c.14_15insC(CYP2F1)进行了研究。结果显示,三个种族群体之间CYP2F1基因的基因型频率分布模式存在差异(χ2 = 21.29,自由度= 4,P = 0.0001),这是因为鞑靼族中c.14_15insC/c.14_15insC基因型的频率较高(6.38%)。另一方面,巴什基尔族中正常/c.14_15insC基因型的频率较高(39.74%)。对CYP2F1基因插入变异与慢性阻塞性肺疾病的关联分析显示,55岁后处于极重度阶段且有慢性阻塞性肺疾病表现的鞑靼族患者中,正常等位基因的频率较高(87.5%)(χ2 = 3.964,自由度= 1,P = 0.046;OR = 2.268)。结果表明,俄罗斯族、鞑靼族和巴什基尔族之间Leu432Val CYP1B1基因的等位基因和基因型频率分布没有差异。我们未发现Leu432Val CYP1B1基因与慢性阻塞性肺疾病有任何关联。