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[CYP1B1(4326C>G)、CYP2F1(c.14_15insC)、CYP2J2(-76G>T)和CYP2S1(13106C>T以及13255A>G)基因的多态性标记与吸烟和职业因素所致慢性呼吸道疾病的遗传易感性]

[Polymorphic markers of the CYP1B1 (4326C > G), CYP2F1 (c.14_15insC), CYP2J2 (-76G > T), and CYP2S1 (13106C > T and 13255A > G) genes and genetic predisposition to chronic respiratory diseases induced by smoking and occupational factors].

作者信息

Akhmadishina L A, Korytina G F, Victorova T V

出版信息

Genetika. 2011 Oct;47(10):1402-10.

PMID:22232929
Abstract

The contribution of the polymorphic markers of cytochrome P450 genes to respiratory diseases caused by smoking and occupational factors has been assessed. For this purpose, PCR-RFLP analysis of the CYP1B1 (rs1056836, 4326C > G), CYP2F1 (rs11399890, c.14_15insC), CYP2J2 (rs890293, -76G > T), and CYP2S1 (rs34971233, 13106C > T and rs338583, 13255A > G) gene polymorphisms has been performed. The analysis has shown that the polymorphic variants of the CYP1B1 (rs1056836, 4326C > G) and CYP2F1 (rs11399890, c. 14_15insC) genes may contribute to the development of occupational chronic bronchitis. The proportion of CYP1B1* 1*3 heterozygotes in the group of patients with occupational chronic bronchitis is considerably greater than in the group of healthy workers (69.16% versus 53.29%; chi2 = 5.94, P = 0.02, P(cor) = 0.04, OR = 1.97, the 95% CI is 1.13-3.42). Patients with occupational chronic bronchitis and healthy workers significantly differed from each other in the frequency distribution of the genotypes ofthe CYP2F1 (rs11399890, c.14_15insC) polymorphic marker (chi2 = 6.18, d.f = 2, P = 0.05). The frequency of the wild type/ins heterozygous genotype for the CYP2F1 gene is higher in healthy workers (36.08%) than in patients (22.22%) (chi2 = 5.48, P = 0.02, P(cor) = 0.04, OR = 0.51, the 95% CI is 0.28-0.90). No association has been found between the CYP2J2 (rs890293, -76G > T) or CYP2S1 (rs34971233, 13106C > T, P466L and rs338583, 13255A > G) gene polymorphisms and respiratory diseases.

摘要

已评估细胞色素P450基因多态性标记物对吸烟和职业因素所致呼吸系统疾病的影响。为此,对CYP1B1(rs1056836,4326C>G)、CYP2F1(rs11399890,c.14_15insC)、CYP2J2(rs890293,-76G>T)和CYP2S1(rs34971233,13106C>T以及rs338583,13255A>G)基因多态性进行了聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析。分析表明,CYP1B1(rs1056836,4326C>G)和CYP2F1(rs11399890,c.14_15insC)基因的多态性变体可能与职业性慢性支气管炎的发生有关。职业性慢性支气管炎患者组中CYP1B113杂合子的比例显著高于健康工人组(69.16%对53.29%;χ2 = 5.94,P = 0.02,P(校正)= 0.04,OR = 1.97, 95%置信区间为1.13 - 3.42)。职业性慢性支气管炎患者和健康工人在CYP2F1(rs11399890,c.14_15insC)多态性标记物基因型的频率分布上存在显著差异(χ2 = 6.18,自由度 = 2,P = 0.05)。CYP2F1基因野生型/插入杂合基因型在健康工人中的频率(36.08%)高于患者(22.22%)(χ2 = 5.48,P = 0.02,P(校正)= 0.04,OR = 0.51, 95%置信区间为0.28 - 0.90)。未发现CYP2J2(rs890293,-76G>T)或CYP2S1(rs34971233,13106C>T,P466L以及rs338583,13255A>G)基因多态性与呼吸系统疾病之间存在关联。

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