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白塞病患者的细胞色素P450基因多态性

Cytochrome P450 polymorphisms in patients with Behcet's disease.

作者信息

Tursen Umit, Tamer Lulufer, Api Hale, Yildirim Hatice, Baz Kiymet, Ikizoglu Guliz, Atik Ugur

机构信息

Department of Dermatology, Faculty of Medicine, Mersin University, Mersin, Turkey.

出版信息

Int J Dermatol. 2007 Feb;46(2):153-6. doi: 10.1111/j.1365-4632.2007.02957.x.

Abstract

OBJECTIVES

Although the etiopathogenesis of Behcet's disease (BD) remains unknown, increased neutrophil functions such as chemotaxis, phagocytosis and excessive production of reactive oxygen species, including superoxide anion, may be responsible for the oxidative tissue damage observed in BD. Cytochrome P-450 are a multigene family of enzymes involved in the detoxification and occasional activation of a wide variety of chemicals. Our aim was to investigate CYP2C9 and CYP2C19 polymorphisms in patients with BD.

METHODS

Sixty-two subjects with BD and 107 healthy control subjects were enrolled in the study. Polymorphisms of CYP2C9 and CYP2C19 were performed by real-time PCR with a LightCycler instrument. We researched associations between CYP polymorphisms and BD.

RESULTS

The frequencies of wild-type and heterozygous CYP2C192 genotypes were 66.1% and 33.9% in the patients and 83.2% and 16.8% in the controls, respectively. There was a 2.53-fold increased risk of Behcet's disease in individuals with the CYP2C192 heterozygous genotype (OR = 2.53; 95% CI, 1.22-5.25) when compared with the control group. But the CYP2C92, CYP2C93 and CYP2C19*3 gene polymorphisms were not related to an increased risk of developing BD.

CONCLUSIONS

We observed that patients with BD presented with a higher prevalence of the heterozygous CYP2C19*2 genotype. Hereditary deficiencies of this enzyme activity may lead to an imbalance between pro- and antioxidant systems, resulting in the formation of excessive reactive oxygen species.

摘要

目的

尽管白塞病(BD)的发病机制尚不清楚,但中性粒细胞功能增强,如趋化性、吞噬作用以及包括超氧阴离子在内的活性氧过度产生,可能是BD中观察到的氧化组织损伤的原因。细胞色素P - 450是一个多基因酶家族,参与多种化学物质的解毒和偶尔的激活过程。我们的目的是研究BD患者中CYP2C9和CYP2C19基因多态性。

方法

62例BD患者和107例健康对照者纳入本研究。使用LightCycler仪器通过实时PCR检测CYP2C9和CYP2C19的多态性。我们研究了CYP基因多态性与BD之间的关联。

结果

BD患者中野生型和杂合子CYP2C192基因型的频率分别为66.1%和33.9%,对照组分别为83.2%和16.8%。与对照组相比,CYP2C192杂合子基因型个体患白塞病的风险增加2.53倍(OR = 2.53;95% CI,1.22 - 5.25)。但CYP2C92、CYP2C93和CYP2C19*3基因多态性与BD发病风险增加无关。

结论

我们观察到BD患者中杂合子CYP2C19*2基因型的患病率较高。这种酶活性的遗传性缺陷可能导致促氧化和抗氧化系统之间的失衡,从而导致过量活性氧的形成。

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