Tamer L, Tursen U, Eskandari G, Ates N A, Ercan B, Yildirim H, Atik U
Department of Biochemistry, Mersin University, Turkey.
Clin Exp Dermatol. 2005 Jan;30(1):56-60. doi: 10.1111/j.1365-2230.2004.01685.x.
It is possible that dietary, environmental factors and/or genetic polymorphisms in xenobiotic-metabolizing enzymes may contribute to the development of Behcet's disease. As N-acetyltransferase (NAT) 2 is an important xenobiotic-metabolizing enzyme and theoretically the nonacetylated xenobiotics may induce an autoimmune mechanism, the aim of the present study was to investigate whether the genetic polymorphism of NAT2 plays a role in susceptibility to Behcet's disease. Forty Behcet's disease patients and 82 control subjects were enrolled in the study. NAT25A, NAT26A, NAT27A/B and NAT214A polymorphisms were detected by using real time PCR with LightCycler (Roche Diagnostics GmbH, Mannheim, Germany). The NAT25A and NAT26A mutant genotypes carried an increased risk of developing Behcet's disease [odds ratio (OR) = 66.29, 95% confidence interval (CI) = 8.21-535.33; and OR = 24; 95% CI = 2.04-304.98, respectively]. The NAT27A/B and NAT214A gene polymorphisms were not an increased risk for developing Behcet's disease. As a result of this study we conclude the NAT2 slow acetylator status may be a determinant in susceptibility to Behcet's disease. This finding may have implications for the theories of the pathogenesis of the disease as well as for therapeutic aspects.
饮食、环境因素和/或外源性物质代谢酶的基因多态性可能与白塞病的发病有关。由于N-乙酰转移酶(NAT)2是一种重要的外源性物质代谢酶,且从理论上讲,非乙酰化的外源性物质可能诱发自身免疫机制,因此本研究旨在探讨NAT2基因多态性是否在白塞病易感性中发挥作用。本研究纳入了40例白塞病患者和82例对照受试者。采用德国曼海姆罗氏诊断有限公司的LightCycler实时荧光定量PCR技术检测NAT25A、NAT26A、NAT27A/B和NAT214A多态性。NAT25A和NAT26A突变基因型增加了患白塞病的风险[比值比(OR)分别为66.29,95%置信区间(CI)为8.21 - 535.33;以及OR = 24,95% CI = 2.04 - 304.98]。NAT27A/B和NAT214A基因多态性并未增加患白塞病的风险。通过本研究,我们得出结论,NAT2慢乙酰化状态可能是白塞病易感性的一个决定因素。这一发现可能对该疾病的发病机制理论以及治疗方面都有启示。