Department of Pharmacogenetics, Medical University of Lodz, Poland.
Arch Med Sci. 2011 Oct;7(5):864-9. doi: 10.5114/aoms.2011.25563. Epub 2011 Nov 8.
Systemic lupus erythematosus (SLE) is a complex, multifactor autoimmune disease. The studies on aetiopathogenesis of autoimmune diseases focus on the impact the genetically conditioned impairment of xenobiotic metabolism may exert. The knowledge of oxidation polymorphism in the course of SLE may be helpful in choosing more efficient and safer therapy. We determined whether there was an association between susceptibility to SLE and particularly to CYP2D6 genotypes.
The study was carried out in 60 patients with SLE and 129 healthy volunteers and all the subjects were of Polish origin. The samples were analysed for two major defective alles for CYP2D6 - CYP2D63 and CYP2D64 and one wild -type allele CYP2D6*1-by the polymerase chain reaction fragment length polymorphism (PCR-RFLP) metod with DNA extracted from peripheral blood.
No statistically significant differences in the incidence of CYP2D6 genotypes between the studied groups were found (p = 0.615). Risk (OR) of SLE development was 1.03 for the carriers of CYP2D63 allele and 1.48 for the subjects with CYP2D64 allele; but it was not statistically significant.
Increased occurrence of mutant alleles of the CYP2D6 gene in SLE patients and the calculated OR values could suggest the effect of these mutations on increased SLE development.
系统性红斑狼疮(SLE)是一种复杂的、多因素自身免疫性疾病。自身免疫性疾病发病机制的研究重点是遗传条件下对外源化学物质代谢损伤的影响。氧化多态性在 SLE 中的研究知识可能有助于选择更有效和更安全的治疗方法。我们确定了 SLE 易感性与 CYP2D6 基因型之间是否存在关联。
该研究在 60 名 SLE 患者和 129 名健康志愿者中进行,所有受试者均为波兰人。通过聚合酶链反应片段长度多态性(PCR-RFLP)方法,从外周血中提取 DNA,分析两个主要的 CYP2D6 缺陷等位基因 - CYP2D63 和 CYP2D64 以及一个野生型等位基因 CYP2D6*1。
在研究组之间,CYP2D6 基因型的发生率没有统计学差异(p = 0.615)。CYP2D63 等位基因携带者 SLE 发病的风险(OR)为 1.03,CYP2D64 等位基因携带者为 1.48,但无统计学意义。
SLE 患者 CYP2D6 基因的突变等位基因发生率增加,计算出的 OR 值提示这些突变可能增加 SLE 的发病风险。