Relationship between genotype for the cytochrome P450 CYP2D6 and susceptibility to ankylosing spondylitis and rheumatoid arthritis.
Relationship between genotype for the cytochrome P450 CYP2D6 and susceptibility to ankylosing spondylitis and rheumatoid arthritis.
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细胞色素 P450 CYP2D6 基因型与强直性脊柱炎和类风湿关节炎易感性之间的关系。
DOI：
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发表时间：
1996
影响因子：
27.4
通讯作者：
A. Daly
中科院分区：
文献类型：
--
作者：
C. Beyeler;M. Armstrong;H. Bird;J. Idle;A. Daly
确定细胞色素P450酶CYP 2D 6（一种多态酶）的特定基因型是否与强直性脊柱炎（AS）和类风湿性关节炎（RA）的易感性相关，或与这两种疾病的任何特定临床或家族特征相关。方法--对54例AS患者、53例RA患者和662名健康对照者进行了CYP 2D 6基因型测定。通过限制性内切酶Xbal的限制性片段长度多态性分析和两种单独的聚合酶链反应试验分析白细胞DNA中是否存在突变。结果：根据比值比（OR），具有两个失活CYP 2D 6等位基因的个体比对照组更易患AS（OR 2.71，95% CI 1.04 ~ 7.08），CYP 2D 6 B等位基因的作用更强（OR 4.11，95% CI 1.54 ~ 11.0）。RA和对照组的基因型和等位基因频率分布无显著差异。AS或RA（虹膜炎、银屑病、炎性肠病和类风湿结节、干燥性角结膜炎、胸膜炎、类风湿和抗核因子）的骨骼、皮肤外或家族特征与总体基因型之间无显著关系。结论--我们的研究结果表明，非活性CYP 2D 6等位基因，特别是CYP 2D 6 B等位基因的纯合性与AS的易感性之间存在适度的相关性。然而，我们的研究结果未能证明CYP 2D 6基因型和RA之间的遗传联系。
OBJECTIVES--To determine whether particular genotypes for the cytochrome P450 enzyme CYP2D6, a polymorphic enzyme, are associated with susceptibility to ankylosing spondylitis (AS) and rheumatoid arthritis (RA), or linked with any specific clinical or familial features of the two conditions. METHODS--CYP2D6 genotypes were determined in 54 patients with AS, 53 patients with RA, and 662 healthy controls. Leucocyte DNA was analysed for the presence of mutations by restriction fragment length polymorphism analysis with the restriction enzyme Xbal and by two separate polymerase chain reaction assays. RESULTS--On the basis of odds ratio (OR), individuals with two inactive CYP2D6 alleles were more susceptible to AS than controls (OR 2.71, 95% confidence interval (CI) 1.04 to 7.08), with a stronger effect for the CYP2D6B allele (OR 4.11, 95% CI 1.54 to 11.0). No significant differences in the distribution of overall genotypes and allele frequencies were observed between RA and controls. No significant relationships were found between the skeletal, extraskeletal or familial features of AS or RA (iritis, psoriasis, inflammatory enteropathy and rheumatoid nodules, kerato-conjunctivitis sicca, pleuritis, rheumatoid and antinuclear factors) and the overall genotype. CONCLUSIONS--Our findings suggest a modest association between homozygosity for inactive CYP2D6 alleles, particularly CYP2D6B alleles, and susceptibility to AS. However, our results fail to demonstrate a genetic link between CYP2D6 genotype and RA.