中文摘要：

目的 考察醛脱氢酶（ALDH）的单核苷酸多态性（SNP）与系统性红斑狼疮（SLE）患者用环磷酰胺（CTX）后的不良反应之间的相关性.方法 共纳入93例用CTX的SLE患者,收集全血提取DNA,用DNA阵列质谱基因分型法对ALDH（ALDH1A1 rs6151031,ALDH2 rs671,ALDH3A1 rs2228100）进行基因分型;并分析上述基因型与CTX不良反应的相关性.结果相同剂量下,ALDH3A1 rs2228100突变纯合子（GG）患者用CTX后出现肝功能异常的风险显著高于CC/GC患者（P〈0.001,OR=20.59,95%CI：2.26 187.96）.结论 ALDH3A1 rs2228100突变与CTX肝毒性密切相关.

英文摘要：

Objective To investigate the relationship between aldehyde dehydrogenase （ALDH） polymorphisms and cyclophosphamide（CTX）-induced adverse effects in patients with systemic lupus erythematosus （SLE）. Methods Blood samples and clinical data were collected from a cohort of 93 unrelated Chinese SLE patients who received cyclophosphamide therapy. ALDH （ALDH1A1 rs6151031, ALDH2 rs671,ALDH3A1 rs2228100） genotypes were detected by MALDI-TOF mass spectrometry. The associations between polymorphisms of ALDH and cyclophosphamide-induced adverse effects were analyzed by Chi-square test. Results ALDH3A1 rs2228100 GG genotype was correlated with an increased risk of abnormal liver function in SLE patients with the same dose of CTX （P〈0.001, OR=20.59, 95%CI：2.26-187.96）. Conclusion ALDH3A1 rs2228100 mutant plays an important role in the incidence of hepatotoxicity, therefore genotyping of ALDH3A1 rs2228100 will be useful in the individualization of CTX therapy in SLE patients.