Abstract：
OBJECTIVE: Azathioprine (AZA) is an effective immunosuppressant commonly used for malignancy and immune-mediated disorders. The association between genetic polymorphisms and AZA-induced adverse effects has not been elucidated. Hence this study aimed to evaluate the relationship between single nucleotide polymorphisms of ITPA (C94A) with azathioprine-induced adverse effects.
METHODS: A cross-sectional study was performed on 120 patients who were on AZA therapy for immunobullous disorders and inflammatory bowel disease (IBD). Eligible patients were enrolled from outpatient Departments of dermatology and medical gastroenterology and five mL of blood was collected after obtaining written informed consent. DNA extraction and genotyping were done by phenol-chloroform method and real-time polymerase chain reaction (RT-PCR), respectively.
RESULTS: The minor allele frequency of ITPA (A allele) was 30.8 %. The mutant genotypes of ITPA (C94A) were found to have no significant association with overall adverse effects in the South Indian patients on AZA therapy.
CONCLUSIONS: We report no significant association between ITPA rs1127354 genetic polymorphism and adverse effects in the South Indian patients on AZA therapy.
METHODS: A cross-sectional study was performed on 120 patients who were on AZA therapy for immunobullous disorders and inflammatory bowel disease (IBD). Eligible patients were enrolled from outpatient Departments of dermatology and medical gastroenterology and five mL of blood was collected after obtaining written informed consent. DNA extraction and genotyping were done by phenol-chloroform method and real-time polymerase chain reaction (RT-PCR), respectively.
RESULTS: The minor allele frequency of ITPA (A allele) was 30.8 %. The mutant genotypes of ITPA (C94A) were found to have no significant association with overall adverse effects in the South Indian patients on AZA therapy.
CONCLUSIONS: We report no significant association between ITPA rs1127354 genetic polymorphism and adverse effects in the South Indian patients on AZA therapy.
摘要：
目的：硫唑嘌呤（AZA）是一种有效的免疫抑制剂，通常用于恶性肿瘤和免疫介导的疾病。遗传多态性与AZA诱导的不良反应之间的关联尚未阐明。因此，本研究旨在评估ITPA（C94A）单核苷酸多态性与硫唑嘌呤诱导的不良反应之间的关系。
方法：对120例接受AZA治疗的患者进行了横断面研究。符合条件的患者来自皮肤科和内科胃肠病科的门诊部，并在获得书面知情同意后收集5mL血液。通过酚-氯仿法和实时聚合酶链反应（RT-PCR）进行DNA提取和基因分型，分别。
结果：ITPA（A等位基因）的次要等位基因频率为30.8%。在接受AZA治疗的南印度患者中，发现ITPA（C94A）的突变基因型与总体不良反应没有显着关联。
结论：我们报道ITPArs1127354基因多态性与AZA治疗南印度患者的不良反应之间没有显著关联。
方法：对120例接受AZA治疗的患者进行了横断面研究。符合条件的患者来自皮肤科和内科胃肠病科的门诊部，并在获得书面知情同意后收集5mL血液。通过酚-氯仿法和实时聚合酶链反应（RT-PCR）进行DNA提取和基因分型，分别。
结果：ITPA（A等位基因）的次要等位基因频率为30.8%。在接受AZA治疗的南印度患者中，发现ITPA（C94A）的突变基因型与总体不良反应没有显着关联。
结论：我们报道ITPArs1127354基因多态性与AZA治疗南印度患者的不良反应之间没有显著关联。
