DataSheet1_SLC7A8 coding for LAT2 is associated with early disease progression in osteosarcoma and transports doxorubicin.DOCX

Background: Despite (neo) adjuvant chemotherapy with cisplatin, doxorubicin and methotrexate, some patients with primary osteosarcoma progress during first-line systemic treatment and have a poor prognosis. In this study, we investigated whether patients with early disease progression (EDP), are characterized by a distinctive pharmacogenetic profile.Methods and Findings: Germline DNA from 287 Dutch high-grade osteosarcoma patients was genotyped using the DMET Plus array (containing 1,936 genetic markers in 231 drug metabolism and transporter genes). Associations between genetic variants and EDP were assessed using logistic regression models and associated variants (p

背景：尽管接受（新辅助）顺铂、多柔比星和甲氨蝶呤化疗，部分原发性骨肉瘤患者在一线系统性治疗期间仍出现进展，预后不佳。在本研究中，我们探讨了早期疾病进展（EDP）的患者是否具有独特的药源遗传学特征。研究方法与结果：采用DMET Plus芯片（包含231个药物代谢和转运基因中的1,936个遗传标记）对287名荷兰高等级骨肉瘤患者的基因组DNA进行基因分型。利用逻辑回归模型评估遗传变异与EDP之间的关联，并分析相关变异（p