Lloberas Nuria, Hesselink Dennis A, van Schaik Ron Hn, Grinyò Josep M, Colom Helena, Gelder Teun van, Elens Laure
Laboratory 4122, Nephrology Service & Laboratory of Experimental Nephrology, University of Barcelona, Campus Bellvitge, Barcelona, Spain.
Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Pharmacogenomics. 2018 Mar;19(4):305-310. doi: 10.2217/pgs-2017-0301. Epub 2018 Feb 22.
A validated CYP3A genotype classification system allows clustering patients into poor, intermediate and extensive metabolizer phenotypes. However, substantial overlap exists between the clusters. A rare CYP3A4 allele, named CYP3A420 (rs67666821), has been specifically described in the Spanish population. The authors investigated the relevance of CYP3A420 testing to see if the above-mentioned metabolic CYP3A classification system can be improved. In a cohort of 204 kidney transplant recipients, one male patient carrying a CYP3A4*20 allele was detected. This patient was receiving very low doses of tacrolimus to maintain therapeutic levels from day 7 onward when compared with the majority of the patients. These data suggest that this patient should be regarded as a CYP3A-poor metabolizer.
一个经过验证的CYP3A基因分型系统可将患者分为代谢不良、代谢中等和代谢广泛的表型。然而,这些类别之间存在大量重叠。一种名为CYP3A420(rs67666821)的罕见CYP3A4等位基因已在西班牙人群中被专门描述。作者研究了CYP3A420检测的相关性,以确定上述CYP3A代谢分类系统是否可以得到改进。在一个204名肾移植受者的队列中,检测到一名携带CYP3A4*20等位基因的男性患者。与大多数患者相比,该患者从第7天起就接受非常低剂量的他克莫司以维持治疗水平。这些数据表明该患者应被视为CYP3A代谢不良者。