1例基因多态性与瑞舒伐他汀疗效个体差异的病例分析

A Case Study of the Association Between Genetic Polymorphisms and Interindividual Variation of Response to Rosuvastatin

摘要: 目的探讨一患者服用瑞舒伐他汀后短期降脂疗效减弱的可能原因。方法焦磷酸测序技术检测患者ATP结合转运蛋白超家族成员2 (ABCG2)及有机阴离子转运体1B1(SLCO1B1)基因多态性。结果患者为ABCG2 c.421 CA杂合子，SLCO1B1 c.388GG纯合子，SLCO1B1 c.521TT纯合子。结论 SLCO1B1 c.388G突变有可能与瑞舒伐他汀短期降脂疗效减弱有关。

Abstract: OBJECTIVE To explore the possible reason of that a patient had decreased short-term lipid-lowering response to rosuvastatin. METHODS The patient’s ATP-binding cassette G2 (ABCG2) and organic anion transporter 1B1 (SLCO1B1) gene polymorphisms was detected. Pyrosequencing technology was used to detect gene polymorphisms. RESULTS The patient was ABCG2 c.421 CA heterozygous, SLCO1B1 c.388GG homozygous, SLCO1B1 c.521TT homozygous. CONCLUSION SLCO1B1 c.388G mutation may be related to decreased short-term lipid-lowering response to rosuvastatin.