CYP1B1遗传多态性与个体化治疗

CYP1B1是细胞色素P450（cytochrome P450, CYP450s）家族成员，作为I相代谢酶，主要通过催化性激素、脂肪酸、维生素、褪黑素及外源性化学物质和药物的代谢，参与人体组织正常结构和生理功能的维持。研究发现，CYP1B1基因多态性会影响其蛋白表达水平和酶活性，对其催化的代谢过程产生影响，尤其是对性激素和外源物质的代谢过程的改变，与青光眼、各类癌症的发生发展及治疗密切相关。研究CYP1B1参与的机体代谢途径及基因多态性对其影响，有利于深入了解代谢途径的改变在相关疾病发生发展和药物治疗中的作用，加深对癌症、青光眼等疾病的认识，促进从基因层面检测和评估相关疾病的发生风险和预后，从而实现疾病的预防和早期发现，为个体化治疗提供依据，改善患者生存质量，延长生存期。本文拟就近五年CYP1B1参与的主要代谢途径及基因多态性对其影响的研究进展作一综述。

Relevance of CYP1B1 genetic polymorphism and individual therapy

CYP1B1 is a member of the cytochrome P450 (CYP450s) family. As a phase I metabolizing enzyme, CYP1B1 is involved in the maintenance of normal structure and physiological function in the human body through catalyzing the metabolism of hormones, fatty acids, vitamins, exogenous chemicals and drugs. It has been found that CYP1B1 gene polymorphism can affect its protein expression and enzyme activity, thus having an impact on the metabolic processes that it catalyzes, especially the changes in the metabolic processes of sex hormones and exogenous substances which are closely related to the occurrence and treatment of glaucoma, various types of cancer and other diseases. Studying on the metabolic pathways involving CYP1B1 and on the influence of its gene polymorphisms will help us understand the role of metabolic pathway changes in the development of related diseases and in the medical treatment, deepen our understanding of diseases such as cancer and glaucoma, and facilitate the detection and assessment of the risk of diseases at the genetic level, so as to achieve early detection and prevention of the diseases, to provide evidence for personalized medicine, thus improving the quality of life and prolonging the survival period. This article reviews the research progress of metabolic pathways involving CYP1B1 and the impact of genetic polymorphisms in recent five years.