CYP2R1的遗传多态性及其个体化治疗应用

CYP2R1是细胞色素P450家族2亚家族的成员，作为维生素D的25-羟化酶，负责将维生素D羟基化为25-羟基维生素D（25-OH-D），影响活性激素1,25(OH)2D的生成。CYP2R1突变会引发维生素D依赖型佝偻病1B型，且CYP2R1的多态性与25-OH-D水平显著相关，尤其是rs10741657。CYP2R1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显著影响。CYP2R1通过调节基因功能，从而调节免疫反应，影响1型糖尿病的发病风险。其多态性与多种癌症的风险相关，包括乳腺癌，前列腺癌和结肠直肠癌。研究 CYP2R1基因多态性有利于深入了解代谢途径的改变在相关疾病发生发展中的作用，加深对癌症、佝偻病、1型糖尿病等疾病的认识，促进从基因层面检测和评估相关疾病的发生风险。本文拟就近五年CYP2R1参与的代谢途径和基因多态性对其影响的研究进展作一综述。

Relevance of CYP2R1 genetic polymorphism and individual therapy

CYP2R1 is a member of the cytochrome P450 family 2 subfamily. As a 25-hydroxylase of vitamin D, it is responsible for the hydroxylation of vitamin D to 25-hydroxyvitamin D (25-OH-D), affecting the production of active hormone 1,25(OH)2D. The CYP2R1 mutation triggers a vitamin D-dependent rickets type 1B. The polymorphism of CYP2R1 is significantly correlated with the level of 25-OH-D, especially rs10741657. The CYP2R1 gene polymorphism affects its protein expression level and enzyme activity, and has a significant impact on the metabolic processes that it catalyzes. CYP2R1 regulates the immune response by regulating gene function and affects the risk of type 1 diabetes. Its polymorphism is associated with a variety of cancer risks, including breast cancer, prostate cancer, and colorectal cancer. Studying the CYP2R1 gene polymorphism is helpful for understanding the role of metabolic pathway changes in the development of related diseases, deepening the understanding of diseases such as cancer, rickets and type 1 diabetes, and promoting the detection and assessment of the risk of related diseases from the genetic level. This article reviews the research progress of metabolic pathways and gene polymorphisms involved in CYP2R1 in recent five years.