北京偏远山区心血管病患者SLCO1B1和ApoE基因多态性分析

Analysis of SLCO1B1 and ApoE Gene Polymorphisms in Patients with Cardiovascular Disease in Remote Mountainous Areas of Beijing

目的:探讨北京偏远山区心血管病患者SLCO1B1和ApoE基因多态性分布情况。方法:选取2021年1—12月在北京市密云区中医医院进行SLCO1B1、ApoE基因多态性检测的1242例心血管病患者作为研究对象,采用连续酶测序法检测外周血中SLCO1B1、APOE基因多态性分布。结果:该样本具有群体代表性,1242例心血管病患者SLCO1B1基因中检测出*1a/*1a、*1b/*1b、*1a/*1b、*1a/*15、*1b/*15、*15/*15共6种表型,其中正常肌病风险1013例,占比81.56%,表型为*1a/*1a、*1b/*1b、*1a/*1b;中度肌病风险212例,占比17.07%,表型为*1a/*15、*1b/*15;高度肌病风险17例,占比1.37%,表型为*15/*15。不同性别SLCO1B1基因*1a/*1a、*1b/*1b、*1a/*1b、*1a/*15、*1b/*15、*15/*15分布比较,差异无统计学意义(P=0.428)。1242例心血管病患者ApoE基因中检测出E2/E4、E3/E3、E2/E2、E2/E3、E3/E4、E4/E4共6种表型,其中野生型基因891例,占比71.74%,长寿型基因170例,占比13.69%,危险型基因181例,占比14.57%。不同性别ApoE基因E2/E4、E3/E3、E2/E2、E2/E3、E3/E4、E4/E4分布比较,差异无统计学意义(P=0.078)。结论:北京偏远山区心脑血管病患者SLCO1B1、ApoE基因多态性分布与性别无关,SLCO1B1和ApoE基因多态性会影响他汀类药物疗效与不良反应的发生,建议通过基因检测结合临床实际情况为患者制定合理的用药方案与建议,达到个体化精准用药的目的。

Objective:To explore the distribution of SLCO1B1 and ApoE gene polymorphisms in patients with cardiovascular disease in remote mountainous areas of Beijing.Methods:A total of 1242 patients with cardiovascular disease who underwent SLCO1B1 and ApoE gene polymorphism detection in Beijing Miyun District Traditional Chinese Medicine Hospital from January 2021 to December 2021 were selected as the study subjects.Serial enzyme sequencing method was used to detect the distribution of SLCO1B1 and APOE gene polymorphisms in peripheral blood.Results:The sample was representative of the population.A total of 6 phenotypes were detected in the SLCO1B1 gene of 1242 patients with cardiovascular disease:*1a/*1a,*1b/*1b,*1a/*1b,*1a/*15,*1b/*15,*15/*15,of which 1013 cases had normal myopathy risk,accounting for 81.56%,and their phenotypes were*1a/*1a,*1b/*1b,*1a/*1b;212 cases had middle myopathy risk,accounting for 17.07%,and their phenotypes were*1a/*15 and*1b/*15;17 cases had high myopathy risk,accounting for 1.37%,and their phenotype was*15/*15.There was no statistically significant difference in the*1a/*1a,*1b/*1b,*1a/*1b,*1a/*15,*1b/*15,*15/*15 distributions of SLCO1B1 genes between different genders(P=0.428).A total of 6 phenotypes were detected in the ApoE gene of 1242 patients with cardiovascular disease:E2/E4,E3/E3,E2/E2,E2/E3,E3/E4 and E4/E4,of which 891 cases had wild-type gene,accounting for 71.74%,170 cases had longevity gene,accounting for 13.69%,and 181 cases had risk gene,accounting for 14.57%.There was no statistically significant difference in the E2/E4,E3/E3,E2/E2,E2/E3,E3/E4 and E4/E4 distribution of ApoE genes between different genders(P=0.078).Conclusion:The distribution of SLCO1B1 and ApoE gene polymorphisms in patients with cardiovascular and cerebrovascular diseases in remote mountainous areas of Beijing is not related with gender,and the SLCO1B1 and ApoE gene polymorphisms will affect the efficacy of statins and the occurrence of adverse reactions.It is recommended to formulate reasonable medication plans and suggestions for patients through genetic testing combined with the actual clinical situation,so as to achieve the purpose of individualized precise drug use.