关键词: SLCO1B1, ApoE, 基因多态性, 他汀类药物, 心血管疾病

Abstract: AIM: To investigate the polymorphism distribution of lipid and drug metabolism-related genes of SLCO1B1 and ApoE in patients with cardiovascular disease of Han nationality in Anhui province, and to evaluate the benefit-risk ratio of individual use of statins.  METHODS: PCR fluorescence probe technique was used to detect the genetic polymorphism of rs2306283 (388A>G) and rs4149056 (521T>C) of SLCO1B1 as well as rs429358 (388 T>C) and rs7412 (526C>T) of ApoE in 736 individuals diagnosed with cardiovascular diseases in the inpatient department of the Second People's Hospital of Hefei from January 2019 to August 2020 were included. The distribution characteristics of SLCO1B1 and ApoE genotypes were analyzed according to the gender of the subjects, and the results of genetic polymorphism were compared with the data of cardiovascular disease patients in other areas of China. RESULTS: Six genotypes of SLCO1B1 had been detected. They were *1a/*1a (6.11%), *1a/*1b (29.08%), *1b/*1b (44.57%), *1a/*15 (4.08%), *1b/*15 (15.49%) and *15/*15 (0.68%), while *1a/*5, *5/*5 and *5/*15 had not been detected. Six genotypes of ApoE had been detected. They were E2/E2 (0.41%), E2/E3 (11.96%), E2/E4 (1.09%), E3/E3 (67.66%), E3/E4 (17.93%) and E4/E4 (0.95%). The frequency distribution of genetic polymorphism of these two genes satisfied the Hardy-Weinberg genetic equilibrium, which was representative of the population. In this study, the proportion of people with SLCO1B1 normal myopathy risk was the highest, accounting for 79.76%; SLCO1B1 had a lower proportion of people with moderate myopathy risk and high myopathy risk were 19.57% and 0.68%, respectively. The reduced risk, normal risk and increased risk phenotypes of ApoE were respectively 12.37%, 68.75% and 18.88%. There was no statistically significant difference in SLCO1B1 and ApoE genotypes beween gender. Compared with patients with cardiovascular disease in Southern China area, the distribution of ApoE genetic polymorphism was significantly different in Anhui. CONCLUSION: The SLCO1B1 and ApoE genetic polymorphism of 736 patients with cardiovascular diseases in Anhui were mainly normal myopathy risk types with higher dose tolerance of statins as well as popular genotypes that were sensitive to statins, and the application of statins has a lower risk of myopathy and a good effect on lipid reduction. The polymorphism of the two genes was not affected by gender, but the distribution phenotypes of ApoE might be different in regional characteristics. The detection of SLCO1B1 and ApoE genetic polymorphism is significant for evaluation of benefit-risk ratios, thereby guiding statins clinical treatment. 

Key words: SLCO1B1, ApoE, gene polymorphism, statins, cardiovascular diseases