2022 年第 1 期 第 17 卷

冠心病患者SLCO1B1基因多态性分布研究

Distribution of SLCO1B1 gene polymorphism in patients with coronary atherosclerotic heart disease

作者：智丽霞王康杨慧宇

英文作者：Zhi Lixia Wang Kang Yang Huiyu

单位：山西医科大学第二医院心内科，太原030000

英文单位：Department of Cardiology Second Hospital of Shanxi Medical University Taiyuan 030000 China

关键词：冠心病（冠状动脉粥样硬化性心脏病）；SLCO1B1基因；基因多态性

英文关键词：Coronaryatheroscleroticheartdisease;SLCO1B1gene;Genepolymorphism

• 摘要：

• 目的  探讨冠心病（冠状动脉粥样硬化性心脏病）患者SLCO1B1*1b（388 A>G）rs2306283、SLCO1B1*5（521 T>C）rs4149056基因的多态性分布，为临床冠心病患者个体化合理运用他汀类药物提供一定的理论依据。方法 采用横断面研究方法，选取2019年6月至2020年1月就诊于山西医科大学第二医院并接受SLCO1B1基因多态性检测的227例冠心病患者纳入研究，采用聚合酶链反应-荧光探针技术定性测定其外周全血基因组中SLCO1B1*1b（388 A>G）、SLCO1B1*5（521 T>C）基因多态性，统计分析其等位基因、基因型、基因表型频率及多态性分布。结果经分析发现本研究人群中SLCO1B1*1b（388 A>G）等位基因AG、SLCO1B1*5（521 T>C）等位基因TC基因型分布的观察值和预期值之间差异均无统计学意义(均P>0.05)，具有群体代表性。227例冠心病患者中，*1b（388 A>G）位点野生型AA占8.8%（20例）、突变杂合型AG占38.8%（88例）、突变纯合型GG占52.4%（119例）；*5（521 T>C）位点野生型TT占78.4%（178例）、突变杂合型TC占20.7%（47例）、突变纯合型CC占0.9%（2例）。检测到6种基因型，分别为*1a/*1a（8.8%，20例）、*1a/*1b（33.5%，76例）、*1b/*1b（36.6%，83例）、*1a/*15（5.3%，12例）、*1b/*15（15.0%，34例）、*15/*15（0.9%，2例），其中正常代谢型占78.9%（179例）、中间代谢型占20.3%（46例）、弱代谢型占0.9%（2例）。结论  本组冠心病患者*1b（388 A>G）位点突变纯合型频率最高，*5（521 T>C）位点野生型频率最高，SLCO1B1以正常代谢型分布最多，等位基因以*1b分布最多，与流行病学基本一致。冠心病患者进行SLCO1B1基因检测具有实际意义。

• Objective   To discuss genes polymorphism distribution of the SLCO1B1*1b(388 A>G) rs2306283 and SLCO1B1*5(521 T>C) rs4149056 in patients with coronary atherosclerotic heart disease, so as to provide evidence for the individualized and rational use of statins in patients with coronary atherosclerotic heart disease. Methods  A cross-sectional study was used in this research. From June 2019 to January 2020, 227 patients with coronary atherosclerotic heart disease treated in Second Hospital of Shanxi Medical University and tested for SLCO1B1 gene polymorphism were enrolled. Qualitative detection of genes polymorphism of SLCO1B1*1b(388 A>G) and SLCO1B1*5(521 T>C) in peripheral blood were implemented by polymerase chain reaction-fluorescent probe technology, frequencies of alleles, genotypes and phenotypic were calculated, and the distribution of polymorphism was analyzed. Results  It was found that there was no significant difference between the observed and expected values of SLCO1B1 *1b(388 A>G) allele AG and SLCO1B1 *5(521 T>C) allele TC genotype distribution in the study population(all P>0.05), with group representation. Among 227 patients with coronary atherosclerotic heart disease, the proportions of wild-type AA, mutant heterozygous AG and mutant homozygous GG alleles in *1b(388 A>G) were 8.8%(20 cases), 38.8%(88 cases) and 52.4%(119 cases) respectively; the proportions of wild-type TT, mutant heterozygous TC and mutant homozygous CC alleles in *5(521 T>C) were  78.4%(178 cases), 20.7%(47 cases)  and 0.9%(2 cases) respectively. Six genotypes were *1a/*1a(8.8%, 20 cases), *1a/*1b(33.5%, 76 cases), *1b/*1b(36.6%, 83 cases), *1a/*15(5.3%, 12 cases), *1b/*15(15.0%, 34 cases), *15/*15(0.9%, 2 cases) respectively. The normal metabotype accounted for 78.9%(179 cases), the intermediate metabolic type accounted for 20.3%(46 cases) and the weak metabolic type accounted for 0.9%(2 cases). Conclusions  In patients with coronary atherosclerotic heart disease in this study, mutation homozygous has the highest frequency in *1b(388 A>G), and  wild-type has the highest frequency in *5 (521 T>C). The normal metabotype is the most distributed in SLCO1B1 , and the most common allele is *1b, which was basically consistent with the epidemiology. SLCO1B1 gene detection in patients with coronary atherosclerotic heart disease has practical significance.