SLCO1B1基因多态性分析及其临床意义

Analysis of SLCO1B1 gene polymorphism and its clinical significance

目的探讨山西省籍贯汉族人群SLCO1B1基因多态性及其临床意义。方法采用横断面研究,选取2019年1月至2020年1月就诊于山西医科大学第二医院并接受SLCO1B1基因多态性检测的山西省籍贯汉族患者441例,其中动脉粥样硬化者408例,无动脉粥样硬化者25例,临床未确定是否患有动脉粥样硬化者8例。通过聚合酶链反应-荧光探针技术定性检测患者外周全血基因组中SLCO1B1*1b(388 A>G)rs2306283、SLCO1B1*5(521 T>C)rs4149056基因,统计并分析其基因型、基因表型频率及多态性分布。结果441例患者SLCO1B1基因*1b(388 A>G)位点野生型(AA基因型)31例(7.0%)、杂合突变型(AG基因型)164例(37.2%)、纯合突变型(GG基因型)246例(55.8%);*5(521 T>C)位点野生型(TT基因型)346例(78.5%)、杂合突变型(TC基因型)90例(20.4%)、纯合突变型(CC基因型)5例(1.1%)。441例患者SLCO1B1基因中*1b/*1b最多见,占40.6%(179例),然后依次为*1a/*1b(31.1%,137例)、*1b/*15(14.1%,62例)、*1a/*1a(7.0%,31例)、*1a/*15(6.1%,27例)、*15/*15(1.1%,5例),其中正常代谢型人群占比最高(78.7%,347例),弱代谢型人群占比最低(1.1%,5例),中间代谢型人群占比居中(20.2%,89例)。441例患者中男性304例,女性137例。不同性别各基因型及基因表型分布差异均无统计学意义(均P>0.05)。结论本组山西省籍贯441例汉族人群中,SLCO1B1*1b(388 A>G)位点纯合突变型较多,SLCO1B1*5(521 T>C)位点野生型较多,该基因正常代谢型分布较多,弱代谢型分布少,且基因型分布与性别无关。

Objective To analyze the polymorphism of SLCO1 B1 gene and its clinical significance in Han nationality population in Shanxi Province.Methods From January 2019 to January 2020,441 patients with Han nationality in Shanxi province were examined by SLCO1 B1 gene polymorphism in the Second Hospital of Shanxi Medical University,including 408 cases of atherosclerosis,25 cases of non atherosclerosis,and 8 cases of clinically undetermined atherosclerosis.In this cross-sectional study,SLCO1 B1*1 b(388 A>G)rs2306283,SLCO1 B1*5(521 T>C)rs4149056 in 441 patients peripheral whole blood genomes was determined by polymerase chain reaction(PCR)-fluorescent probe technique.The genotype,gene phenotype frequency and polymorphism distribution of SLCO1 B1 gene were analyzed statistically.Results The SLCO1 B1 gene*1 b(388 A>G)locus in 441 patients was wild-type(AA genotype)in 31 cases(7.0%),heterozygous mutant(AG genotype)in 164 cases(37.2%),and homozygous mutant(GG genotype)in 246 cases(55.8%);there were 346 cases(78.5%)of wild type(TT genotype),90 cases(20.4%)of heterozygous mutation(TC genotype)and 5 cases(1.1%)of homozygous mutation(CC genotype)for SLCO1 B1 gene*5(521 T>C).Among 441 patients with SLCO1 B1 gene,*1 b/*1 b was the most common,accounting for 40.6%(179 cases),followed by*1 a/*1 b(31.1%,137 cases),*1 b/*15(14.1%,62 cases),*1 a/*1 a(7.0%,31 cases),*1 a/*15(6.1%,27 cases),*15/*15(1.1%,5 cases),of which the proportion of normal metabolic group was the highest(78.7%,347 cases),the proportion of weak metabolic group was the lowest(1.1%,5 cases),and the proportion of intermediate metabolic type was in the middle(20.2%,89 cases).Among the 441 patients,304 were male and 137 were female.There were no significant differences in the distribution of genotypes and phenotypes between different genders(all P>0.05).Conclusions There are more homozygous mutant at SLCO1 B1*1 b(388 A>G)and wild-type SLCO1 B1*5(521 T>C)sites in 441 Han people from Shanxi Province.There are many normal metabolic type and less weak metabolic type,and the genotype distribution is independent of gender.