长春地区2型糖尿病伴脂代谢异常患者ApoE及SLCO1B1基因多态性研究  

Study on ApoE and SLCO1B1 Gene Polymorphisms in Patients with Type 2 Diabetes Mellitus with Abnormal Lipid Metabolism in Changchun Area

作　　者：宁鑫 张连波 李清波 孙婷婷 NING Xin;ZHANG Lianbo;LI Qingbo;SUN Tingting(Jilin Province FAW General Hospital,Changchun,Jilin,China 130011)

机构地区：[1]吉林省一汽总医院,吉林长春130011

出　　处：《中国药业》2025年第8期64-67,共4页China Pharmaceuticals

基　　金：吉林省卫生健康科技能力提升项目[2021LC098]。

摘　　要：目的探讨长春地区2型糖尿病(T2DM)伴脂代谢异常患者ApoE及SLCO1B1基因多态性分布情况。方法选取医院收治的上述患者300例,采用原位杂交法检测其外周血ApoE基因位点[c.526C>T(rs429358)和c.388T>C(rs7412)]和SLCO1B1基因位点[c.521T>C(rs4149056)、c.388A>G(rs2306283)],分析其基因多态性分布特点,比较不同性别、不同地区之间基因型分布,以及两基因各类型患者糖化血红蛋白(HbA_(1C))水平的差异。结果检测到全部6种ApoE基因型,分别为E2/E2型(0.33%)、E2/E3型(12.33%)、E2/E4型(0.67%)、E3/E3型(67.67%)、E3/E4型(16.67%)、E4/E4型(2.33%),以大众类基因型(E2/E4、E3/E3)占比最高(68.33%);检测到9种SLCO1B1基因型中的7种(除*1a/*5型和*5/*5型外),以正常疾病风险型(*1a/*1a型,*1a/*1b型,*1b/*1b型)占比最高(77.00%)。两种基因的基因多态性频率分布满足Hardy-Weinberg遗传平衡,具有群体代表性;不同性别患者各基因型组合分布比较,差异无统计学意义(P>0.05)。长春地区ApoE及SLCO1B1基因型分布与华中、华南、北京地区比较,差异无统计学意义(P>0.05)。且长春地区T2DM患者ApoE及SLCO1B1各基因表型患者的HbA1C水平比较,差异无统计学意义(P>0.05)。结论长春地区T2DM伴脂代谢异常患者ApoE及SLCO1B1基因型分别以他汀药物疗效正常的大众类基因型和服用他汀类药物剂量耐受性较高的正常疾病风险型为主;服用他汀类药物诱发肌病风险较低,调脂效果较好;且两种基因多态性分布特征不受性别影响。检测两基因多态性可辅助临床制订他汀类药物个体化给药方案,减少不良反应的发生。Objective To investigate the gene polymorphisms distribution of ApoE and SLCO1B1 in type 2 diabetes mellitus(T2DM)patients with abnormal lipid metabolism in Changchun area.Methods A total of 300 patients admitted to the hospital were selected.The ApoE gene loci[c.526C>T(rs429358)and c.388T>C(rs7412)]and SLCO1B1 gene loci[c.521 T>C(rs4149056)and c.388 A>G(rs2306283)]in peripheral blood were detected by in situ hybridization,and the characteristics of gene polymorphism distribution were analyzed.The genotype distribution among different genders and different regions were compared,and the differences in the levels of glycosylated hemoglobin(HbA1C)of various type between the two genes.Results All six ApoE genotypes were detected,including E2/E2(0.33%),E2/E3(12.33%),E2/E4(0.67%),E3/E3(67.67%),E3/E4(16.67%),and E4/E4(2.33%).The general population of genotype(E2/E4,E3/E3)was highest(68.33%).Seven of the nine SLCO1B1 genotypes(except*1a/*5 and*5/*5)were detected,and the normal disease risk proportion of genotypes(*1a/*1a,*1a/*1b,*1b/*1b)was highest(77.00%).The gene polymorphism frequency distribution of the two genes satisfied the Hardy-Weinberg genetic balance and was representative of the population.There was no significant difference in the distribution of genotype combinations between different genders(P>0.05).There was no significant difference in the distribution of ApoE and SLCO1B1 genotypes between Changchun area and the area of Central China,South China and Beijing(P>0.05),and there was no significant difference in HbA1C levels among the various ApoE and SLCO1B1 genotypes in Changchun area(P>0.05).Conclusion The ApoE and SLCO1B1 genotypes of T2DM patients with abnormal lipid metabolism in Changchun area were mainly the general population genotype with normal statin efficacy and the normal disease risk proportion genotypes with high dose tolerance of statins.Taking statins has a lower risk of inducing myopathy and a better lipid-lowering effect,and the characteristics of gene polymorphisms distribution in the two

关 键 词：APOE SLCO1B1 基因多态性 2型糖尿病 脂代谢异常 长春地区 

分 类 号：R587.1[医药卫生—内分泌]