ApoE和SLCO1B1基因多态性分析及临床意义

Analysis and clinical significance of ApoE and SLCO1B1 gene polymorphisms

目的 研究载脂蛋白E(ApoE)和有机阴离子转运多肽1B1(SLCO1B1)基因多态性在河北地区的分布情况,以及基因多态性与血脂水平关键指标的相关性,为他汀类药物临床合理用药提供依据。方法 收集2019年8月至2023年8月于沧州市人民医院进行ApoE和SLCO1B1基因检测的315例河北地区患者,统计并分析其ApoE和SLCO1B1总体及不同性别基因多态性分布和基因型分布情况。结果 315例患者中共检出6种ApoE基因型,由多到少依次为E3/E3(66.98%),E3/E4(18.41%),E2/E3(13.02%),E2/E4(0.95%),E4/E4(0.32%)及E2/E2(0.32%)。共检出6种SLCO1B1基因型,由多到少分别为^(*)=1b/^(*)=1b(40.64%),^(*)=1a/^(*)=1b(33.97%),^(*)=1b/^(*)=15(13.33%),^(*)=1a/^(*)=1a(7.30%),^(*)=1a/^(*)=15(4.44%)和^(*)=15/^(*)=15(0.32%)。ApoE各基因型及各基因表型在不同性别分布间的比较,差异有统计学意义(χ^(2)=11.40,9.11,P<0.05),SLCO1B1各基因型及基因表型在不同性别分布间的比较,差异有统计学意义(χ^(2)=13.05,7.83,P<0.05)。在各血脂水平方面,ApoE基因多态性与血脂水平LDL-C具有相关性(r=0.167,P<0.05),SLCO1B1基因表型与各血脂指标水平均无明显相关性(P>0.05)。结论 河北地区人群的ApoE和SLCO1B1基因多态性分别以E3型和I类正常代谢基因型为主,且不同性别中ApoE、SLCO1B1的各基因型及基因表型存在差异,ApoE基因表型会影响LDL-C水平。

Objective To investigate the distribution of ApoE and SLCO1B1 gene polymorphisms in the Hebei region,and the relationship between these polymorphisms and key markers of lipid levels,and pro⁃vide a basis for the rational clinical use of statins.Methods 315 patients from the Hebei region who underwent ApoE and SLCO1B1 gene testing at the Peoples Hospital of Cangzhou City from August 2019 to August 2023 were included in the study.The distribution of ApoE and SLCO1B1 gene polymorphisms,and genotype distribu⁃tion were then statistically analyzed.Results A total of 6 ApoE genotypes were detected in 315 patients,with the following percentages:E3/E3(66.98%),E3/E4(18.41%),E2/E3(13.02%),E2/E4(0.95%),E4/E4(0.32%)and E2/E2(0.32%).Additionally,6 SLCO1B1 genotypes were identified,in descending order:^(*)=1b/^(*)=1b(40.63%),^(*)=1a/^(*)=1b(33.97%),^(*)=1b/^(*)=15(13.33%),^(*)=1a/^(*)=1a(7.30%),^(*)=1a/^(*)=15(4.44%),and^(*)=15/^(*)=15(0.32%).Statistically significant differences were found when comparing ApoE genotypes and gene phenotypes among dif⁃ferent gender distributions(χ^(2)=11.40,9.11,P<0.05).Similarly,significant differences were observed when com⁃paring SLCO1B1 genotypes and gene phenotypes among different gender distributions(χ^(2)=13.05,7.83,P<0.05).Regarding blood lipid levels,the ApoE gene polymorphism showed a correlation with LDL levels(r=0.167,P<0.05),while the SLCO1B1 gene phenotype did not exhibit a significant correlation with various blood lipid indica⁃tors(P>0.05).Conclusion The ApoE and SLCO1B1 gene polymorphisms in the Hebei population are mainly E3 and type I normal metabolic genotypes,respectively.There are differences in ApoE and SLCO1B1 genotypes and gene phenotypes among different genders.ApoE gene phenotypes can affect LDL levels.