FERM结构域蛋白5和视网膜母细胞瘤结合蛋白5和分选衔接蛋白13及极低密度脂蛋白受体的变异与高脂血症风险的相关性  

Association of the variants in FERM domain-containing protein 5 and RNA binding motif protein 5 and sorting nexin 13 and very low-density lipoprotein receptor with the risk of hyperlipidemia

作　　者：高辉[1] 李家海 马巧丽 张清慧 GAO Hui;LI Jia-hai;MA Qiao-li;ZHANG Qing-hui(Department of Cardiovascular Medicine,The First People’s Hospital of Shangqiu,Shangqiu 476000,China;Department of Cardiovascular Medicine,The First People’s Hospital of Qinzhou,Qinzhou 535000,China;Department of Cardiology,Zibo Central Hospital,Zibo 255000,China;Department of Hypertension,Henan Provincial People’s Hospital,Zhengzhou 450000,China)

机构地区：[1]商丘市第一人民医院心血管内科,河南省商丘市476000 [2]钦州市第一人民医院心血管内科 [3]淄博市中心医院心血管内科 [4]河南省人民医院高血压科

出　　处：《中国心血管病研究》2025年第2期146-152,共7页Chinese Journal of Cardiovascular Research

基　　金：河南省医学科技研究计划联合建设项目(LHGJ20210988)。

摘　　要：目的探讨FERM结构域蛋白5(FRMD5)、RNA结合基序蛋白5(RBM5)、分选衔接蛋白13(SNX13)、极低密度脂蛋白受体(VLDLR)的单核苷酸多态性(SNP)与中国人高脂血症风险的关系。方法2021年3~12月,依托商丘市第一人民医院科研项目,从商丘市招募2262例27~92岁的参与者。对1191例正常脂质血症、631例高胆固醇血症(HCH)和561例高甘油三酯血症(HTG)患者的4个SNP进行了基因分型。结果FRMD5 rs2929282、RBM5 rs2013208和VLDLR rs3780181 SNP的基因型频率在高脂血症与正常脂质血症组之间存在显著差异。RBM5 rs2013208 SNP增加HCH风险(OR=1.46),VLDLR rs3780181 SNP减少风险(OR=0.70),而FRMD5 rs2929282和RBM5 rs2013208 SNP增加HTG风险(OR=1.47,OR=1.37)。结论FRMD5 rs2929282、RBM5 rs2013208和VLDLR rs3780181 SNP与中国人HCH或HTG的风险相关。Objective To explore the relationship between the single nucleotide polymorphisms(SNP)of FERM domain-containing protein 5(FRMD5),RNA binding motif protein 5(RBM5),sorting nexin 13(SNX13),and very low-density lipoprotein receptor(VLDLR)and the risk of hyperlipidemia in Chinese people.Methods In 2021,2262 participants aged 27-92 years were recruited from Shangqiu City,Henan Province.Genotyping of 4 SNP was performed in 1,191 patients with normal lipidemia,631 with hypercholesterolemia(HCH),and 561 with hypertriglyceridemia(HTG).Results The genotype frequencies of FRMD5 rs2929282,RBM5 rs2013208 and VLDLR rs3780181 SNP were significantly different between the hyperlipidemia and normal lipidemia groups.RBM5 rs2013208 SNP increased the risk of HCH(OR=1.46),VLDLR rs3780181 SNP reduced the risk(OR=0.70),while FRMD5 rs2929282 and RBM5 rs2013208 SNP increased the risk of HTG(OR=1.47,OR=1.37).Conclusion FRMD5 rs2929282,RBM5 rs2013208 and VLDLR rs3780181 SNP are associated with the risk of HCH or HTG in Chinese people.

关 键 词：单核苷酸多态性 脂质 高胆固醇血症 高甘油三酯血症 

分 类 号：R589.2[医药卫生—内分泌]