• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

PCSK9、LDLR、BCMO1、SLC12A3 和 KCNJ1 基因多态性与中国汉族人群血脂谱相关。

Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 are Associated with Serum Lipid Profile in Chinese Han Population.

机构信息

Medical School, Hangzhou Normal University, Hangzhou 310000, China.

Medical School, Shihezi University, Shihezi 832000, China.

出版信息

Int J Environ Res Public Health. 2019 Sep 2;16(17):3207. doi: 10.3390/ijerph16173207.

DOI:10.3390/ijerph16173207
PMID:31480784
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6747169/
Abstract

Unfavorable serum lipid levels are the most important risk factors for coronary artery disease (CAD), cerebral infarction, and other cardiovascular and cerebrovascular diseases. This study included 2323 Han Chinese in southern China. We collected medical reports, lifestyle details, and blood samples of individuals and used the polymerase chain reaction-ligase detection reaction method to genotype single-nucleotide polymorphisms (SNPs). Two SNPs showed a strong evidence of association with total cholesterol (TC): rs1003723 and rs6413504 in the low-density lipoproteins receptor (). Two SNPs in showed a strong evidence of association with low-density lipoprotein cholesterol (LDL-C), rs1003723 and rs6413504. Two SNPs showed a strong evidence of association with triglycerides (TG), namely, rs662145 in pro-protein convertase subtilisin-kexin type 9 ( and rs11643718 in the solute carrier family 12 member 3 (. For the TC, LDL-C, and TG levels, these SNPs generated strong combined effects on these lipid levels. For each additional dangerous gene, TC increased by 0.085 mmol/L ( = 7.00 × 10), and LDL-C increased by 0.075 mmol/L ( = 9.00 × 10). The TG increased by 0.096 mmol/L ( = 2.90 × 10). Compared with those bearing no risk alleles, the risk of hypertriglyceridemia, hypercholesterolemia, and dyslipidemia increased in those with two or more risk alleles and one risk gene. Polymorphisms of , , and were associated with the plasma lipid levels in people in southern China. These results provide a theoretical basis for gene screening and the prevention of dyslipidemia.

摘要

血脂水平异常是冠心病(CAD)、脑梗死等心脑血管疾病最重要的危险因素。本研究纳入了中国南方 2323 例汉族人群。我们收集了个体的医疗报告、生活方式细节和血液样本,并使用聚合酶链反应-连接酶检测反应方法对单核苷酸多态性(SNPs)进行基因分型。两个 SNP 与总胆固醇(TC)呈强关联:低密度脂蛋白受体()中的 rs1003723 和 rs6413504。 中的两个 SNP 与低密度脂蛋白胆固醇(LDL-C)呈强关联,即 rs1003723 和 rs6413504。两个 SNP 与甘油三酯(TG)呈强关联,即前蛋白转化酶枯草溶菌素/kexin 9 型(中的 rs662145 和溶质载体家族 12 成员 3 (中的 rs11643718。对于 TC、LDL-C 和 TG 水平,这些 SNP 对这些脂质水平产生了强烈的综合影响。对于每个额外的危险基因,TC 增加 0.085mmol/L(=7.00×10),LDL-C 增加 0.075mmol/L(=9.00×10)。TG 增加 0.096mmol/L(=2.90×10)。与不携带危险等位基因的个体相比,携带两个或更多危险等位基因和一个危险基因的个体发生高甘油三酯血症、高胆固醇血症和血脂异常的风险增加。 、 和 的多态性与中国南方人群的血浆血脂水平相关。这些结果为基因筛选和血脂异常的预防提供了理论依据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2553/6747169/31a4e3b6467c/ijerph-16-03207-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2553/6747169/31a4e3b6467c/ijerph-16-03207-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2553/6747169/31a4e3b6467c/ijerph-16-03207-g001.jpg

相似文献

1
Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 are Associated with Serum Lipid Profile in Chinese Han Population.PCSK9、LDLR、BCMO1、SLC12A3 和 KCNJ1 基因多态性与中国汉族人群血脂谱相关。
Int J Environ Res Public Health. 2019 Sep 2;16(17):3207. doi: 10.3390/ijerph16173207.
2
Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.由前蛋白转化酶枯草杆菌蛋白酶/kexin 9型(PCSK9)功能获得性突变引起的纯合子家族性高胆固醇血症的基因型和表型特征。
Atherosclerosis. 2014 Sep;236(1):54-61. doi: 10.1016/j.atherosclerosis.2014.06.005. Epub 2014 Jun 26.
3
Association between the DOCK7, PCSK9 and GALNT2 Gene Polymorphisms and Serum Lipid levels.DOCK7、PCSK9和GALNT2基因多态性与血脂水平之间的关联
Sci Rep. 2016 Jan 8;6:19079. doi: 10.1038/srep19079.
4
Correlations of PCSK9 and LDLR Gene Polymorphisms and Serum PCSK9 Levels With Atherosclerosis and Lipid Metabolism in Patients on Maintenance Hemodialysis.载脂蛋白 B 代谢关键基因 PCSK9 和 LDLR 基因多态性与维持性血液透析患者动脉粥样硬化及脂代谢的相关性
J Clin Pharmacol. 2023 Dec;63(12):1430-1437. doi: 10.1002/jcph.2332. Epub 2023 Oct 2.
5
Characterization of LDLR rs5925 and PCSK9 rs505151 genetic variants frequencies in healthy subjects from northern Chile: Influence on plasma lipid levels.在智利北部的健康受试者中 LDLR rs5925 和 PCSK9 rs505151 遗传变异频率的特征:对血浆脂质水平的影响。
J Clin Lab Anal. 2019 Nov;33(9):e23001. doi: 10.1002/jcla.23001. Epub 2019 Aug 22.
6
Targeting the proprotein convertase subtilisin/kexin type 9 for the treatment of dyslipidemia and atherosclerosis.针对枯草溶菌素转化酶 9 治疗血脂异常和动脉粥样硬化。
J Am Coll Cardiol. 2013 Oct 15;62(16):1401-8. doi: 10.1016/j.jacc.2013.07.056. Epub 2013 Aug 21.
7
Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations.在非裔人群中,血清 LDL-胆固醇水平较低与 LDLR、APOB、PCSK9 和 LDLRAP1 变异体之间的遗传关联。
PLoS One. 2020 Feb 21;15(2):e0229098. doi: 10.1371/journal.pone.0229098. eCollection 2020.
8
Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia.具有低密度脂蛋白受体(LDLR)突变的前蛋白转化酶枯草杆菌蛋白酶/kexin 9 V4I变体改变家族性高胆固醇血症的表型。
J Clin Lipidol. 2016 May-Jun;10(3):547-555.e5. doi: 10.1016/j.jacl.2015.12.024. Epub 2016 Jan 6.
9
Screening of PCSK9 and LDLR genetic variants in Familial Hypercholesterolemia (FH) patients in India.印度家族性高胆固醇血症(FH)患者的 PCSK9 和 LDLR 基因突变筛查。
J Hum Genet. 2021 Oct;66(10):983-993. doi: 10.1038/s10038-021-00924-y. Epub 2021 Apr 16.
10
The proprotein convertase subtilisin/kexin type 9 gene E670G polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.广西白裤瑶和汉族人群中前蛋白转化酶枯草溶菌素/克胰蛋白酶 9 基因 E670G 多态性与血脂水平的关系。
Lipids Health Dis. 2011 Jan 13;10:5. doi: 10.1186/1476-511X-10-5.

引用本文的文献

1
Improvement of Presbyopia, Dry Eye, Intraocular Pressure, and Near Vision Through Cassiae Tea Consumption.饮用决明子茶对老花眼、干眼症、眼压和近视力的改善作用。
Medicina (Kaunas). 2024 Dec 29;61(1):35. doi: 10.3390/medicina61010035.
2
Update of a Genetic Risk Score Predictive of the Plasma Triglyceride Response to an Omega-3 Fatty Acid Supplementation in the FAS Study.FAS 研究中更新的一种预测 ω-3 脂肪酸补充剂对血浆甘油三酯反应的遗传风险评分。
Nutrients. 2023 Feb 25;15(5):1156. doi: 10.3390/nu15051156.
3
Association of genetic polymorphisms of PCSK9 with type 2 diabetes in Uygur Chinese population.

本文引用的文献

1
Noncardiac Lebanese hospitalized adult patients' awareness of their coronary artery disease risk factors.黎巴嫩非心脏科住院成年患者对其冠状动脉疾病危险因素的认知
Vasc Health Risk Manag. 2018 Nov 8;14:371-382. doi: 10.2147/VHRM.S176167. eCollection 2018.
2
A Rare Missense Mutation and a Polymorphism with High Frequency in Gene among Iranian Patients with Familial Hypercholesterolemia.伊朗家族性高胆固醇血症患者中一个罕见的错义突变及一个基因高频多态性
Adv Biomed Res. 2018 Feb 21;7:37. doi: 10.4103/2277-9175.225927. eCollection 2018.
3
Dietary arginine affects the insulin signaling pathway, glucose metabolism and lipogenesis in juvenile blunt snout bream Megalobrama amblycephala.
载脂蛋白 C-III 基因多态性与维吾尔族 2 型糖尿病的相关性研究。
BMC Cardiovasc Disord. 2022 Jun 22;22(1):284. doi: 10.1186/s12872-022-02710-w.
4
Effects of Erchen Decoction on Oxidative Stress-Related Cytochrome P450 Metabolites of Arachidonic Acid in Dyslipidemic Mice with Phlegm-Dampness Retention Syndrome: A Randomized, Controlled Trial on the Correspondence between Prescription and Syndrome.二陈汤对痰湿内阻型血脂异常小鼠花生四烯酸氧化应激相关细胞色素P450代谢产物的影响:一项方证对应随机对照试验
Evid Based Complement Alternat Med. 2022 Mar 29;2022:1079803. doi: 10.1155/2022/1079803. eCollection 2022.
5
Study on the Effect of Macrophages on Vascular Endothelium in Mice With Different TCM Syndromes of Dyslipidemia and its Biological Basis Based on RNA-Seq Technology.基于RNA-Seq技术对不同中医证型血脂异常小鼠巨噬细胞对血管内皮影响及其生物学基础的研究
Front Pharmacol. 2021 Aug 26;12:665635. doi: 10.3389/fphar.2021.665635. eCollection 2021.
6
The c.*52 and c.*773 Genetic Variants in the UTR'3 of the Gene Are Associated with the Risk of Acute Coronary Syndrome and Lower Plasma HDL-Cholesterol Concentration.基因 UTR'3 中的 c.*52 和 c.*773 遗传变异与急性冠状动脉综合征风险和较低的血浆 HDL-胆固醇浓度相关。
Biomolecules. 2020 Sep 29;10(10):1381. doi: 10.3390/biom10101381.
日粮精氨酸影响幼龄团头鲂胰岛素信号通路、糖代谢和脂生成。
Sci Rep. 2017 Aug 11;7(1):7864. doi: 10.1038/s41598-017-06104-3.
4
Arg913Gln of SLC12A3 gene promotes development and progression of end-stage renal disease in Chinese type 2 diabetes mellitus.SLC12A3 基因 Arg913Gln 促进中国 2 型糖尿病终末期肾病的发生发展。
Mol Cell Biochem. 2018 Jan;437(1-2):203-210. doi: 10.1007/s11010-017-3120-z. Epub 2017 Jul 25.
5
Dyslipidemia Part 1--Review of Lipid Metabolism and Vascular Cell Physiology.血脂异常 第1部分——脂质代谢与血管细胞生理学综述
Vasc Endovascular Surg. 2016 Feb;50(2):107-18. doi: 10.1177/1538574416628654.
6
LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers.低密度脂蛋白受体(LDLR)和前蛋白转化酶枯草溶菌素9(PCSK9)与抗磷脂抗体的存在及抗磷脂抗体综合征(aPLA)携带者血栓形成相关。
PLoS One. 2016 Jan 28;11(1):e0146990. doi: 10.1371/journal.pone.0146990. eCollection 2016.
7
L-Arginine and vitamin C attenuate pro-atherogenic effects of high-fat diet on biomarkers of endothelial dysfunction in rats.L-精氨酸和维生素C减轻高脂饮食对大鼠内皮功能障碍生物标志物的促动脉粥样硬化作用。
Biomed Pharmacother. 2015 Dec;76:100-6. doi: 10.1016/j.biopha.2015.10.001. Epub 2015 Nov 14.
8
Association of polymorphisms of genes involved in lipid metabolism with blood pressure and lipid values in mexican hypertensive individuals.墨西哥高血压患者中参与脂质代谢的基因多态性与血压及血脂值的关联
Dis Markers. 2014;2014:150358. doi: 10.1155/2014/150358. Epub 2014 Dec 21.
9
When to use the Bonferroni correction.何时使用邦费罗尼校正。
Ophthalmic Physiol Opt. 2014 Sep;34(5):502-8. doi: 10.1111/opo.12131. Epub 2014 Apr 2.
10
Effect of E670G Polymorphism in PCSK9 Gene on the Risk and Severity of Coronary Heart Disease and Ischemic Stroke in a Tunisian Cohort.载脂蛋白 B 代谢关键基因 PCSK9 E670G 多态性与冠心病及缺血性脑卒中相关性的研究。
J Mol Neurosci. 2014 Jun;53(2):150-7. doi: 10.1007/s12031-014-0238-2. Epub 2014 Mar 6.