• 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

冠心病患者血清低密度脂蛋白胆固醇与染色体位点1p13.3基因变异之间的关联。

The Association between Serum LDL Cholesterol and Genetic Variation in Chromosomal Locus 1p13.3 among Coronary Artery Disease Patients.

作者信息

Rizk Nasser M, El-Menyar Ayman, Egue Huda, Souleman Wais Idil, Mohamed Baluli Hissa, Alali Khalid, Farag Fathi, Younes Noura, Al Suwaidi Jassim

机构信息

Health Sciences Department, CAS, Qatar University, P.O. Box 2713, Doha, Qatar.

Cardiology Unit, Ahmed Maher Teaching Hospital, Cairo, Egypt ; Clinical Medicine, Weill Cornell Medical School, P.O. Box 24144, Doha, Qatar.

出版信息

Biomed Res Int. 2015;2015:678924. doi: 10.1155/2015/678924. Epub 2015 Mar 8.

DOI:10.1155/2015/678924
PMID:25969834
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4370099/
Abstract

BACKGROUND

Several polymorphisms of a locus on chromosome 1p13.3 have a significant effect on low-density lipoprotein cholesterol (LDL-C), atherosclerosis, and acute coronary syndrome (ACS).

METHODS

We aimed to investigate the association between rs599839, rs646776, and rs4970834 of locus 1p13.3 and serum LDL-C and severity of coronary artery stenosis in ACS patients. Genotyping of the rs599839, rs646776, and rs4970834 polymorphisms was performed on Arab patients undergoing coronary angiography for ACS. Patients were divided into group A (ACS with insignificant stenosis (<50%)) and group B (with significant stenosis (≥ 50%)).

RESULTS

Patients carrying the minor G allele in rs599839 had significantly lower mean of LDL-C (2.58 versus 3.44 mM, P = 0.026) than homozygous A allele carriers (GG versus AA). Carriers of minor C allele in rs64776 had significantly higher mean of HDL-C (2.16 versus 1.36 mM, P = 0.004) than carriers of the T alleles (AA versus GG). The odd ratio and 95% confidence interval for dominant model for G allele carriers of rs599839 were 0.51 (0.30-0.92), P = 0.038, among patients with significant stenosis.

CONCLUSIONS

Polymorphisms rs646776 and rs599839 of locus 1p13.3 were significantly associated with LDL-C and other lipid parameters. In addition, the G-allele carriers of variant rs599839 had a significant protective effect against the atherosclerosis.

摘要

背景

位于1号染色体1p13.3位点的几种多态性对低密度脂蛋白胆固醇(LDL-C)、动脉粥样硬化和急性冠状动脉综合征(ACS)有显著影响。

方法

我们旨在研究1p13.3位点的rs599839、rs646776和rs4970834与ACS患者血清LDL-C及冠状动脉狭窄严重程度之间的关联。对因ACS接受冠状动脉造影的阿拉伯患者进行rs599839、rs646776和rs4970834多态性的基因分型。患者分为A组(狭窄程度不显著(<50%)的ACS)和B组(狭窄程度显著(≥50%)的ACS)。

结果

rs599839中携带次要G等位基因的患者的LDL-C均值(2.58对3.44 mM,P = 0.026)显著低于纯合A等位基因携带者(GG对AA)。rs64776中次要C等位基因携带者的HDL-C均值(2.16对1.36 mM,P = 0.004)显著高于T等位基因携带者(AA对GG)。在狭窄程度显著的患者中,rs599839的G等位基因携带者显性模型的比值比和95%置信区间为0.51(0.30 - 0.92),P = 0.038。

结论

1p13.3位点的多态性rs646776和rs599839与LDL-C及其他血脂参数显著相关。此外,rs599839变异的G等位基因携带者对动脉粥样硬化有显著的保护作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0c2/4370099/3d3d5e52d4f4/BMRI2015-678924.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0c2/4370099/45412248bb34/BMRI2015-678924.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0c2/4370099/3d3d5e52d4f4/BMRI2015-678924.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0c2/4370099/45412248bb34/BMRI2015-678924.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0c2/4370099/3d3d5e52d4f4/BMRI2015-678924.002.jpg

相似文献

1
The Association between Serum LDL Cholesterol and Genetic Variation in Chromosomal Locus 1p13.3 among Coronary Artery Disease Patients.冠心病患者血清低密度脂蛋白胆固醇与染色体位点1p13.3基因变异之间的关联。
Biomed Res Int. 2015;2015:678924. doi: 10.1155/2015/678924. Epub 2015 Mar 8.
2
Significant impact of chromosomal locus 1p13.3 on serum LDL cholesterol and on angiographically characterized coronary atherosclerosis.染色体位点1p13.3对血清低密度脂蛋白胆固醇及血管造影特征性冠状动脉粥样硬化有显著影响。
Atherosclerosis. 2009 Oct;206(2):494-9. doi: 10.1016/j.atherosclerosis.2009.02.040. Epub 2009 Mar 19.
3
A meta-analysis of three identified single nucleotide polymorphisms at 1p13.3 and 1q41 and their associations with lipid levels and coronary artery disease.对1p13.3和1q41处三个已识别的单核苷酸多态性及其与血脂水平和冠状动脉疾病关联的荟萃分析。
Kaohsiung J Med Sci. 2017 Jan;33(1):1-10. doi: 10.1016/j.kjms.2016.10.011. Epub 2016 Dec 30.
4
Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease.染色体 1p13.3 上的遗传变异影响分选连接蛋白 mRNA 的表达、细胞内 LDL 的摄取以及血清 LDL 水平,进而影响冠心病的发病风险。
Atherosclerosis. 2010 Jan;208(1):183-9. doi: 10.1016/j.atherosclerosis.2009.06.034. Epub 2009 Jul 8.
5
Association between 1p13 polymorphisms and peripheral arterial disease in a Chinese population with diabetes.1p13 多态性与中国糖尿病患者外周动脉疾病的相关性。
J Diabetes Investig. 2018 Sep;9(5):1189-1195. doi: 10.1111/jdi.12804. Epub 2018 Feb 20.
6
Impact of rs599839 Polymorphism on Coronary Artery Disease Risk in Saudi Diabetic Patients.rs599839 多态性对沙特糖尿病患者冠心病风险的影响。
Dis Markers. 2024 Aug 7;2024:8278727. doi: 10.1155/2024/8278727. eCollection 2024.
7
Association of the single nucleotide polymorphism rs599839 in the vicinity of the sortilin 1 gene with LDL and triglyceride metabolism, coronary heart disease and myocardial infarction. The Ludwigshafen Risk and Cardiovascular Health Study.载脂蛋白 E 基因多态性与血脂及冠心病关系的研究。泸州医学院附属医院心血管内科研究。
Atherosclerosis. 2010 Apr;209(2):492-7. doi: 10.1016/j.atherosclerosis.2009.09.068. Epub 2009 Oct 2.
8
LDL-cholesterol concentrations: a genome-wide association study.低密度脂蛋白胆固醇浓度:一项全基因组关联研究。
Lancet. 2008 Feb 9;371(9611):483-91. doi: 10.1016/S0140-6736(08)60208-1.
9
The novel genetic variant predisposing to coronary artery disease in the region of the PSRC1 and CELSR2 genes on chromosome 1 associates with serum cholesterol.位于1号染色体上PSRC1和CELSR2基因区域的这种导致冠心病的新型基因变异与血清胆固醇有关。
J Mol Med (Berl). 2008 Nov;86(11):1233-41. doi: 10.1007/s00109-008-0387-2. Epub 2008 Jul 23.
10
Genomic risk variants at 1p13.3, 1q41, and 3q22.3 are associated with subsequent cardiovascular outcomes in healthy controls and in established coronary artery disease.位于1p13.3、1q41和3q22.3的基因组风险变异与健康对照人群以及已确诊冠状动脉疾病患者随后发生的心血管事件相关。
Circ Cardiovasc Genet. 2011 Dec;4(6):636-46. doi: 10.1161/CIRCGENETICS.111.960336. Epub 2011 Oct 7.

引用本文的文献

1
Is skimmed milk really heart-healthy?: A mediation Mendelian randomization analysis of coronary risk via serum metabolites.脱脂牛奶真的对心脏有益吗?:通过血清代谢物对冠心病风险进行中介孟德尔随机化分析。
Medicine (Baltimore). 2025 Aug 22;104(34):e42653. doi: 10.1097/MD.0000000000042653.
2
Integrative bioinformatics frameworks for abdominal aortic aneurysm using GWAS meta-analysis, biological network construction, and structural modeling.使用全基因组关联研究荟萃分析、生物网络构建和结构建模的腹主动脉瘤综合生物信息学框架。
Sci Rep. 2025 Jul 1;15(1):22331. doi: 10.1038/s41598-025-07989-1.
3
Impact of rs599839 Polymorphism on Coronary Artery Disease Risk in Saudi Diabetic Patients.

本文引用的文献

1
Diagnosis and classification of diabetes mellitus.糖尿病的诊断与分类
Diabetes Care. 2013 Jan;36 Suppl 1(Suppl 1):S67-74. doi: 10.2337/dc13-S067.
2
Chromosome 1p13 genetic variants antagonize the risk of myocardial infarction associated with high ApoB serum levels.染色体 1p13 遗传变异拮抗与高载脂蛋白 B 血清水平相关的心肌梗死风险。
BMC Cardiovasc Disord. 2012 Oct 16;12:90. doi: 10.1186/1471-2261-12-90.
3
Association of adiponectin gene polymorphism (+T45G) with acute coronary syndrome and circulating adiponectin levels.
rs599839 多态性对沙特糖尿病患者冠心病风险的影响。
Dis Markers. 2024 Aug 7;2024:8278727. doi: 10.1155/2024/8278727. eCollection 2024.
4
Association of single nucleotide polymorphisms with dyslipidemia and risk of metabolic disorders in the State of Qatar.单核苷酸多态性与血脂异常及卡塔尔代谢紊乱风险的关联。
Mol Genet Genomic Med. 2023 Aug;11(8):e2178. doi: 10.1002/mgg3.2178. Epub 2023 May 5.
5
Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels.抗凝血酶、蛋白 C 和蛋白 S:全基因组和转录组关联研究鉴定出 7 个调节血浆水平的新基因座。
Arterioscler Thromb Vasc Biol. 2023 Jul;43(7):e254-e269. doi: 10.1161/ATVBAHA.122.318213. Epub 2023 Apr 27.
6
Association between Genetic Variants of and Cardiovascular Diseases: A Systematic Review and Meta-Analysis.[具体基因名称]的基因变异与心血管疾病之间的关联:一项系统综述和荟萃分析。
J Cardiovasc Dev Dis. 2023 Feb 21;10(3):91. doi: 10.3390/jcdd10030091.
7
A Genetic Variant in Proline and Serine Rich Coiled-Coil 1 Gene Is Associated with the Risk of Cardiovascular Disease.富含脯氨酸和丝氨酸的卷曲螺旋1基因中的一个遗传变异与心血管疾病风险相关。
Rep Biochem Mol Biol. 2022 Jan;10(4):653-663. doi: 10.52547/rbmb.10.4.653.
8
Penalized mediation models for multivariate data.多元数据的惩罚中介模型。
Genet Epidemiol. 2022 Feb;46(1):32-50. doi: 10.1002/gepi.22433. Epub 2021 Oct 19.
9
Influence of PSRC1, CELSR2, and SORT1 Gene Polymorphisms on the Variability of Warfarin Dosage and Susceptibility to Cardiovascular Disease.PSRC1、CELSR2和SORT1基因多态性对华法林剂量变异性及心血管疾病易感性的影响。
Pharmgenomics Pers Med. 2020 Nov 17;13:619-632. doi: 10.2147/PGPM.S274246. eCollection 2020.
10
Association of the rs599839 Variant with Coronary Artery Disease in a Mexican Population.rs599839 变异与墨西哥人群冠心病的关联。
Medicina (Kaunas). 2020 Aug 26;56(9):427. doi: 10.3390/medicina56090427.
脂联素基因多态性(+T45G)与急性冠状动脉综合征及循环脂联素水平的关系。
Angiology. 2013 May;64(4):257-65. doi: 10.1177/0003319712455497. Epub 2012 Aug 9.
4
Oxidized low density lipoprotein, stem cells, and atherosclerosis.氧化型低密度脂蛋白、干细胞与动脉粥样硬化。
Lipids Health Dis. 2012 Jul 2;11:85. doi: 10.1186/1476-511X-11-85.
5
Genetic variants at newly identified lipid loci are associated with coronary heart disease in a Chinese Han population.新鉴定的脂质基因座的遗传变异与中国汉族人群的冠心病相关。
PLoS One. 2011;6(11):e27481. doi: 10.1371/journal.pone.0027481. Epub 2011 Nov 14.
6
Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration.脂质、糖尿病和冠心病全基因组关联研究信号的比较分析:心血管生物标志物遗传学协作组。
Eur Heart J. 2012 Feb;33(3):393-407. doi: 10.1093/eurheartj/ehr225. Epub 2011 Jul 30.
7
Genomic approaches to coronary artery disease.基因组学方法与冠状动脉疾病。
Indian J Med Res. 2010 Nov;132(5):567-78.
8
Sort1, encoded by the cardiovascular risk locus 1p13.3, is a regulator of hepatic lipoprotein export.Sort1,由心血管风险位点 1p13.3 编码,是肝脏脂蛋白输出的调节剂。
Cell Metab. 2010 Sep 8;12(3):213-23. doi: 10.1016/j.cmet.2010.08.006.
9
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus.通过位于 1p13 胆固醇基因座的 SORT1 从非编码变异到表型。
Nature. 2010 Aug 5;466(7307):714-9. doi: 10.1038/nature09266.
10
The interaction between coagulation factor 2 receptor and interleukin 6 haplotypes increases the risk of myocardial infarction in men.凝血因子 2 受体与白细胞介素 6 单倍型的相互作用增加男性心肌梗死的风险。
PLoS One. 2010 Jun 24;5(6):e11300. doi: 10.1371/journal.pone.0011300.