补体因子H基因的遗传变异与早发性冠心病无关：爱尔兰人群的一项基于家族的研究。
Genetic variants of complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population.
作者信息
Meng Weihua, Hughes Anne, Patterson Chris C, Belton Christine, Kamaruddin Muhammad S, Horan Paul G, Kee Frank, McKeown Pascal P
机构信息
Centre for Clinical and Population Sciences, Queen's University Belfast, Institute of Clinical Science, Grosvenor Road, Belfast, BT12 6BJ, Northern Ireland, UK.
出版信息
BMC Med Genet. 2007 Sep 18;8:62. doi: 10.1186/1471-2350-8-62.
Abstract
BACKGROUND
The complement factor H (CFH) gene has been recently confirmed to play an essential role in the development of age-related macular degeneration (AMD). There are conflicting reports of its role in coronary heart disease. This study was designed to investigate if, using a family-based approach, there was an association between genetic variants of the CFH gene and risk of early-onset coronary heart disease.
METHODS
We evaluated 6 SNPs and 5 common haplotypes in the CFH gene amongst 1494 individuals in 580 Irish families with at least one member prematurely affected with coronary heart disease. Genotypes were determined by multiplex SNaPshot technology.
RESULTS
Using the TDT/S-TDT test, we did not find an association between any of the individual SNPs or any of the 5 haplotypes and early-onset coronary heart disease.
CONCLUSION
In this family-based study, we found no association between the CFH gene and early-onset coronary heart disease.
摘要
背景
补体因子H（CFH）基因最近已被证实与年龄相关性黄斑变性（AMD）的发生发展密切相关。关于其在冠心病中的作用，报道存在矛盾。本研究旨在采用基于家系的方法，探讨CFH基因的遗传变异与早发性冠心病风险之间是否存在关联。
方法
我们对580个爱尔兰家庭中至少有一名成员过早患冠心病的1494名个体的CFH基因中的6个单核苷酸多态性（SNP）和5种常见单倍型进行了评估。通过多重SNaPshot技术确定基因型。
结果
使用传递不平衡检验（TDT）/家系传递不平衡检验（S-TDT），我们未发现任何单个SNP或5种单倍型中的任何一种与早发性冠心病之间存在关联。
结论
在这项基于家系的研究中，我们发现CFH基因与早发性冠心病之间无关联。
相似文献
1
Genetic variants of complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population.补体因子H基因的遗传变异与早发性冠心病无关：爱尔兰人群的一项基于家族的研究。
BMC Med Genet. 2007 Sep 18;8:62. doi: 10.1186/1471-2350-8-62.
2
Chromosome 9p21.3 is associated with early-onset coronary heart disease in the Irish population.9号染色体短臂21.3区与爱尔兰人群早发性冠心病相关。
Dis Markers. 2008;25(2):81-5. doi: 10.1155/2008/375617.
3
CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans.CFH单倍型以及ARMS2、C2、C3和CFB等位基因显示与墨西哥人年龄相关性黄斑变性易感性相关。
Mol Vis. 2014 Jan 14;20:105-16. eCollection 2014.
4
5
Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.在 CFH 基因座的常见单倍型和 CFHR2 和 CFHR5 中的低频变异与系统性 FHR 浓度和年龄相关性黄斑变性相关。
Am J Hum Genet. 2021 Aug 5;108(8):1367-1384. doi: 10.1016/j.ajhg.2021.06.002. Epub 2021 Jul 13.
6
CFH polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration.西班牙北部患有新生血管性和干性年龄相关性黄斑变性人群中的CFH基因多态性
Acta Ophthalmol. 2015 Dec;93(8):e658-66. doi: 10.1111/aos.12790. Epub 2015 Jul 8.
7
Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population.汉族人群中补体因子 H、C2、CFB 和 C3 与年龄相关性黄斑变性的相关性研究。
Retina. 2010 Sep;30(8):1177-84. doi: 10.1097/IAE.0b013e3181cea676.
8
A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration.补体因子H中Y402H变异体、C反应蛋白基因变异与年龄相关性黄斑变性风险的前瞻性评估。
Invest Ophthalmol Vis Sci. 2006 Jun;47(6):2336-40. doi: 10.1167/iovs.05-1456.
9
Genetic variation in complement factor H and risk of coronary heart disease: eight new studies and a meta-analysis of around 48,000 individuals.补体因子 H 基因变异与冠心病风险：8 项新研究和近 48000 人的荟萃分析。
Atherosclerosis. 2010 Nov;213(1):184-90. doi: 10.1016/j.atherosclerosis.2010.07.021. Epub 2010 Jul 29.
10
Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.补体因子H（CFH）基因中的单倍型：与玻璃膜疣及晚期年龄相关性黄斑变性的关联
PLoS One. 2007 Nov 28;2(11):e1197. doi: 10.1371/journal.pone.0001197.
引用本文的文献
1
Chronic kidney disease enhances alternative pathway activity: a new paradigm.慢性肾脏病增强替代途径活性：一种新范式。
J Clin Invest. 2025 May 1;135(9). doi: 10.1172/JCI188353.
2
Plasma Proteomic Changes of Atherosclerosis after Exercise in ApoE Knockout Mice.载脂蛋白E基因敲除小鼠运动后动脉粥样硬化的血浆蛋白质组学变化
Biology (Basel). 2022 Feb 6;11(2):253. doi: 10.3390/biology11020253.
3
Association between KIF6 rs20455 polymorphism and the risk of coronary heart disease (CHD): a pooled analysis of 50 individual studies including 40,059 cases and 64,032 controls.KIF6 rs20455 多态性与冠心病（CHD）风险的关联：包括 50 项个体研究的汇总分析，共纳入 40059 例病例和 64032 例对照。
Lipids Health Dis. 2018 Jan 5;17(1):4. doi: 10.1186/s12944-017-0651-y.
4
The Trp719Arg polymorphism of the KIF6 gene and coronary heart disease risk: systematic review and meta-analysis.KIF6基因的Trp719Arg多态性与冠心病风险：系统评价和荟萃分析。
Hereditas. 2015 Oct 22;152:3. doi: 10.1186/s41065-015-0004-7. eCollection 2015.
5
Acute and long-term effect of percutaneous coronary intervention on serially-measured oxidative, inflammatory, and coagulation biomarkers in patients with stable angina.经皮冠状动脉介入治疗对稳定性心绞痛患者连续测量的氧化、炎症和凝血生物标志物的急性和长期影响。
J Thromb Thrombolysis. 2016 May;41(4):569-80. doi: 10.1007/s11239-016-1351-6.
6
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies.在 19 项病例对照研究中，驱动蛋白样蛋白-6 的 Trp719Arg 多态性与冠心病之间缺乏关联。
J Am Coll Cardiol. 2010 Nov 2;56(19):1552-63. doi: 10.1016/j.jacc.2010.06.022.
7
Complement factor H Y402H gene polymorphism and coronary heart disease susceptibility: a meta-analysis.补体因子 H Y402H 基因多态性与冠心病易感性的关系：荟萃分析。
Mol Biol Rep. 2011 Jun;38(5):2933-8. doi: 10.1007/s11033-010-9956-x. Epub 2010 Feb 3.
8
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.早发性心肌梗死与单核苷酸多态性和拷贝数变异的全基因组关联研究
Nat Genet. 2009 Mar;41(3):334-41. doi: 10.1038/ng.327. Epub 2009 Feb 8.
9
Complement factor H: using atomic resolution structure to illuminate disease mechanisms.补体因子H：利用原子分辨率结构阐明疾病机制。
Adv Exp Med Biol. 2008;632:117-42.
10
Complement factor H Y402H polymorphism, plasma concentration and risk of coronary artery disease.补体因子H Y402H多态性、血浆浓度与冠状动脉疾病风险
Mol Biol Rep. 2009 Jul;36(6):1257-61. doi: 10.1007/s11033-008-9306-4. Epub 2008 Jul 6.
本文引用的文献
1
Nonvalidation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study.一项大规模重复研究中急性冠状动脉综合征报告的遗传风险因素未得到验证。
JAMA. 2007 Apr 11;297(14):1551-61. doi: 10.1001/jama.297.14.1551.
2
Lack of association between complement factor H polymorphisms and coronary artery disease or myocardial infarction.补体因子H基因多态性与冠状动脉疾病或心肌梗死之间不存在关联。
J Mol Med (Berl). 2007 Jul;85(7):771-5. doi: 10.1007/s00109-007-0185-2. Epub 2007 Mar 30.
3
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.一种常见的CFH单倍型，伴有CFHR1和CFHR3缺失，与年龄相关性黄斑变性的较低风险相关。
Nat Genet. 2006 Oct;38(10):1173-7. doi: 10.1038/ng1890. Epub 2006 Sep 24.
4
Genetic susceptibility to myocardial infarction and coronary artery disease.心肌梗死和冠状动脉疾病的遗传易感性。
Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R117-23. doi: 10.1093/hmg/ddl183.
5
Complement factor H Y402H gene polymorphism in coronary artery disease and atherosclerosis.
Atherosclerosis. 2006 Sep;188(1):213-4. doi: 10.1016/j.atherosclerosis.2006.04.013. Epub 2006 May 30.
6
A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study.补体因子H基因中的一种常见多态性与心肌梗死风险增加相关：鹿特丹研究。
J Am Coll Cardiol. 2006 Apr 18;47(8):1568-75. doi: 10.1016/j.jacc.2005.11.076. Epub 2006 Mar 29.
7
Complement factor H Y402H gene polymorphism, C-reactive protein, and risk of incident myocardial infarction, ischaemic stroke, and venous thromboembolism: a nested case-control study.补体因子H Y402H基因多态性、C反应蛋白与心肌梗死、缺血性中风和静脉血栓栓塞事件风险：一项巢式病例对照研究
Atherosclerosis. 2006 Aug;187(2):332-5. doi: 10.1016/j.atherosclerosis.2005.09.009. Epub 2005 Oct 17.
8
Bruch's membrane and the vascular intima: is there a common basis for age-related changes and disease?布鲁赫膜与血管内膜：年龄相关变化和疾病是否存在共同基础？
Clin Exp Ophthalmol. 2005 Oct;33(5):518-23. doi: 10.1111/j.1442-9071.2005.01074.x.
9
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.补体调节基因因子H（HF1/CFH）中的一种常见单倍型使个体易患年龄相关性黄斑变性。
Proc Natl Acad Sci U S A. 2005 May 17;102(20):7227-32. doi: 10.1073/pnas.0501536102. Epub 2005 May 3.
10
Complement factor H polymorphism in age-related macular degeneration.年龄相关性黄斑变性中的补体因子H多态性
Science. 2005 Apr 15;308(5720):385-9. doi: 10.1126/science.1109557. Epub 2005 Mar 10.
Zotero 插件