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本文引用的文献

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The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.代谢芯片,一种用于代谢、心血管和人体测量特征遗传研究的定制基因分型阵列。
PLoS Genet. 2012;8(8):e1002793. doi: 10.1371/journal.pgen.1002793. Epub 2012 Aug 2.
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Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study.血浆高密度脂蛋白胆固醇与心肌梗死风险:一项孟德尔随机化研究。
Lancet. 2012 Aug 11;380(9841):572-80. doi: 10.1016/S0140-6736(12)60312-2. Epub 2012 May 17.
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Eur Heart J. 2012 Jul;33(13):1635-701. doi: 10.1093/eurheartj/ehs092. Epub 2012 May 3.
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Reevaluation of the association of seven candidate genes with blood pressure and hypertension: a replication study and meta-analysis with a larger sample size.重新评估七个候选基因与血压和高血压的关联:一项更大样本量的复制研究和荟萃分析。
Hypertens Res. 2012 Aug;35(8):825-31. doi: 10.1038/hr.2012.43. Epub 2012 Mar 29.
5
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.KLHL3 突变通过损害远曲小管中的离子转运导致家族性高钾血症性高血压。
Nat Genet. 2012 Mar 11;44(4):456-60, S1-3. doi: 10.1038/ng.2218.
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Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.Kelch-like 3 和 cullin 3 基因突变导致高血压和电解质异常。
Nature. 2012 Jan 22;482(7383):98-102. doi: 10.1038/nature10814.
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The mystery of missing heritability: Genetic interactions create phantom heritability.遗传力缺失之谜:基因相互作用产生了幽灵遗传力。
Proc Natl Acad Sci U S A. 2012 Jan 24;109(4):1193-8. doi: 10.1073/pnas.1119675109. Epub 2012 Jan 5.
8
Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase.采用高密度单核苷酸多态性芯片和病例对照设计的全基因组关联研究,在内皮型一氧化氮合酶启动子区域鉴定出一个新的原发性高血压易感基因座。
Hypertension. 2012 Feb;59(2):248-55. doi: 10.1161/HYPERTENSIONAHA.111.181990. Epub 2011 Dec 19.
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Blood pressure loci identified with a gene-centric array.基于基因芯片鉴定的血压相关基因座
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10
Genetic variations in CYP17A1, CACNB2 and PLEKHA7 are associated with blood pressure and/or hypertension in She ethnic minority of China.中国畲族人群 CYP17A1、CACNB2 和 PLEKHA7 基因变异与血压和/或高血压相关。
Atherosclerosis. 2011 Dec;219(2):709-14. doi: 10.1016/j.atherosclerosis.2011.09.006. Epub 2011 Sep 16.

血压基因:理解高血压的机会。

Genes for blood pressure: an opportunity to understand hypertension.

机构信息

Cardiology, Department of Specialties of Internal Medicine, Geneva University Hospitals, Geneva, Switzerland.

出版信息

Eur Heart J. 2013 Apr;34(13):951-61. doi: 10.1093/eurheartj/ehs455. Epub 2013 Jan 9.

DOI:10.1093/eurheartj/ehs455
PMID:23303660
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3612776/
Abstract

Hypertension (HTN) is quantitatively the major cardiovascular risk factor and responsible for ∼50% of cardiovascular morbidity and mortality. Blood pressure (BP) is also a classical complex genetic trait with heritability estimates of 30-50%. Although much is known about BP regulation, the intrinsic origin of essential HTN remains obscure although many environmental factors are known. Analyses of rare monogenic syndromes of HTN have focused attention on pathways that involve renal sodium handling, and steroid hormone metabolism including the mineralocorticoid receptor activity. The genetic basis of common essential HTN on the other hand is only just becoming accessible through high-throughput approaches. Unbiased genome-wide analyses of BP genomics have identified 43 genetic variants associated with systolic, diastolic BP, and HTN. It is highly likely based on current findings that there are hundreds of such loci with small effects on BP, opening a perspective on the genetic architecture of BP that was unknown before. It is our hope that the knowledge of these and further loci will lead to improved understanding of BP pathophysiology and to the identification of new targets for drug therapy.

摘要

高血压(HTN)是心血管疾病的主要风险因素,其导致的心血管发病率和死亡率约占 50%。血压(BP)也是一种经典的复杂遗传特征,其遗传度估计为 30-50%。尽管人们对血压调节有了很多了解,但原发性高血压的内在起源仍然不清楚,尽管已经知道许多环境因素。对高血压的罕见单基因综合征的分析集中在涉及肾脏钠处理和类固醇激素代谢的途径上,包括醛固酮受体活性。另一方面,常见的原发性高血压的遗传基础仅通过高通量方法才刚刚开始被揭示。对血压基因组学的无偏基因组分析已经确定了 43 个与收缩压、舒张压和高血压相关的遗传变异。根据目前的发现,很可能有数百个这样的对血压有微小影响的位点,这为以前未知的血压遗传结构提供了一个视角。我们希望这些和其他位点的知识将有助于更好地理解血压的病理生理学,并确定新的药物治疗靶点。