K(ATP)通道多态性与高血压个体的左心室大小相关：一项基于大规模社区的研究。
K(ATP) channel polymorphism is associated with left ventricular size in hypertensive individuals: a large-scale community-based study.
作者信息
Reyes Santiago, Terzic Andre, Mahoney Douglas W, Redfield Margaret M, Rodeheffer Richard J, Olson Timothy M
机构信息
Division of Cardiovascular Diseases, Department of Medicine, Mayo Clinic, Rochester, MN, USA.
出版信息
Hum Genet. 2008 Jul;123(6):665-7. doi: 10.1007/s00439-008-0519-3. Epub 2008 May 27.
Abstract
ATP-sensitive K+ (K(ATP)) channel mutations have been identified in individuals with dilated cardiomyopathy and overt heart failure. Here, a common E23K functional polymorphism in the Kir6.2 channel pore versus cardiac phenotype was studied in a cross-sectional community-based cohort (n = 2,031). The KK genotype was associated with greater left ventricular size among subjects with increased stress load due to hypertension. These findings implicate Kir6.2 K23 as a risk factor for adverse subclinical myocardial remodeling, and underscore the significance of cardiac K(ATP) channels within the population.
摘要
在患有扩张型心肌病和明显心力衰竭的个体中已发现ATP敏感性钾离子（K(ATP)）通道突变。在此，在一个基于社区的横断面队列（n = 2031）中研究了Kir6.2通道孔中常见的E23K功能多态性与心脏表型的关系。在因高血压导致应激负荷增加的受试者中，KK基因型与更大的左心室大小相关。这些发现表明Kir6.2 K23是亚临床心肌不良重塑的一个危险因素，并强调了心脏K(ATP)通道在人群中的重要性。
相似文献
1
K(ATP) channel polymorphism is associated with left ventricular size in hypertensive individuals: a large-scale community-based study.K(ATP)通道多态性与高血压个体的左心室大小相关：一项基于大规模社区的研究。
Hum Genet. 2008 Jul;123(6):665-7. doi: 10.1007/s00439-008-0519-3. Epub 2008 May 27.
2
KATP channel Kir6.2 E23K variant overrepresented in human heart failure is associated with impaired exercise stress response.KATP 通道 Kir6.2 E23K 变异体在人类心力衰竭中过度表达，与运动应激反应受损有关。
Hum Genet. 2009 Dec;126(6):779-89. doi: 10.1007/s00439-009-0731-9.
3
Relationship between dilated cardiomyopathy and the E23K and I337V polymorphisms in the Kir6.2 subunit of the KATP channel.扩张型心肌病与KATP通道Kir6.2亚基中E23K和I337V多态性之间的关系。
Genet Mol Res. 2013 Oct 10;12(4):4383-92. doi: 10.4238/2013.October.10.4.
4
KCNJ11 gene knockout of the Kir6.2 KATP channel causes maladaptive remodeling and heart failure in hypertension.KCNJ11基因敲除Kir6.2钾离子通道会导致高血压中的适应性重塑和心力衰竭。
Hum Mol Genet. 2006 Aug 1;15(15):2285-97. doi: 10.1093/hmg/ddl154. Epub 2006 Jun 16.
5
The E23K variant of the Kir6.2 subunit of the ATP-sensitive potassium channel increases susceptibility to ventricular arrhythmia in response to ischemia in rats.ATP敏感性钾通道Kir6.2亚基的E23K变体增加了大鼠对缺血性室性心律失常的易感性。
Int J Cardiol. 2017 Apr 1;232:192-198. doi: 10.1016/j.ijcard.2017.01.022. Epub 2017 Jan 4.
6
Protection conferred by myocardial ATP-sensitive K+ channels in pressure overload-induced congestive heart failure revealed in KCNJ11 Kir6.2-null mutant.KCNJ11 Kir6.2基因敲除突变体揭示心肌ATP敏感性钾通道在压力超负荷诱导的充血性心力衰竭中的保护作用。
J Physiol. 2006 Dec 15;577(Pt 3):1053-65. doi: 10.1113/jphysiol.2006.119511. Epub 2006 Oct 12.
7
Kir6.2 variant E23K increases ATP-sensitive K+ channel activity and is associated with impaired insulin release and enhanced insulin sensitivity in adults with normal glucose tolerance.Kir6.2变体E23K增加ATP敏感性钾通道活性，并与糖耐量正常的成年人胰岛素释放受损和胰岛素敏感性增强有关。
Diabetes. 2009 Aug;58(8):1869-78. doi: 10.2337/db09-0025. Epub 2009 Jun 2.
8
Mechanical dyssynchrony precedes QRS widening in ATP-sensitive K⁺ channel-deficient dilated cardiomyopathy.机械不同步先于 ATP 敏感性钾通道缺陷性扩张型心肌病的 QRS 波增宽。
J Am Heart Assoc. 2013 Dec 5;2(6):e000410. doi: 10.1161/JAHA.113.000410.
9
Polymorphism E23K (rs5219) in the KCNJ11 gene in Euro-Brazilian subjects with type 1 and 2 diabetes.欧洲裔巴西1型和2型糖尿病患者KCNJ11基因中的E23K（rs5219）多态性。
Genet Mol Res. 2017 Apr 5;16(2):gmr-16-02-gmr.16029543. doi: 10.4238/gmr16029543.
10
KCNJ11 E23K polymorphism and diabetes mellitus with adult onset in Czech patients.捷克患者中KCNJ11基因E23K多态性与成人发病型糖尿病
Folia Biol (Praha). 2007;53(5):173-5.
引用本文的文献
1
Association of E23K/rs5219 Gene Polymorphism with Type 2 Diabetes and Diabetes-Related Cardiovascular Disease.E23K/rs5219基因多态性与2型糖尿病及糖尿病相关心血管疾病的关联
Diabetes Metab Syndr Obes. 2025 Feb 27;18:653-661. doi: 10.2147/DMSO.S506639. eCollection 2025.
2
The Pharmacology of ATP-Sensitive K Channels (K).三磷酸腺苷敏感性钾通道（K）的药理学。
Handb Exp Pharmacol. 2021;267:357-378. doi: 10.1007/164_2021_466.
3
Association of KATP Gene Polymorphisms with Dyslipidemia and Ischemic Stroke Risks Among Hypertensive Patients in South China.中国南方高血压患者的 KATP 基因多态性与血脂异常和缺血性卒中风险的相关性研究。
J Mol Neurosci. 2021 Oct;71(10):2142-2151. doi: 10.1007/s12031-020-01761-y. Epub 2021 Jan 5.
4
Genetic Discovery of ATP-Sensitive K Channels in Cardiovascular Diseases.心血管疾病中 ATP 敏感性钾通道的遗传学发现。
Circ Arrhythm Electrophysiol. 2019 May;12(5):e007322. doi: 10.1161/CIRCEP.119.007322.
5
Functional protection against cardiac diseases depends on ATP-sensitive potassium channels.功能保护对抗心脏病依赖于三磷酸腺苷敏感钾通道。
J Cell Mol Med. 2018 Dec;22(12):5801-5806. doi: 10.1111/jcmm.13893. Epub 2018 Sep 14.
6
Plasticity of sarcolemmal KATP channel surface expression: relevance during ischemia and ischemic preconditioning.肌膜KATP通道表面表达的可塑性：缺血及缺血预处理过程中的相关性
Am J Physiol Heart Circ Physiol. 2016 Jun 1;310(11):H1558-66. doi: 10.1152/ajpheart.00158.2016. Epub 2016 Apr 1.
7
KATP Channels in the Cardiovascular System.心血管系统中的钾离子通道。
Physiol Rev. 2016 Jan;96(1):177-252. doi: 10.1152/physrev.00003.2015.
8
Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.外显子组测序鉴定出一名散发型扩张型心肌病患儿的致病和修饰突变。
J Am Heart Assoc. 2015 Dec 9;4(12):e002443. doi: 10.1161/JAHA.115.002443.
9
Modulation of the QT interval duration in hypertension with antihypertensive treatment.抗高血压治疗对高血压患者QT间期持续时间的调节作用。
Hypertens Res. 2015 Jul;38(7):447-54. doi: 10.1038/hr.2015.30. Epub 2015 Mar 19.
10
Advances in cardiac ATP-sensitive K+ channelopathies from molecules to populations.心脏ATP敏感性钾通道病从分子到群体的研究进展
Circ Arrhythm Electrophysiol. 2011 Aug;4(4):577-85. doi: 10.1161/CIRCEP.110.957662.
本文引用的文献
1
KCNJ11 E23K affects diabetes risk and is associated with the disposition index: results of two independent German cohorts.KCNJ11基因E23K位点影响糖尿病风险并与处置指数相关：两个独立德国队列的研究结果
Diabetes Care. 2008 Jan;31(1):87-9. doi: 10.2337/dc07-1157. Epub 2007 Sep 26.
2
KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.ATP敏感性钾通道突变会增加马歇尔静脉肾上腺素能性心房颤动的风险。
Nat Clin Pract Cardiovasc Med. 2007 Feb;4(2):110-6. doi: 10.1038/ncpcardio0792.
3
Protection conferred by myocardial ATP-sensitive K+ channels in pressure overload-induced congestive heart failure revealed in KCNJ11 Kir6.2-null mutant.KCNJ11 Kir6.2基因敲除突变体揭示心肌ATP敏感性钾通道在压力超负荷诱导的充血性心力衰竭中的保护作用。
J Physiol. 2006 Dec 15;577(Pt 3):1053-65. doi: 10.1113/jphysiol.2006.119511. Epub 2006 Oct 12.
4
Effects of sulfonylureas on left ventricular mass in type 2 diabetic patients.磺脲类药物对2型糖尿病患者左心室质量的影响。
Am J Physiol Heart Circ Physiol. 2007 Jan;292(1):H608-13. doi: 10.1152/ajpheart.00516.2006. Epub 2006 Aug 25.
5
KCNJ11 gene knockout of the Kir6.2 KATP channel causes maladaptive remodeling and heart failure in hypertension.KCNJ11基因敲除Kir6.2钾离子通道会导致高血压中的适应性重塑和心力衰竭。
Hum Mol Genet. 2006 Aug 1;15(15):2285-97. doi: 10.1093/hmg/ddl154. Epub 2006 Jun 16.
6
Single nucleotide polymorphisms in K(ATP) channels: muscular impact on type 2 diabetes.钾离子ATP通道中的单核苷酸多态性：对2型糖尿病的肌肉影响
Diabetes. 2005 May;54(5):1592-7. doi: 10.2337/diabetes.54.5.1592.
7
Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes.E23K Kir6.2基因多态性的现状：对2型糖尿病的影响
Hum Genet. 2005 Feb;116(3):133-45. doi: 10.1007/s00439-004-1216-5. Epub 2004 Nov 23.
8
Genetic polymorphisms and heart failure.基因多态性与心力衰竭
Genet Med. 2004 Nov-Dec;6(6):465-74. doi: 10.1097/01.gim.0000144061.70494.95.
9
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.在人类扩张型心肌病中鉴定出的ABCC9突变会破坏催化性ATP敏感性钾通道的门控。
Nat Genet. 2004 Apr;36(4):382-7. doi: 10.1038/ng1329. Epub 2004 Mar 21.
10
Burden of systolic and diastolic ventricular dysfunction in the community: appreciating the scope of the heart failure epidemic.社区中收缩期和舒张期心室功能障碍的负担：认识心力衰竭流行的范围。
JAMA. 2003 Jan 8;289(2):194-202. doi: 10.1001/jama.289.2.194.
Zotero 插件