期刊文献+

心血管疾病易感基因分子预警

下载PDF
导出
摘要 心血管疾病(CVD)是由遗传和环境因素共同作用所致的一种多基因疾病。近年来,基于候选基因分析和全基因组关联研究已发现了一系列与CVD相关的易感基因,这些易感基因能否成为CVD早期诊断的指标和预防的靶点已成为研究者关注的焦点。了解CVD相关的易感基因研究现状和问题,对更好地解释其遗传变异,进一步应用于临床尤为重要。
作者 汪俊军
出处 《临床检验杂志》 CAS CSCD 北大核心 2014年第5期321-323,共3页 Chinese Journal of Clinical Laboratory Science
基金 国家自然科学基金(81271904) 国家重大科学仪器设备开发专项(子任务:2012YQ03026109)
  • 相关文献

参考文献23

  • 1Go AS, Mozaffarian D, Roger VL, et al. Heart disease and stroke statistics-2014 update: a report from the American Heart Associa- tion[J]. Circulation, 2014, 129(3) :e28-e292.
  • 2Puckelwartz MJ, McNally EM. Genetic profiling for risk reduction in human cardiovascular disease [ J ]. Genes, 2014, 5 ( 1 ) :214-234.
  • 3Marenberg ME, Risch N, Berkman LF, et al. Genetic susceptibility to death from coronary heart disease in a study of twins [ J ]. N Engl J Med, 1994, 330( 15 ) : 1041-1046.
  • 4Cambien F, Poirier O, Lecerf L, et al. Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myo- cardial infarction [ J ]. Nature, 1992, 359 ( 6396 ) :641-644.
  • 5Iacoviello L, Di Castelnuovo A, De Knijff P, et al. Polymorphisms in the coagulation factor VII gene and the risk of myocardial infarction [J]. N Engl J Med, 1998, 338(2) :79-85.
  • 6Ozaki K, Ohnishi Y, Iida A, et al. Functional SNPs in the lympho- toxin-or gene that are associated with susceptibility to myocardial in- farction[J]. Nat Genet, 2002, 32(4):650-654.
  • 7胡绘,干学东,熊陈岭,郑芳.1个遗传性长QT间期综合征家系成员的遗传位点检测[J].临床检验杂志,2014,32(5):329-332. 被引量:1
  • 8Iacoviello L, Di Castelnuovo A, Gattone M, et al. Polymorphisms of the interleukin-113 gene affect the risk of myocardial infarction and is- chemic stroke at young age and the response of mononuclear cells to stimulation in vitro [ J ]. Arterioscler Thromb Vasc Biol, 2005, 25 ( 1 ) :222-227.
  • 9王海红,王春梅,徐胜媛,孙立元,关啸,鲁昆,潘晓冬,刘飒,杨士伟,王绿娅.1例家族性高胆固醇血症患者低密度脂蛋白受体基因新突变体功能研究[J].临床检验杂志,2014,32(5):324-328. 被引量:3
  • 10Venter JC, Adams MD, Myers EW, et al. The sequence of the hu- man genome[J]. Science, 2001,291(5507):1304-1351.

二级参考文献23

  • 1Daniel D Anselm,Jennifer M Evans,Adrian Baranchuk.Brugada phenocopy: A new electrocardiogram phenomenon[J].World Journal of Cardiology,2014,6(3):81-86. 被引量:2
  • 2李萍,李翠兰,胡大一,刘文玲,秦绪光,李运田,李志明,李蕾.长QT综合征KCNQ1基因突变筛查方法[J].中华医学遗传学杂志,2004,21(3):236-239. 被引量:6
  • 3陆宗良. 脂质代谢异常与冠心病[A]. 见: 陈在嘉,主编. 临床冠心病学[M].北京: 人民军医出版社,1998:77.
  • 4Austin MA, Hutter CM, Zimmern RL, et al. Genetic causes of mon- ogenic hetemzygous familial hypercholesterolemia: a huge prevalence review[J]. Am J Epidemiol, 2004, 160(5) :407-420.
  • 5Benn M, Watts GF, Tybjaerg-Hansen A, et al. Familial hypercholes- terolemia in the Danish general population: prevalence, coronary ar- tery disease, and cholesterol-lowering medication [ J ]. J Clin Endo- crinol Metab, 2012, 97( 11 ) :3956 - 3964.
  • 6Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hy- percholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease [J]. Eur Heart J, 2013,34(45) :3478-3490.
  • 7Usifo E, Leigh SE, Whittall RA, et al. Low-density lipoprotein re- ceptor gene familial hypercholesterolemia variant database: update and pathological assessment[J]. Ann Hum Genet, 2012, 76 (5) : 387-401.
  • 8Gent J, Braakman I. Low-density lipoprotein receptor structure and folding[ J]. Cell Mol Life Sci, 2004, 61 (19-20) :2461-2470.
  • 9Schroder M, Kaufman RJ. ER stress and the unfolded protein re- sponse[J]. Mutat Res, 2005, 569(1-2):29-63.
  • 10Rudenko G, Henry L, Henderson K,et al. Structure of the LDL re- ceptor extracellular domain at endosomal pH[ J ]. Science, 2002, 298 ( 5602 ) :2353-2358.

共引文献5

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部