8-4-1 ⓔ文献

  1. Ozaki K, Ohnishi Y, et al: Functional SNPs in the lymphotoxin–α gene that are associated with susceptibility to myocardial infarction. Nat Genet, 2002; 32: 650–654.

  2. International HapMap Consortium: The international HapMap project. Nature, 2003; 426: 789–796.

  3. 1000 Genomes Project Consortium, Auton A, et al: A global reference for human genetic variation. Nature, 2015; 526: 68–74.

  4. Musunuru K, Kathiresan S: Genetics of common, complex coronary artery disease. Cell, 2019; 177: 132–145.

  5. Lo Sardo V, Chubukov P, et al: Unveiling the role of the most impactful cardiovascular risk locus through haplotype editing. Cell, 2018; 175: 1796–1810.

  6. Kojima Y, Downing K, et al: Cyclin–dependent kinase inhibitor 2B regulates efferocytosis and atherosclerosis. J Clin Invest, 2014; 124: 1083–1097.

  7. Beaudoin M, Gupta RM, et al: Myocardial infarction-associated SNP at 6p24 interferes with MEF2 binding and associates with PHACTR1 expression levels in human coronary arteries. Arterioscler Thromb Vasc Biol, 2015; 35: 1472–1479.

  8. Gupta RM, Hadaya J, et al: A genetic variant associated with five vascular diseases is a distal regulator of endothelin–1 gene expression. Cell, 2017; 170: 522–533.

  9. Mayhew AJ, Meyre D: Assessing the heritability of complex traits in humans: methodological challenges and opportunities. Curr Genomics, 2017; 18: 332–340.

  10. Marenberg ME, Risch N, et al: Genetic susceptibility to death from coronary heart disease in a study of twins. N Engl J Med, 1994; 330: 1041–1046.

  11. van der Harst P, Verweij N: Identification of 64 novel genetic loci provides an expanded view on the genetic architecture of coronary artery disease. Circ Res, 2018; 122: 433–443.

  12. Génin E: Missing heritability of complex diseases: case solved? Hum Genet, 2020; 139: 103–113.

  13. Shapiro MD, Tavori H, et al: PCSK9: from basic science discoveries to clinical trials. Circ Res, 2018; 122: 1420–1438.

  14. Pirmohamed M, Burnside G, et al: A randomized trial of genotype–guided dosing of warfarin. N Engl J Med, 2013; 369: 2294–2303.

  15. Torkamani A, Wineinger NE, et al: The personal and clinical utility of polygenic risk scores. Nat Rev Genet, 2018; 19: 581–590.