ANGPTL3 Deficiency and Protection Against Coronary Artery Disease

Journal of the American College of Cardiology

Volumn 69, Issue 16, 2017, Pages 2054-2063

  Stitziel, Nathan O ^a   Khera, Amit V ^b,c   Wang, Xiao ^d   Bierhals, Andrew J ^e   Vourakis, A Christina ^f   Sperry, Alexandra E ^f   Natarajan, Pradeep ^b,c   Klarin, Derek ^b   Emdin, Connor A ^b,c   Zekavat, Seyedeh M ^c   Nomura, Akihiro ^b,c   Erdmann, Jeanette ^g,h   Schunkert, Heribert ^h,i   Samani, Nilesh J ^j,k   Kraus, William E ^l   Shah, Svati H ^l   Yu, Bing ^m,n   Boerwinkle, Eric ^m,n   Rader, Daniel J ^d   Gupta, Namrata ^c   Frossard, Philippe M ^o   Rasheed, Asif ^o   Danesh, John ^p,q   Lander, Eric S ^c   Gabriel, Stacey ^c   Saleheen, Danish ^d,o   Musunuru, Kiran ^d   Kathiresan, Sekar ^b,c   more..

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f HARVARD COLLEGE   (United States)

^g UNIVERSITY OF LÜBECK   (Germany)

^h DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

ⁱ TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^j UNIVERSITY OF LEICESTER   (United Kingdom)

^k GLENFIELD HOSPITAL   (United Kingdom)

^l DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m UNIVERSITY OF TEXAS   (United States)

ⁿ BAYLOR COLLEGE OF MEDICINE   (United States)

^o Center for Non Communicable Diseases   (Pakistan)

^p UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^q WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

more..

Author keywords

human genetics; loss of function mutations; myocardial infarction

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL; ANGIOPOIETIN; ANGPTL3 PROTEIN, HUMAN; LIPID;

ANGPTL3 GENE; ARTICLE; CHOLESTEROL BLOOD LEVEL; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; CORONARY ARTERY ATHEROSCLEROSIS; FIRST-DEGREE RELATIVE; FRAMESHIFT MUTATION; GENE; GENE ACTIVITY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HEART INFARCTION; HETEROZYGOTE; LIMIT OF QUANTITATION; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; NONSENSE MUTATION; POPULATION RESEARCH; PROTEIN BLOOD LEVEL; SPLICE SITE VARIANT MUTATION; TRIACYLGLYCEROL BLOOD LEVEL; ADULT; ANIMAL; ATHEROSCLEROSIS; BLOOD; C57BL MOUSE; CASE CONTROL STUDY; CORONARY ARTERY DISEASE; DEFICIENCY; FEMALE; GENETICS; HUMAN; KNOCKOUT MOUSE; MALE; MIDDLE AGED; RISK FACTOR;

ADULT; ANGIOPOIETINS; ANIMALS; ATHEROSCLEROSIS; CASE-CONTROL STUDIES; CORONARY ARTERY DISEASE; FEMALE; HUMANS; LIPIDS; MALE; MICE, INBRED C57BL; MICE, KNOCKOUT; MIDDLE AGED; MUTATION, MISSENSE; MYOCARDIAL INFARCTION; RISK FACTORS;

EID: 85017346052     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2017.02.030     Document Type: Article

References (43)

1. 1 Musunuru, K., Pirruccello, J.P., Do, R., et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med 363 (2010), 2220–2227.
2. 2 Koishi, R., Ando, Y., Ono, M., et al. Angptl3 regulates lipid metabolism in mice. Nat Genet 30 (2002), 151–157.
3. 3 Shimizugawa, T., Ono, M., Shimamura, M., et al. ANGPTL3 decreases very low density lipoprotein triglyceride clearance by inhibition of lipoprotein lipase. J Biol Chem 277 (2002), 33742–33748.
4. 4 Shimamura, M., Matsuda, M., Yasumo, H., et al. Angiopoietin-like protein3 regulates plasma HDL cholesterol through suppression of endothelial lipase. Arterioscler Thromb Vasc Biol 27 (2007), 366–372.
5. 5 Gusarova, V., Alexa, C.A., Wang, Y., et al. ANGPTL3 blockade with a human monoclonal antibody reduces plasma lipids in dyslipidemic mice and monkeys. J Lipid Res 56 (2015), 1308–1317.
6. 6 Sehgal, A., Vaishnaw, A., Fitzgerald, K., Liver as a target for oligonucleotide therapeutics. J Hepatol 59 (2013), 1354–1359.
7. 7 Ando, Y., Shimizugawa, T., Takeshita, S., et al. A decreased expression of angiopoietin-like 3 is protective against atherosclerosis in apoE-deficient mice. J Lipid Res 44 (2003), 1216–1223.
8. 8 Minicocci, I., Santini, S., Cantisani, V., et al. Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis. J Lipid Res 54 (2013), 3481–3490.
9. 9 Atherosclerosis, Thrombosis, and Vascular Biology Italian Study Group. No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age. Circulation 107 (2003), 1117–1122.
10. 10 Do, R., Stitziel, N.O., Won, H.H., et al. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature 518 (2015), 102–106.
11. 11 Crosby, J., Peloso, G.M., Auer, P.L., et al. Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med 371 (2014), 22–31.
12. 12 McPherson, R., Pertsemlidis, A., Kavaslar, N., et al. A common allele on chromosome 9 associated with coronary heart disease. Science 316 (2007), 1488–1491.
13. 13 Clarke, R., Peden, J.F., Hopewell, J.C., et al. Genetic variants associated with Lp(a) lipoprotein level and coronary disease. N Engl J Med 361 (2009), 2518–2528.
14. 14 Saleheen, D., Zaidi, M., Rasheed, A., et al. The Pakistan Risk of Myocardial Infarction Study: a resource for the study of genetic, lifestyle and other determinants of myocardial infarction in South Asia. Eur J Epidemiol 24 (2009), 329–338.
15. 15 Senti, M., Tomas, M., Marrugat, J., Elosua, R., REGICOR Investigators. Paraoxonase1-192 polymorphism modulates the nonfatal myocardial infarction risk associated with decreased HDLs. Arterioscler Thromb Vasc Biol 21 (2001), 415–420.
16. 16 Stitziel, N.O., Stirrups, K.E., Masca, N.G., et al. Coding variation in ANGPTL4, LPL, and SVEP1 and the risk of coronary disease. [published correction appears in N Engl J Med 2016;374:1898] N Engl J Med 374 (2016), 1134–1144.
17. 17 Peloso, G.M., Lange, L.A., Varga, T.V., et al. Association of exome sequences with cardiovascular traits among blacks in the Jackson Heart Study. Circ Cardiovasc Genet 9 (2016), 368–374.
18. 18 Baber, U., Mehran, R., Sartori, S., et al. Prevalence, impact, and predictive value of detecting subclinical coronary and carotid atherosclerosis in asymptomatic adults: the BioImage study. J Am Coll Cardiol 65 (2015), 1065–1074.
19. 19 Li, A.H., Morrison, A.C., Kovar, C., et al. Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease. Nat Genet 47 (2015), 640–642.
20. 20 Davies, R.W., Wells, G.A., Stewart, A.F., et al. A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex. Circ Cardiovasc Genet 5 (2012), 217–225.
21. 21 Helgadottir, A., Gretarsdottir, S., Thorleifsson, G., et al. Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease. Nat Genet 48 (2016), 634–639.
22. 22 Sudlow, C., Gallacher, J., Allen, N., et al. UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med, 12, 2015, e1001779.
23. 23 Reilly, M.P., Li, M., He, J., et al. Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. Lancet 377 (2011), 383–392.
24. 24 Samani, N.J., Erdmann, J., Hall, A.S., et al. Genomewide association analysis of coronary artery disease. N Engl J Med 357 (2007), 443–453.
25. 25 Boyko, A.R., Williamson, S.H., Indap, A.R., et al. Assessing the evolutionary impact of amino acid mutations in the human genome. PLoS Genet, 4, 2008, e1000083.
26. 26 Yampolsky, L.Y., Kondrashov, F.A., Kondrashov, A.S., Distribution of the strength of selection against amino acid replacements in human proteins. Hum Mol Genet 14 (2005), 3191–3201.
27. 27 Mehta, N., Qamar, A., Qu, L., et al. Differential association of plasma angiopoietin-like proteins 3 and 4 with lipid and metabolic traits. Arterioscler Thromb Vasc Biol 34 (2014), 1057–1063.
28. 28 Baigent, C., Keech, A., Kearney, P.M., et al. Efficacy and safety of cholesterol-lowering treatment: prospective meta-analysis of data from 90,056 participants in 14 randomised trials of statins. [published corrections appear in Lancet 2005;366:1358 and Lancet 2008;371:2084] Lancet 366 (2005), 1267–1278.
29. 29 Tobin, M.D., Sheehan, N.A., Scurrah, K.J., Burton, P.R., Adjusting for treatment effects in studies of quantitative traits: antihypertensive therapy and systolic blood pressure. Stat Med 24 (2005), 2911–2935.
30. 30 Stitziel, N.O., Won, H.H., Morrison, A.C., et al. Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med 371 (2014), 2072–2082.
31. 31 Martin-Campos, J.M., Roig, R., Mayoral, C., et al. Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation. Clin Chim Acta 413 (2012), 552–555.
32. 32 Minicocci, I., Montali, A., Robciuc, M.R., et al. Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization. J Clin Endocrinol Metab 97 (2012), E1266–E1275.
33. 33 Pisciotta, L., Favari, E., Magnolo, L., et al. Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3. Circ Cardiovasc Genet 5 (2012), 42–50.
34. 34 Noto, D., Cefalu, A.B., Valenti, V., et al. Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia. Arterioscler Thromb Vasc Biol 32 (2012), 805–809.
35. 35 Dewey, F.E., Gusarova, V., O'Dushlaine, C., et al. Genetic and pharmacological inactivation of ANGPTL3 is associated with reduced atherosclerotic cardiovascular disease (abstr.). Circulation, 134, 2016, A16563.
36. 36 Dewey, F.E., Gusarova, V., O'Dushlaine, C., et al. Inactivating variants in ANGPTL4 and risk of coronary artery disease. N Engl J Med 374 (2016), 1123–1133.
37. 37 Jorgensen, A.B., Frikke-Schmidt, R., Nordestgaard, B.G., Tybjaerg-Hansen, A., Loss-of-function mutations in APOC3 and risk of ischemic vascular disease. N Engl J Med 371 (2014), 32–41.
38. 38 Lim, E.T., Wurtz, P., Havulinna, A.S., et al. Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet, 10, 2014, e1004494.
39. 39 Cohen, J.C., Boerwinkle, E., Mosley, T.H. Jr., Hobbs, H.H., Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 354 (2006), 1264–1272.
40. 40 Stitziel, N.O., Kathiresan, S., Leveraging human genetics to guide drug target discovery. Trends Cardiovasc Med, 2016 Aug 26 [E-pub ahead of print].
41. 41 Minicocci, I., Tikka, A., Poggiogalle, E., et al. Effects of angiopoietin-like protein 3 deficiency on postprandial lipid and lipoprotein metabolism. J Lipid Res 57 (2016), 1097–1107.
42. 42 Robciuc, M.R., Maranghi, M., Lahikainen, A., et al. Angptl3 deficiency is associated with increased insulin sensitivity, lipoprotein lipase activity, and decreased serum free fatty acids. [published correction appears in Arterioscler Thromb Vasc Biol 2013;33:e124] Arterioscler Thromb Vasc Biol 33 (2013), 1706–1713.
43. 43 Zuk, O., Schaffner, S.F., Samocha, K., et al. Searching for missing heritability: designing rare variant association studies. Proc Natl Acad Sci U S A 111 (2014), E455–E464.