Erratum: Arteriosclerosis, Thrombosis, and Vascular Biology (2013) 33 (1521-1528) DOI: 10.1161/ATVBAHA.113.301505);Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels-brief report

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 33, Issue 7, 2013, Pages 1521-1528

  Motazacker, Mohammad Mahdi ^a   Peter, Jorge ^a   Treskes, Marco ^b   Shoulders, Carol C ^c   Kuivenhoven, Jan Albert ^d   Hovingh, G Kees ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b Tergooi Ziekenhuizen Hilversum ^*  (Netherlands)

^c QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^d UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

Genetic variation; High density lipoprotein cholesterol; Lipid metabolism; Low density lipoprotein cholesterol; Polygenic traits; Triglycerides

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID; LIPOPROTEIN; NUCLEOTIDE; TRIACYLGLYCEROL;

ADULT; ARTICLE; CHOLESTEROL BLOOD LEVEL; CONTROL GROUP; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; HUMAN; LIPID BLOOD LEVEL; LIPOPROTEIN METABOLISM; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POPULATION; PREVALENCE; PRIORITY JOURNAL; RNA SPLICING;

EID: 84879088930     PISSN: 10795642     EISSN: 15244636     Source Type: Journal    
DOI: 10.1161/ATV.0b013e3182a1d92c     Document Type: Erratum

References (45)

1. Di AE, Sarwar N, Perry P, Kaptoge S, Ray KK, Thompson A, Wood AM, Lewington S, Sattar N, Packard CJ, Collins R, Thompson SG, Danesh J. Major lipids, apolipoproteins, and risk of vascular disease. JAMA. 2009;302:1993-2000.
2. Mineo C, Shaul PW. Novel biological functions of high-density lipoprotein cholesterol. Circ Res. 2012;111:1079-1090.
3. Lüscher TF, von Eckardstein A, Simic B. Therapeutic targets to raise HDL in patients at risk or with coronary artery disease. Curr Vasc Pharmacol. 2012;10:720-724.
4. Barter PJ, Caulfield M, Eriksson M, et al ILLUMINATE Investigators. Effects of torcetrapib in patients at high risk for coronary events. N Engl J Med. 2007;357:2109-2122.
5. Voight BF, Peloso GM, Orho-Melander M, et al. Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet. 2012;380:572-580.
6. Ng DS, Wong NC, Hegele RA. HDL-is it too big to fail? Nat Rev Endocrinol. 2013;9:308-312.
7. Rader DJ, Tall AR. The not-so-simple HDL story: is it time to revise the HDL cholesterol hypothesis? Nat Med. 2012;18:1344-1346.
8. Inazu A, Brown ML, Hesler CB, Agellon LB, Koizumi J, Takata K, Maruhama Y, Mabuchi H, Tall AR. Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation. N Engl J Med. 1990;323:1234-1238.
9. Candini C, Schimmel AW, Peter J, Bochem AE, Holleboom AG, Vergeer M, Dullaart RP, Dallinga-Thie GM, Hovingh GK, Khoo KL, Fasano T, Bocchi L, Calandra S, Kuivenhoven JA, Motazacker MM. Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol. Atherosclerosis. 2010;213:492-498.
10. Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science. 2004;305:869-872.
11. Holleboom AG, Kuivenhoven JA, Peelman F, Schimmel AW, Peter J, Defesche JC, Kastelein JJ, Hovingh GK, Stroes ES, Motazacker MM. High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations. Hum Mutat. 2011;32:1290-1298.
12. Kiss RS, Kavaslar N, Okuhira K, Freeman MW, Walter S, Milne RW, McPherson R, Marcel YL. Genetic etiology of isolated low HDL syndrome: incidence and heterogeneity of efflux defects. Arterioscler Thromb Vasc Biol. 2007;27:1139-1145.
13. Singaraja RR, Sivapalaratnam S, Hovingh K et al. The impact of partial and complete loss of function mutations in endothelial lipase on HDL levels and functionality in humans. Circ Cardiovasc Genet. 2013;6:54-62.
14. Tietjen I, Hovingh GK, Singaraja RR, Radomski C, Barhdadi A, McEwen J, Chan E, Mattice M, Legendre A, Franchini PL, Dubé MP, Kastelein JJ, Hayden MR. Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol. PLoS One. 2012;7:e37437.
15. Asselbergs FW, Guo Y, van Iperen EP, et al; LifeLines Cohort Study. Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. Am J Hum Genet. 2012;91:823-838.
16. Teslovich TM, Musunuru K, Smith AV, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 2010;466:707-713.
17. Gibson G. Rare and common variants: twenty arguments. Nat Rev Genet. 2011;13:135-145.
18. Johansen CT, Wang J, Lanktree MB, et al. Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Nat Genet. 2010;42:684-687.
19. Johansen CT, Wang J, McIntyre AD, et al. Excess of rare variants in non-GWAS candidate genes in patients with hypertriglyceridemia. Circ Cardiovasc Genet. 2012;5:66-72.
20. Reddy MV, Iatan I, Weissglas-Volkov D, Nikkola E, Haas BE, Juvonen M, Ruel I, Ruel MJ, Sinsheimer JS, Genest J, Pajukanta P. Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family. Circ Cardiovasc Genet. 2012;5:538-546.
21. Walma EP, Visseren FL, Jukema JW, Kastelein JJ, Hoes AW, Stalenhoef AF. [The practice guideline 'Diagnosis and treatment of familial hypercholesterolaemia' of the Dutch Health Care Insurance Board]. Ned Tijdschr Geneeskd. 2006;150:18-23.
22. Tietjen I, Hovingh GK, Singaraja R, Radomski C, McEwen J, Chan E, Mattice M, Legendre A, Kastelein JJ, Hayden MR. Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT. Biochim Biophys Acta. 2012;1821:416-424.
23. Vergeer M, Korporaal SJ, Franssen R, Meurs I, Out R, Hovingh GK, Hoekstra M, Sierts JA, Dallinga-Thie GM, Motazacker MM, Holleboom AG, Van Berkel TJ, Kastelein JJ, Van Eck M, Kuivenhoven JA. Genetic variant of the scavenger receptor BI in humans. N Engl J Med. 2011;364:136-145.
24. Holleboom AG, Karlsson H, Lin RS, et al. Heterozygosity for a loss-offunction mutation in GALNT2 improves plasma triglyceride clearance in man. Cell Metab. 2011;14:811-818.
25. Exome Variant Server, NHLBI Exome Sequencing Project (ESP). http://evs.gs.washington.edu/EVS/. Accessed December 1, 2011.
26. Holleboom AG, Vergeer M, Hovingh GK, Kastelein JJ, Kuivenhoven JA. The value of HDL genetics. Curr Opin Lipidol. 2008;19:385-394.
27. Hegele RA, Little JA, Connelly PW. Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. Biochem Biophys Res Commun. 1991;179:78-84.
28. Hegele RA, Vezina C, Moorjani S, Lupien PJ, Gagne C, Brun LD, Little JA, Connelly PW. A hepatic lipase gene mutation associated with heritable lipolytic deficiency. J Clin Endocrinol Metab. 1991;72:730-732.
29. Khovidhunkit W, Chartyingcharoen P, Siriwong S, Limumpornpetch P, Plengpanich W. Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia. Am J Cardiol. 2012;110:62-66.
30. Goode EL, Cherny SS, Christian JC, Jarvik GP, de Andrade M. Heritability of longitudinal measures of body mass index and lipid and lipoprotein levels in aging twins. Twin Res Hum Genet. 2007;10:703-711.
31. Brooks-Wilson A, Marcil M, Clee SM, et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet. 1999;22:336-345.
32. Funke H, von Eckardstein A, Pritchard PH, Karas M, Albers JJ, Assmann G. A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities. J Clin Invest. 1991;87:371-376.
33. Humphries SE, Chaves ME, Tata F, Lima VL, Owen JS, Borysiewicz LK, Catapano A, Vergani C, Gjone E, Clemens MR. A study of the structure of the gene for lecithin: cholesterol acyltransferase in four unrelated individuals with familial lecithin: cholesterol acyltransferase deficiency. Clin Sci (Lond). 1988;74:91-96.
34. Plengpanich W, Siriwong S, Khovidhunkit W. Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia. Metabolism. 2009;58:1178-1184.
35. Linsel-Nitschke P, Tall AR. HDL as a target in the treatment of atherosclerotic cardiovascular disease. Nat Rev Drug Discov. 2005;4:193-205.
36. Qiu X, Mistry A, Ammirati MJ, et al. Crystal structure of cholesteryl ester transfer protein reveals a long tunnel and four bound lipid molecules. Nat Struct Mol Biol. 2007;14:106-113.
37. Durstenfeld A, Ben-Zeev O, Reue K, Stahnke G, Doolittle MH. Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations. Arterioscler Thromb. 1994;14:381-385.
38. Johansen CT, Hegele RA. The complex genetic basis of plasma triglycerides. Curr Atheroscler Rep. 2012;14:227-234.
39. Horswell SD, Ringham HE, Shoulders CC. New technologies for delineating and characterizing the lipid exome: prospects for understanding familial combined hyperlipidemia. J Lipid Res. 2009;50:S370-S375.
40. Krauss RM, Wojnooski K, Orr J, Geaney JC, Pinto CA, Liu Y, Wagner JA, Luk JM, Johnson-Levonas AO, Anderson MS, Dansky HM. Changes in lipoprotein subfraction concentration and composition in healthy individuals treated with the CETP inhibitor anacetrapib. J Lipid Res. 2012;53:540-547.
41. Dullaart RP, Perton F, Sluiter WJ, de Vries R, van Tol A. Plasma lecithin: cholesterol acyltransferase activity is elevated in metabolic syndrome and is an independent marker of increased carotid artery intima media thickness. J Clin Endocrinol Metab. 2008;93:4860-4866.
42. Yee MS, Pavitt DV, Richmond W, Cook HT, McLean AG, Valabhji J, Elkeles RS. Changes in lipoprotein profile and urinary albumin excretion in familial LCAT deficiency with lipid lowering therapy. Atherosclerosis. 2009;205:528-532.
43. Bijvoet SM, Wiebusch H, Ma Y, Reymer PW, Bruin T, Bakker HD, Funke H, Assmann G, Hayden MR, Kastelein JJ. Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250->Asn; Ser251->Cys) resulting in lipoprotein lipase (LPL) deficiency. Neth J Med. 1996;49:189-195.
44. Pérez-Méndez O, Duhal N, Lacroix B, Bonte JP, Fruchart JC, Luc G. Different VLDL apo B, and HDL apo AI and apo AII metabolism in two heterozygous carriers of unrelated mutations in the lipoprotein lipase gene. Clin Chim Acta. 2006;368:149-154.
45. Pollin TI, Damcott CM, Shen H, Ott SH, Shelton J, Horenstein RB, Post W, McLenithan JC, Bielak LF, Peyser PA, Mitchell BD, Miller M, O'Connell JR, Shuldiner AR. A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. Science. 2008;322:1702-1705.