The value of HDL genetics

Current Opinion in Lipidology

Volumn 19, Issue 4, 2008, Pages 385-394

  Holleboom, Adriaan G ^a   Vergeer, Menno ^a   Hovingh, G Kees ^a   Kastelein, John J P ^a   Kuivenhoven, Jan Albert ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Genetics; Genome wide analysis; High density lipoprotein cholesterol

Indexed keywords

HIGH DENSITY LIPOPROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL;

ABCA1 GENE; ABCG1 GENE; APOA1 GENE; APOM GENE; ATHEROSCLEROSIS; ATPB5 GENE; BMP 1 GENE; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CATABOLISM; CETP GENE; CORONARY ARTERY ATHEROSCLEROSIS; CTALPHA GENE; GALNT2 GENE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC DISORDER; HUMAN; LCAT GENE; LIPC GENE; LIPG GENE; LIPOPROTEIN METABOLISM; LIPOPROTEIN SYNTHESIS; METABOLIC DISORDER; MMABIMVK GENE; NONHUMAN; PLTP GENE; PRIORITY JOURNAL; REVIEW; SCARB1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SIRT1 GENE; VNN1 GENE; ANIMAL; GENETICS; METABOLISM; RISK;

ANIMALS; CARDIOVASCULAR DISEASES; HUMANS; LIPOPROTEINS, HDL; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK;

EID: 53149113099     PISSN: 09579672     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOL.0b013e328306a043     Document Type: Review

References (119)

1. Rader DJ. Molecular regulation of HDL metabolism and function: implications for novel therapies. J Clin Invest 2006; 116:3090-3100.
2. Gordon DJ, Probstfield JL, Garrison RJ, et al. High-density lipoprotein cholesterol and cardiovascular disease. Four prospective American studies. Circulation 1989; 79:8-15.
3. Joy T, Hegele RA. Is raising HDL a futile strategy for atheroprotection? Nat Rev Drug Discov 2008; 7:143-155. Excellent review on HDL as a pharmacological target.
4. Singh IM, Shishehbor MH, Ansell BJ. High-density lipoprotein as a therapeutic target: a systematic review. JAMA 2007; 298:786-798. Excellent systematic review outlining the clinical evidence for raising HDL as an antiatherosclerotic therapy.
5. National Institutes of Health. Treatment of HDL to reduce the incidence of vascular events HPS2-THRIVE. http://clinicaltrials.gov/ct2/show/NCT00461630? term=HPS2-THRIVE&rank=1. National Institutes of Health; 2008. [Accessed 3 December 2007].
6. National Heart, Lung, and Blood Institute. Niacin plus statin to prevent vascular events. National Heart, Lung, and Blood Institute; 2008. http://clinicaltrials.gov/ct2/show/NCT00120289?term=niacin+statin+vascular& rank=2.
7. Nissen SE, Tsunoda T, Tuzcu EM, et al. Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial. JAMA 2003; 290:2292-2300.
8. Tardif JC, Gregoire J, L'Allier PL, et al. Effects of reconstituted high-density lipoprotein infusions on coronary atherosclerosis: a randomized controlled trial. JAMA 2007; 297:1675-1682.
9. Tall AR. CETP inhibitors to increase HDL cholesterol levels. N Engl J Med 2007; 356:1364-1366.
10. Barter PJ, Caulfield M, Eriksson M, et al. Effects of torcetrapib in patients at high risk for coronary events. N Engl J Med 2007; 357:2109-2122.
11. Carlquist J, Anderson JL. Inconsistencies in the genetic prediction of HDL cholesterol versus atherosclerosis. Curr Opin Cardiol 2007; 22:352-358.
12. Nicholls SJ, Rye KA, Barter PJ. High-density lipoproteins as therapeutic targets. Curr Opin Lipidol 2005; 16:345-349.
13. Linsel-Nitschke P, Tall AR. HDL as a target in the treatment of atherosclerotic cardiovascular disease. Nat Rev Drug Discov 2005; 4:193-205.
14. Rader DJ. Illuminating HDL: is it still a viable therapeutic target? N Engl J Med 2007; 357:2180-2183.
15. Dastani Z, Engert JC, Genest J, Marcil M. Genetics of high-density lipoproteins. Curr Opin Cardiol 2006; 21:329-335.
16. Sviridov D, Nestel PJ. Genetic factors affecting HDL levels, structure, metabolism and function. Curr Opin Lipidol 2007; 18:157-163.
17. Pollex RL, Hegele RA. Genetic determinants of plasma lipoproteins. Nat Clin Pract Cardiovasc Med 2007; 4:600-609.
18. Kathiresan S, Musunuru K, Orho-Melander M. Defining the spectrum of alleles that contribute to blood lipid concentrations in humans. Curr Opin Lipidol 2008; 19:122-127.
19. Goode EL, Cherny SS, Christian JC, et al. Heritability of longitudinal measures of body mass index and lipid and lipoprotein levels in aging twins. Twin Res Hum Genet 2007; 10:703-711.
20. Hovingh GK, Brownlie A, Bisoendial RJ, et al. A novel apoA-I mutation (L178P) leads to endothelial dysfunction, increased arterial wall thickness, and premature coronary artery disease. J Am Coll Cardiol 2004; 44:1429-1435.
21. Brown CM, Rea TJ, Hamon SC, et al. The contribution of individual and pairwise combinations of SNPs in the APOA1 and APOC3 genes to interindividual HDL-C variability. J Mol Med 2006; 84:561-572.
22. Moore RE, Kawashiri MA, Kitajima K, et al. Apolipoprotein A-I deficiency results in markedly increased atherosclerosis in mice lacking the LDL receptor. Arterioscler Thromb Vasc Biol 2003; 23:1914-1920.
23. Zhang Y, Zanotti I, Reilly MP, et al. Overexpression of apolipoprotein A-I promotes reverse transport of cholesterol from macrophages to feces in vivo. Circulation 2003; 108:661-663.
24. Rubin EM, Krauss RM, Spangler EA, et al. Inhibition of early atherogenesis in transgenic mice by human apolipoprotein AI. Nature 1991; 353:265-267.
25. Kuivenhoven JA, Pritchard H, Hill J, et al. The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. J Lipid Res 1997; 38:191-205.
26. Hovingh GK, Hutten BA, Holleboom AG, et al. Compromised LCAT function is associated with increased atherosclerosis. Circulation 2005; 112:879-884.
27. Pare G, Serre D, Brisson, et al. Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol. Am J Hum Genet 2007; 80:673-682.
28. Sakai N, Vaisman BL, Koch CA, et al. Targeted disruption of the mouse lecithin:cholesterol acyltransferase (LCAT) gene. Generation of a new animal model for human LCAT deficiency. J Biol Chem 1997; 272:7506-7510.
29. Furbee JW Jr, Sawyer JK, Parks JS. Lecithin:cholesterol acyltransferase deficiency increases atherosclerosis in the low density lipoprotein receptor and apolipoprotein E knockout mice. J Biol Chem 2002; 277:3511-3519.
30. Mehlum A, Muri M, Hagve TA, et al. Mice overexpressing human lecithin: cholesterol acyltransferase are not protected against diet-induced atherosclerosis. APMIS 1997; 105:861-868.
31. Mertens A, Verhamme P, Bielicki JK, et al. Increased low-density lipoprotein oxidation and impaired high-density lipoprotein antioxidant defense are associated with increased macrophage homing and atherosclerosis in dyslipidemic obese mice: LCAT gene transfer decreases atherosclerosis. Circulation 2003; 107:1640-1646.
32. 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.
33. Clee SM, Kastelein JJ, van Dam M, et al. Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J Clin Invest 2000; 106:1263-1270.
34. Zwarts KY, Clee SM, Zwinderman AH, et al. ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels. Clin Genet 2002; 61:115-125.
35. Frikke-Schmidt R, Nordestgaard BG, Jensen GB, et al. Genetic variation in ABCA1 predicts ischemic heart disease in the general population. Arterioscler Thromb Vasc Biol 2008; 28:180-186. Association study presenting an apparent paradox: ABCA1 SNPs have diverse effects on plasma HDL cholesterol levels, but the minor alleles are almost uniformly associated with an increased risk of CAD.
36. Orso E, Broccardo C, Kaminski WE, et al. Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice. Nat Genet 2000; 24:192-196.
37. Christiansen-Weber TA, Voland JR, Wu Y, et al. Functional loss of ABCA1 in mice causes severe placental malformation, aberrant lipid distribution, and kidney glomerulonephritis as well as high-density lipoprotein cholesterol deficiency. Am J Pathol 2000; 157:1017-1029.
38. Groen AK, Bloks VW, Bandsma RH, et al. Hepatobiliary cholesterol transport is not impaired in Abca1-null mice lacking HDL. J Clin Invest 2001; 108:843-850.
39. Joyce C, Freeman L, Brewer HB Jr, Santamarina-Fojo S. Study of ABCA1 function in transgenic mice. Arterioscler Thromb Vasc Biol 2003; 23:965-971.
40. Joyce CW, Wagner EM, Basso F, et al. ABCA1 overexpression in the liver of LDLr-KO mice leads to accumulation of pro-atherogenic lipoproteins and enhanced atherosclerosis. J Biol Chem 2006; 281:33053-33065.
41. Singaraja RR, Fievet C, Castro G, et al. Increased ABCA1 activity protects against atherosclerosis. J Clin Invest 2002; 110:35-42.
42. Tall AR, Breslow JL, Rubin EM. Genetic disorders affecting plasma high-density lipoproteins. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease (OMMBID). Part 12: Lipids. vol. 2. New York: McGraw-Hill; 2001. pp. 2915-2936, chapter 121. http://www.ommbid.com/OMMBID/the-online-metabolic-and-molecular-bases-of- inherited-disease/b/abstract/part12/ch121.
43. Isaacs A, Sayed-Tabatabaei FA, Njajou OT, et al. The -514 C->T hepatic lipase promoter region polymorphism and plasma lipids: a meta-analysis. J Clin Endocrinol Metab 2004; 89:3858-3863.
44. Isaacs A, Aulchenko YS, Hofman A, et al. Epistatic effect of cholesteryl ester transfer protein and hepatic lipase on serum high-density lipoprotein cholesterol levels. J Clin Endocrinol Metab 2007; 92:2680-2687.
45. Boekholdt SM, Kuivenhoven JA, Hovingh GK, et al. CETP gene variation: relation to lipid parameters and cardiovascular risk. Curr Opin Lipidol 2004; 15:393-398.
46. Boekholdt SM, Sacks FM, Jukema JW, et al. Cholesteryl ester transfer protein TaqIB variant, high-density lipoprotein cholesterol levels, cardiovascular risk, and efficacy of pravastatin treatment: individual patient meta-analysis of 13,677 subjects. Circulation 2005; 111:278-287.
47. Acton S, Osgood D, Donoghue M, et al. Association of polymorphisms at the SR-BI gene locus with plasma lipid levels and body mass index in a white population. Arterioscler Thromb Vasc Biol 1999; 19:1734-1743.
48. Osgood D, Corella D, Demissie S, et al. Genetic variation at the scavenger receptor class B type I gene locus determines plasma lipoprotein concentrations and particle size and interacts with type 2 diabetes: the framingham study. J Clin Endocrinol Metab 2003; 88:2869-2879.
49. Rigotti A, Trigatti BL, Penman M, et al. A targeted mutation in the murine gene encoding the high density lipoprotein (HDL) receptor scavenger receptor class B type I reveals its key role in HDL metabolism. Proc Natl Acad Sci U S A 1997; 94:12610-12615.
50. Braun A, Trigatti BL, Post MJ, et al. Loss of SR-BI expression leads to the early onset of occlusive atherosclerotic coronary artery disease, spontaneous myocardial infarctions, severe cardiac dysfunction, and premature death in apolipoprotein E-deficient mice. Circ Res 2002; 90:270-276.
51. Ueda Y, Royer L, Gong E, et al. Lower plasma levels and accelerated clearance of high density lipoprotein (HDL) and non-HDL cholesterol in scavenger receptor class B type I transgenic mice. J Biol Chem 1999; 274: 7165-7171.
52. Arai T, Wang N, Bezouevski M, et al. Decreased atherosclerosis in heterozygous low density lipoprotein receptor-deficient mice expressing the scavenger receptor BI transgene. J Biol Chem 1999; 274:2366-2371.
53. Kennedy MA, Barrera GC, Nakamura K, et al. ABCG1 has a critical role in mediating cholesterol efflux to HDL and preventing cellular lipid accumulation. Cell Metab 2005; 1:121-131.
54. Yvan-Charvet L, Ranalletta M, Wang N, et al. Combined deficiency of ABCA1 and ABCG1 promotes foam cell accumulation and accelerates atherosclerosis in mice. J Clin Invest 2007; 117:3900-3908.
55. Martinez LO, Jacquet S, Esteve JP, et al. Ectopic beta-chain of ATP synthase is an apolipoprotein A-I receptor in hepatic HDL endocytosis. Nature 2003; 421:75-79.
56. Spirin V, Schmidt S, Pertsemlidis A, et al. Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol. Am J Hum Genet 2007; 81:1298-1303. Study describing an HDL SNP panel assessed in a large population by forward stepwise regression analysis.
57. Jiang XC, Bruce C, Mar J, et al. Targeted mutation of plasma phospholipid transfer protein gene markedly reduces high-density lipoprotein levels. J Clin Invest 1999; 103:907-914.
58. Albers JJ, Tu AY, Paigen B, et al. Transgenic mice expressing human phospholipid transfer protein have increased HDL/non-HDL cholesterol ratio. Int J Clin Lab Res 1996; 26:262-267.
59. Moerland M, Samyn H, Van GT, et al. Acute elevation of plasma PLTP activity strongly increases preexisting atherosclerosis. Arterioscler Thromb Vasc Biol 2008; 28:1277-1282.
60. Yamakawa-Kobayashi K, Yanagi H, Endo K, et al. Relationship between serum HDL-C levels and common genetic variants of the endothelial lipase gene in Japanese school-aged children. Hum Genet 2003; 113:311-315.
61. Ishida T, Choi S, Kundu RK, et al. Endothelial lipase is a major determinant of HDL level. J Clin Invest 2003; 111:347-355.
62. Wolfrum C, Poy MN, Stoffel M. Apolipoprotein M is required for prebeta-HDL formation and cholesterol efflux to HDL and protects against atherosclerosis. Nat Med 2005; 11:418-422.
63. Christoffersen C, Jauhiainen M, Moser M, et al. Effect of apolipoprotein M on high density lipoprotein metabolism and atherosclerosis in low density lipoprotein receptor knock-out mice. J Biol Chem 2008; 283:1839-1847.
64. Klos KL, Kullo IJ. Genetic determinants of HDL: monogenic disorders and contributions to variation. Curr Opin Cardiol 2007; 22:344-351.
65. Miller M, Rhyne J, Hamlette S, et al. Genetics of HDL regulation in humans. Curr Opin Lipidol 2003; 14:273-279.
66. Santamarina-Fojo S, Hoeg JM, Assmann, Brewer HB. Lecithin cholesterol acyltransferase deficiency and fish eye disease. In: Wonsiewicz M, Noujaim S, Boyle P, editors. Metabolic and molecular bases of inherited diseases (OMMBID). Part 12: Lipids. 8th ed. New York, NY: McGraw-Hill; 2001. pp. 2817-2833, chapter 118. http://www.ommbid.com/OMMBID/the-online-metabolic-and-molecular-bases-of- inherited-disease/b/abstract/part12/ch118.
67. Brunzell JD, Deeb SS. Familial lipoprotein lipase deficiency, apo C-II deficiency, and hepatic lipase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. Metabolic and molecular bases of inherited diseases (OMMBID). Part 12: Lipids. 8th ed. New York, NY: McGrawHill; 2001. pp. 2789-2816, chapter 117. http://www.ommbid.com/OMMBID/the-online-metabolic-and-molecular-bases-of- inherited-disease/b/abstract/part12/ch117.
68. von Eckardstein A, Holz H, Sandkamp M, et al. Apolipoprotein C-III(Lys58 -/- Glu). Identification of an apolipoprotein C-III variant in a family with hyper-alphalipoproteinemia. J Clin Invest 1991; 87:1724-1731.
69. Deeb SS, Takata K, Peng RL, et al. A splice-junction mutation responsible for familial apolipoprotein A-II deficiency. Am J Hum Genet 1990; 46:822-827.
70. Acton S, Rigotti A, Landschulz KT, et al. Identification of scavenger receptor SR-BI as a high density lipoprotein receptor. Science 1996; 271:518-520.
71. Cavelier C, Lorenzi I, Rohrer L, von Eckardstein A. Lipid efflux by the ATP-binding cassette transporters ABCA1 and ABCG1. Biochim Biophys Acta 2006; 1761:655-666.
72. Tall AR. Cholesterol efflux pathways and other potential mechanisms involved in the athero-protective effect of high density lipoproteins. J Intern Med 2008; 263:256-273. State-of-the-art overview of atheroprotection by HDL, with special attention for cholesterol efflux pathways.
73. Wang N, Lan D, Chen W, et al. ATP-binding cassette transporters G1 and G4 mediate cellular cholesterol efflux to high-density lipoproteins. Proc Natl Acad Sci U S A 2004; 101:9774-9779.
74. Jaye M, Lynch KJ, Krawiec J, et al. A novel endothelial-derived lipase that modulates HDL metabolism. Nat Genet 1999; 21:424-428.
75. Christoffersen C, Nielsen LB, Axler O, et al. Isolation and characterization of human apolipoprotein M-containing lipoproteins. J Lipid Res 2006; 47:1833-1843.
76. Kiss RS, Kavaslar N, Okuhira K, et al. Genetic etiology of isolated low HDL syndrome: incidence and heterogeneity of efflux defects. Arterioscler Thromb Vasc Biol 2007; 27:1139-1145.
77. Cohen JC, Kiss RS, Pertsemlidis A, et al. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 2004; 305:869-872.
78. Hattersley AT, McCarthy MI. What makes a good genetic association study? Lancet 2005; 366:1315-1323.
79. Cordell HJ, Clayton DG. Genetic association studies. Lancet 2005; 366:1121-1131.
80. Hopper JL, Bishop DT, Easton DF. Population-based family studies in genetic epidemiology. Lancet 2005; 366:1397-1406.
81. Beaven SW, Tontonoz P. Nuclear receptors in lipid metabolism: targeting the heart of dyslipidemia. Annu Rev Med 2006; 57:313-329.
82. Tan JH, Low PS, Tan YS, et al. ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore. Hum Genet 2003; 113:106-117.
83. Van EM, Bos IS, Kaminski WE, et al. Leukocyte ABCA1 controls susceptibility to atherosclerosis and macrophage recruitment into tissues. Proc Natl Acad Sci U S A 2002; 99:6298-6303.
84. Haghpassand M, Bourassa PA, Francone OL, Aiello RJ. Monocyte/macrophage expression of ABCA1 has minimal contribution to plasma HDL levels. J Clin Invest 2001; 108:1315-1320.
85. Hamon Y, Broccardo C, Chambenoit O, et al. ABC1 promotes engulfment of apoptotic cells and transbilayer redistribution of phosphatidylserine. Nat Cell Biol 2000; 2:399-406.
86. Schmitz G, Buechler C. ABCA1: regulation, trafficking and association with heteromeric proteins. Ann Med 2002; 34:334-347.
87. Mackness M, Mackness B. Paraoxonase 1 and atherosclerosis: is the gene or the protein more important? Free Radic Biol Med 2004; 37:1317-1323.
88. Bhattacharya M, Wang J, Ribeiro FM, et al. Analysis of a missense variant of the human N-formyl peptide receptor that is associated with agonist-independent beta-arrestin association and indices of inflammation. Pharmacogenom J 2007; 7:190-199.
89. Yoshida K, Shimizugawa T, Ono M, Furukawa H. Angiopoietin-like protein 4 is a potent hyperlipidemia-inducing factor in mice and inhibitor of lipoprotein lipase. J Lipid Res 2002; 43:1770-1772.
90. Romeo S, Pennacchio LA, Fu Y, et al. Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet 2007; 39:513-516. Large resequencing study pointing to ANGPTL4 as a new HDL locus.
91. Love-Gregory L, Sherva R, Sun L, et al. Variants in the CD36 gene associated with the metabolic syndrome and high density lipoprotein cholesterol. Hum Mol Genet 2008; 17:1695-1704.
92. Hamada T, Kotani K, Fujiwara S, et al. The common -55 C/T polymorphism in the promoter region of the uncoupling protein 3 gene reduces prevalence of obesity and elevates serum high-density lipoprotein cholesterol levels in the general Japanese population. Metabolism 2008; 57:410-415.
93. Kotani K, Sakane N, Saiga K, et al. Relationship between A-3826G polymorphism in the promoter of the uncoupling protein-1 gene and high-density lipoprotein cholesterol in Japanese individuals: a cross-sectional study. Arch Med Res 2008; 39:142-146.
94. Cha MH, Kim IC, Kim KS, et al. Association of UCP2 and UCP3 gene polymorphisms with serum high-density lipoprotein cholesterol among Korean women. Metabolism 2007; 56:806-813.
95. Boekholdt SM, Souverein OW, Tanck MW, et al. Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels. Clin Genet 2006; 69:263-270.
96. Kathiresan S, Melander O, Anevski D, et al. Polymorphisms associated with cholesterol and risk of cardiovascular events. N Engl J Med 2008; 358: 1240-1249.
97. Göring HH, Curran JE, Johnson MP, et al. Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes. Nat Genet 2007; 39:1208-1216. Very informative study, in which the development and application of a whole genome transcription map shows its value by identifying a new HDL locus, VNN1.
98. Kathiresan S, Melander O, Guiducci C, et al. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet 2008; 40:189-197.
99. Willer CJ, Sanna S, Jackson AU, et al. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet 2008; 40:161-169. First genome-wide association study to show decisively that known lipid (and CAD risk) modifying genes can be picked up using this approach.
100. Jacobs RL, Lingrell S, Zhao Y, et al. Hepatic CTP:phosphocholine cytidylyltransferase-alpha is a critical predictor of plasma HDL and VLDL. J Biol Chem 2008; 283:2147-2155. CTa is demonstrated to play a crucial role in lipoprotein metabolism as a key enzyme in phospholipid synthesis.
101. Chau P, Fielding PE, Fielding CJ. Bone morphogenetic protein-1 (BMP-1) cleaves human proapolipoprotein A1 and regulates its activation for lipid binding. Biochemistry 2007; 46:8445-8450. BMP-1 is demonstrated to convert pro-ApoAI into the actual apolipoprotein. Interestingly, BMP-1 is inhibited in the inflammatory state, which might explain the low HDLc levels seen in the acute phase.
102. Li X, Zhang S, Blander G, et al. SIRT1 deacetylates and positively regulates the nuclear receptor LXR. Mol Cell 2007; 28:91-106. SIRT1 is demonstrated to regulate LXR activation and subsequent ABCA1 expression and function. SIRT1 knockout mice display low HDLc plasma levels.
103. Kooner JS, Chambers JC, Aquilar-Salinas CA, et al. Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides. Nat Genet 2008; 40:149-151.
104. Sandhu MS, Waterworth DM, Debenham SL, et al. LDL-cholesterol concentrations: a genome-wide association study. Lancet 2008; 371:483-491.
105. Thomas DC. Are we ready for genome-wide association studies? Cancer Epidemiol Biomarkers Prev 2006; 15:595-598.
106. Goldstein JL, Brown MS, Anderson RG, et al. Receptor-mediated endocytosis: concepts emerging from the LDL receptor system. Annu Rev Cell Biol 1985; 1:1-39.
107. Schindler PA, Settineri CA, Collet X, et al. Site-specific detection and structural characterization of the glycosylation of human plasma proteins lecithin:cholesterol acyltransferase and apolipoprotein D using HPLC/electrospray mass spectrometry and sequential glycosidase digestion. Protein Sci 1995; 4:791-803.
108. Vaith P, Assmann G, Uhlenbruck G. Characterization of the oligosaccharide side chain of apolipoprotein C-III from human plasma very low density lipoproteins. Biochim Biophys Acta 1978; 541:234-240.
109. Magrane J, Casaroli-Marano RP, Reina M, et al. The role of O-linked sugars in determining the very low density lipoprotein receptor stability or release from the cell. FEBS Lett 1999; 451:56-62.
110. Murphy C, Murray AM, Meaney S, Gafvels M. Regulation by SREBP-2 defines a potential link between isoprenoid and adenosylcobalamin metabolism. Biochem Biophys Res Commun 2007; 355:359-364.
111. Haas D, Hoffmann GF. Mevalonatekinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis 2006; 1:13.
112. Klasen IS, Goertz JH, van de Wiel GA, et al. Hyper-immunoglobulin A in the hyperimmunoglobulinemia D syndrome. Clin Diagn Lab Immunol 2001; 8:58-61.
113. Simon A, Bijzet J, Voorbij HA, et al. Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response. J Intern Med 2004; 256:247-253.
114. Dobson CM, Wai T, Leclerc D, et al. Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Mol Genet 2002; 11:3361-3369.
115. Leal NA, Park SD, Kima PE, Bobik TA. Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant. J Biol Chem 2003; 278:9227-9234.
116. Sniderman LC, Lambert M, Giguere R, et al. Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. J Pediatr 1999; 134:675-680.
117. Ozcan O, Ipcioglu OM, Gultepe M, Basogglu C. Altered red cell membrane compositions related to functional vitamin B(12) deficiency manifested by elevated urine methylmalonic acid concentrations in patients with schizophrenia. Ann Clin Biochem 2008; 45:44-49.
118. Yamamoto H, Schoonjans K, Auwerx J. Sirtuin functions in health and disease. Mol Endocrinol 2007; 21:1745-1755.
119. Ishida T, Choi SY, Kundu RK, et al. Endothelial lipase modulates susceptibility to atherosclerosis in apolipoprotein-E-deficient mice. J Biol Chem 2004; 279:45085-45092.