Integrated approaches to functionally characterize novel factors in lipoprotein metabolism

Current Opinion in Lipidology

Volumn 23, Issue 2, 2012, Pages 104-110

  Runz, Heiko ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

cardiovascular disease; cholesterol; functional genomics; genome wide association studies; integrated analyses

Indexed keywords

FUNCTIONAL GENOMICS; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC EPISTASIS; GENOTYPE; HUMAN; LIPOPROTEIN METABOLISM; PRIORITY JOURNAL; REVIEW;

CARDIOVASCULAR DISEASES; COMPUTATIONAL BIOLOGY; GENE REGULATORY NETWORKS; GENE-ENVIRONMENT INTERACTION; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; HUMANS; LIPID METABOLISM; LIPOPROTEINS;

EID: 84858794812     PISSN: 09579672     EISSN: 14736535     Source Type: Journal    
DOI: 10.1097/MOL.0b013e328350fc3d     Document Type: Review

References (40)

1. Hegele RA. Plasma lipoproteins: genetic influences and clinical implications. Nat Rev Genet 2009; 10:109-121.
2. Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science 1986; 232:34-47. (Pubitemid 16037973)
3. Lusis AJ. Genetic factors affecting blood lipoproteins: the candidate gene approach. J Lipid Res 1988; 29:397-429.
4. Musunuru K, Kathiresan S. Genetics of coronary artery disease. Annu Rev Genomics Hum Genet 2010; 11:91-108.
5. Teslovich TM, Musunuru K, Smith AV, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010; 466:707-713.
6. Talmud PJ, Yiannakouris N, Humphries SE. Lipoprotein association studies: taking stock and moving forward. Curr Opin Lipidol 2011; 22:106-112.
7. Jeemon P, Pettigrew K, Sainsbury C, et al. Implications of discoveries from genome-wide association studies in current cardiovascular practice. World J Cardiol 2011; 3:230-247.
8. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009; 461:747-753.
9. Kathiresan S, Willer CJ, Peloso GM, et al. Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet 2009; 41:56-65.
10. Schunkert H, Kö nig IR, Kathiresan S, et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet 2011; 43:333-338.
11. IBC 50K CAD Consortium. Large-scale gene-centric analysis identifies novel variants for coronary artery disease. PLoS Genet 2011; 7:e1002260.
12. Shyong Tai E. Ordovas JM Genome-wide association studies for blood lipids. A great start but a long way to go. Curr Opin Lipidol 2010; 21:101-103.
13. Johansen CT, Kathiresan S, Hegele RA. Genetic determinants of plasma triglycerides. J Lipid Res 2011; 52:189-206.
14. Patel RS, Ye S. Genetic determinants of coronary heart disease: new discoveries and insights from genome-wide association studies. Heart 2011; 97:1463-1473.
15. Pirruccello J, Kathiresan S. Genetics of lipid disorders. Curr Opin Cardiol 2010; 25:238-242.
16. Edmondson AC, Brown RJ, Kathiresan S, et al. Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans. J Clin Invest 2009; 119:1042-1050.
17. Musunuru K, Strong A, Frank-Kamenetsky M, et al. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature 2010; 466:714-719.
18. Keating BJ, Tischfield S, Murray SS, et al. Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One 2008; 3:e3583.
19. 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.
20. Lander ES. Initial impact of the sequencing of the human genome. Nature 2011; 470:187-197.
21. Bauer RC, Stylianou IM, Rader DJ. Functional validation of new pathways in lipoprotein metabolism identified by human genetics. Curr Opin Lipidol 2011; 22:123-128.
22. Kjolby M, Andersen OM, Breiderhoff T, et al. Sort1, encoded by the cardiovascular risk locus 1p13.3, is a regulator of hepatic lipoprotein export. Cell Metab 2010; 12:213-223.
23. Guan Y, Ackert-Bicknell CL, Kell B, et al. Functional genomics complements quantitative genetics in identifying disease-gene associations. PLoS Comput Biol 2010; 6:e1000991.
24. Berge KE, Tian H, Graf GA, et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science 2000; 290:1771-1775. (Pubitemid 32004809)
25. Surakka I, Isaacs A, Karssen LC, et al. A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol. PLoS Genet 2011; 7:e1002333.
26. Turner SD, Berg RL, Linneman JG, et al. Knowledge-driven multilocus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks. PLoS One 2011; 6: e19586.
27. Laurila PP, Naukkarinen J, Kristiansson K, et al. Genetic association and interaction analysis of USF1 and APOA5 on lipid levels and atherosclerosis. Arterioscler Thromb Vasc Biol 2010; 30:346-352.
28. Roberts R, Stewart AF. 9p21 and the genetic revolution for coronary artery disease. Clin Chem. [Epub ahead of print]
29. Cookson W, Liang L, Abecasis G, et al. Mapping complex disease traits with global gene expression. Nat Rev Genet 2009; 10:184-194.
30. McPherson R, Pertsemlidis A, Kavaslar N, et al. A common allele on chromosome 9 associated with coronary heart disease. Science 2007; 316:1488-1491. (Pubitemid 46906617)
31. Visel A, Zhu Y, May D, et al. Targeted deletion of the 9p21 noncoding coronary artery disease risk interval in mice. Nature 2010; 464:409-412.
32. Yap KL, Li S, Muñ oz-Cabello AM, et al. Molecular interplay of the noncoding RNA ANRIL and methylated histone H3 lysine 27 by polycomb CBX7 in transcriptional silencing of INK4a. Mol Cell 2010; 38:662-674.
33. Harismendy O, Notani D, Song X, et al. 9p21 DNA variants associated with coronary artery disease impair interferon-g signalling response. Nature 2011; 470:264-268.
34. Haas BE, Weissglas-Volkov D, Aguilar-Salinas CA, et al. Evidence of how rs7575840 influences apolipoprotein B-containing lipid particles. Arterioscler Thromb Vasc Biol 2011; 31:1201-1207.
35. Coronary Artery Disease (C4D) Genetics Consortium. A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. Nat Genet 2011; 43:339-344.
36. Kooner JS, Chambers JC, Aguilar-Salinas CA, et al. Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides. Nat Genet 2008; 40:149-151. (Pubitemid 351171393)
37. Min JL, Taylor JM, Richards JB, et al. The use of genome-wide eQTL associations in lymphoblastoid cell lines to identify novel genetic pathways involved in complex traits. PLoS One 2011; 6:e22070.
38. Schadt EE, Molony C, Chudin E, et al. Mapping the genetic architecture of gene expression in human liver. PLoS Biol 2008; 6:e107.
39. Goldstein JL, Rawson RB, Brown MS. Mutant mammalian cells as tools to delineate the sterol regulatory element-binding protein pathway for feedback regulation of lipid synthesis. Arch Biochem Biophys 2002; 397: 139-148. (Pubitemid 34852273)
40. Bartz F, Kern L, Erz D, et al. Identification of cholesterol-regulating genes by targeted RNAi screening. Cell Metab 2009; 10:63-75.