Functional analysis of the chromosome 9p21.3 coronary artery disease risk locus

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 29, Issue 10, 2009, Pages 1671-1677

  Jarinova, Olga ^a   Stewart, Alexandre F R ^a   Roberts, Robert ^a   Wells, George ^a   Lau, Paulina ^a   Naing, Thet ^a   Buerki, Christine ^b   McLean, Bradley W ^b   Cook, Richard C ^b,c   Parker, Joel S ^d   McPherson, Ruth ^a  

^a UNIVERSITY OF OTTAWA HEART INSTITUTE   (Canada)

^b Med BioGene Inc   (Canada)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d Expression Analysis   (United States)

Author keywords

9p21.3; ANRIL; Atherosclerosis; Cellular proliferation; Coronary artery disease; Noncoding RNA

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2B; GROWTH FACTOR; TERATOCARCINOMA DERIVED GROWTH FACTOR 1; UNCLASSIFIED DRUG; UNTRANSLATED RNA; CDKN2B PROTEIN, HUMAN; EPIDERMAL GROWTH FACTOR; LUCIFERASE; MEMBRANE PROTEIN; TDGF1 PROTEIN, HUMAN; TUMOR PROTEIN;

AGED; ALLELE; ANIMAL CELL; ARTICLE; ATHEROSCLEROSIS; CARDIOVASCULAR RISK; CELL PROLIFERATION; CHROMOSOME 9P; CHROMOSOME ANALYSIS; CONTROLLED STUDY; CORONARY ARTERY DISEASE; ENHANCER REGION; FEMALE; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REPORTER GENE; SMOOTH MUSCLE FIBER; UPREGULATION; CHROMOSOME 9; CHROMOSOME MAP; GENE EXPRESSION REGULATION; GENETICS; PHYSIOLOGY; REGULATORY SEQUENCE; RISK;

AGED; ALLELES; ATHEROSCLEROSIS; CELL PROLIFERATION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; CORONARY ARTERY DISEASE; CYCLIN-DEPENDENT KINASE INHIBITOR P15; EPIDERMAL GROWTH FACTOR; FEMALE; GENE EXPRESSION REGULATION; HUMANS; LUCIFERASES; MALE; MEMBRANE GLYCOPROTEINS; NEOPLASM PROTEINS; REGULATORY ELEMENTS, TRANSCRIPTIONAL; RISK; RNA, UNTRANSLATED;

EID: 70349569056     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/ATVBAHA.109.189522     Document Type: Article

References (22)

1. McPherson R, Pertsemlidis A, Kavaslar N, Stewart A, Roberts R, Cox DR, Hinds DA, Pennacchio LA, Tybjaerg-Hansen A, Folsom AR, Boerwinkle E, Hobbs HH, Cohen JC. A common allele on chromosome 9 associated with coronary heart disease. Science. 2007;316: 1675-1684.
2. Schunkert H, Gotz A, Braund P, McGinnis R, Tregouet DA, Mangino M, Linsel-Nitschke P, Cambien F, Hengstenberg C, Stark K, Blankenberg S, Tiret L, Ducimetiere P, Keniry A, Ghori MJ, Schreiber S, El Mokhtari NE, Hall AS, Dixon RJ, Goodall AH, Liptau H, Pollard H, Schwarz DF, Hothorn LA, Wichmann HE, Konig IR, Fischer M, Meisinger C, Ouwehand W, Deloukas P, Thompson JR, Erdmann J, Ziegler A, Samani NJ. Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. Circulation. 2008; 117:1675-1684.
3. Pasmant E, Laurendeau I, Heron D, Vidaud M, Vidaud D, Bieche I. Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF. Cancer Res. 2007;67:3963-3969.
4. Amaral PP, Dinger ME, Mercer TR, Mattick JS. The eukaryotic genome as an RNA machine. Science. 2008;319:1787-1789.
5. Yu W, Gius D, Onyango P, Muldoon-Jacobs K, Karp J, Feinberg AP, Cui H. Epigenetic silencing of tumour suppressor gene p15 by its antisense RNA. Nature. 2008;451:202-206.
6. Broadbent HM, Peden JF, Lorkowski S, Goel A, Ongen H, Green F, Clarke R, Collins R, Franzosi MG, Tognoni G, Seedorf U, Rust S, Eriksson P, Hamsten A, Farrall M, Watkins H. Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p. Hum Mol Genet. 2008;17: 806-814.
7. Subramanian A, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, Gillette MA, Paulovich A, Pomeroy SL, Golub TR, Lander ES, Mesirov JP. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci U S A. 2005;102: 15545-15550.
8. Sen N, Hara MR, Kornberg MD, Cascio MB, Bae BI, Shahani N, Thomas B, Dawson TM, Dawson VL, Snyder SH, Sawa A. Nitric oxide-induced nuclear GAPDH activates p300/CBP and mediates apoptosis. Nat Cell Biol. 2008;10:866-873.
9. Wang L, Hauser ER, Shah SH, Pericak-Vance MA, Haynes C, Crosslin D, Harris M, Nelson S, Hale AB, Granger CB, Haines JL, Jones CJ, Crossman D, Seo D, Gregory SG, Kraus WE, Goldschmidt-Clermont PJ, Vance JM. Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. Am J Hum Genet. 2007;80:650-663.
10. Shani G, Fischer WH, Justice NJ, Kelber JA, Vale W, Gray PC. GRP78 and Cripto form a complex at the cell surface and collaborate to inhibit transforming growth factor beta signaling and enhance cell growth. Mol Cell Biol 2008;28666-72867.
11. Yang S, Arguello JR, Li X, Ding Y, Zhou Q, Chen Y, Zhang Y, Zhao R, Brunet F, Peng L, Long M, Wang W. Repetitive element-mediated recombination as a mechanism for new gene origination in Drosophila. PLoS Genet. 2008;4:e3.
12. Pang KC, Frith MC, Mattick JS. Rapid evolution of noncoding RNAs: lack of conservation does not mean lack of function. Trends Genet. 2006;22:1-5.
13. Storz G, Altuvia S, Wassarman KM. An abundance of RNA regulators. Annu Rev Biochem. 2005;74:199-217.
14. Ng K, Pullirsch D, Leeb M, Wutz A. Xist and the order of silencing. EMBO Rep. 2007;8:34-39.
15. Rinn JL, Kertesz M, Wang JK, Squazzo SL, Xu X, Brugmann SA, Goodnough LH, Helms JA, Farnham PJ, Segal E, Chang HY. Functional demarcation of active and silent chromatin domains in human HOX loci by noncoding RNAs. Cell. 2007;129:1311-1323.
16. Bracken AP, Kleine-Kohlbrecher D, Dietrich N, Pasini D, Gargiulo G, Beekman C, Theilgaard-Monch K, Minucci S, Porse BT, Marine JC, Hansen KH, Helin K. The Polycomb group proteins bind throughout the INK4A-ARF locus and are disassociated in senescent cells. Genes Dev. 2007;21:525-530.
17. Barna M, Merghoub T, Costoya JA, Ruggero D, Branford M, Bergia A, Samori B, Pandolfi PP. Plzf mediates transcriptional repression of HoxD gene expression through chromatin remodeling. Dev Cell. 2002;3: 499-510.
18. Gray PC, Harrison CA, Vale W. Cripto forms a complex with activin and type II activin receptors and can block activin signaling. Proc Natl Acad Sci U S A. 2003;100:5193-5198.
19. Kelber JA, Shani G, Booker EC, Vale WW, Gray PC. Cripto is a noncompetitive activin antagonist that forms analogous signaling complexes with activin and nodal. J Biol Chem. 2008;283:4490-4500.
20. Yokote K, Kobayashi K, Saito Y. The role of Smad3-dependent TGF-beta signal in vascular response to injury. Trends Cardiovasc Med. 2006;16: 240-245.
21. Boucher P, Gotthardt M, Li WP, Anderson RG, Herz J. LRP: role in vascular wall integrity and protection from atherosclerosis. Science. 2003; 300:329-332.
22. Helgadottir A, Thorleifsson G, Magnusson KP, Gretarsdottir S, Steinthorsdottir V, Manolescu A, Jones GT, Rinkel GJ, Blankensteijn JD, Ronkainen A, Jaaskelainen JE, Kyo Y, Lenk GM, Sakalihasan N, Kostulas K, Gottsater A, Flex A, Stefansson H, Hansen T, Andersen G, Weinsheimer S, Borch-Johnsen K, Jorgensen T, Shah SH, Quyyumi AA, Granger CB, Reilly MP, Austin H, Levey AI, Vaccarino V, Palsdottir E, Walters GB, Jonsdottir T, Snorradottir S, Magnusdottir D, Gudmundsson G, Ferrell RE, Sveinbjornsdottir S, Hernesniemi J, Niemela M, Limet R, Andersen K, Sigurdsson G, Benediktsson R, Verhoeven EL, Teijink JA, Grobbee DE, Rader DJ, Collier DA, Pedersen O, Pola R, Hillert J, Lindblad B, Valdimarsson EM, Magnadottir HB, Wijmenga C, Tromp G, Baas AF, Ruigrok YM, van Rij AM, Kuivaniemi H, Powell JT, Mat-thiasson SE, Gulcher JR, Thorgeirsson G, Kong A, Thorsteinsdottir U, Stefansson K. The same sequence variant on 9p21 associates with myo-cardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat Genet. 2008;40:217-224.