Genetic and environmental risk factors for atherosclerosis regulate transcription of phosphatase and actin regulating gene PHACTR1

Atherosclerosis

Volumn 250, Issue , 2016, Pages 95-105

  Reschen, Michael E ^a   Lin, Da ^a   Chalisey, Anil ^a   Soilleux, Elizabeth J ^b   O'Callaghan, Christopher A ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Atherosclerosis; Expression quantitative trait locus (eQTL); Functional genomics; Genetic disease; Genetic polymorphism; Genomics; Low density lipoprotein (LDL); Myocardial infarction; Oxidized low density lipoprotein (oxLDL); PHACTR1

Indexed keywords

ACTIN; LIPOPOLYSACCHARIDE; OXIDIZED LOW DENSITY LIPOPROTEIN; PHOSPHATASE; PHOSPHATASE AND ACTIN REGULATING PROTEIN 1; PHOSPHOLIPID; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG; ACTIN BINDING PROTEIN; PHACTR-1 PROTEIN, HUMAN; TUMOR NECROSIS FACTOR;

ALLELE; ARTICLE; ATHEROSCLEROSIS; ATHEROSCLEROTIC PLAQUE; CONTROLLED STUDY; ENDOTHELIUM CELL; ENVIRONMENTAL FACTOR; FOAM CELL; GENETIC ANALYSIS; GENETIC REGULATION; GENETIC RISK; GENOTYPE; HEREDITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOCOMPETENT CELL; IMMUNOHISTOCHEMISTRY; MACROPHAGE; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; QUANTITATIVE TRAIT LOCUS; REAL TIME POLYMERASE CHAIN REACTION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION REGULATION; UPREGULATION; VASCULAR SMOOTH MUSCLE CELL; ADULT; AGED; CORONARY ARTERY DISEASE; CORONARY BLOOD VESSEL; CYTOLOGY; GENE EXPRESSION REGULATION; GENETICS; GENOTYPE ENVIRONMENT INTERACTION; INFLAMMATION; METABOLISM; MIDDLE AGED; PATHOLOGY; VASCULAR SMOOTH MUSCLE; YOUNG ADULT;

ADULT; AGED; ALLELES; ATHEROSCLEROSIS; CORONARY ARTERY DISEASE; CORONARY VESSELS; ENDOTHELIAL CELLS; GENE EXPRESSION REGULATION; GENE-ENVIRONMENT INTERACTION; GENOTYPE; HUMANS; INFLAMMATION; LIPOPOLYSACCHARIDES; MACROPHAGES; MICROFILAMENT PROTEINS; MIDDLE AGED; MUSCLE, SMOOTH, VASCULAR; POLYMORPHISM, SINGLE NUCLEOTIDE; TUMOR NECROSIS FACTOR-ALPHA; YOUNG ADULT;

EID: 84966930058     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2016.04.025     Document Type: Article

References (44)

1. Glass C.K., Witztum J.L. Atherosclerosis. the road ahead. Cell 2001, 104:503-516.
2. Hansson G.K., Libby P. The immune response in atherosclerosis: a double-edged sword. Nat. Rev. Immunol. 2006, 6:508-519.
3. Sayols-Baixeras S., Lluis-Ganella C., Lucas G., Elosua R. Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants. Appl. Clin. Genet. 2014, 7:15-32.
4. Consortium C.A.D., Deloukas P., Kanoni S., et al. Large-scale association analysis identifies new risk loci for coronary artery disease. Nat. Genet. 2013, 45:25-33.
5. Nikpay M., Goel A., Won H.H., et al. A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Nat. Genet. 2015, 47:1121-1130.
6. 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.
7. Harismendy O., Notani D., Song X., et al. 9p21 DNA variants associated with coronary artery disease impair interferon-gamma signalling response. Nature 2011, 470:264-268.
8. Miller C.L., Haas U., Diaz R., et al. Coronary heart disease-associated variation in TCF21 disrupts a miR-224 binding site and miRNA-mediated regulation. PLoS Genet. 2014, 10:e1004263.
9. Lu X., Wang L., Chen S., et al. Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. Nat. Genet. 2012, 44:890-894.
10. Hager J., Kamatani Y., Cazier J.B., et al. Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis. PLoS One 2012, 7:e38663.
11. O'Donnell C.J., Kavousi M., Smith A.V., et al. Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. Circulation 2011, 124:2855-2864.
12. Kathiresan S., Voight B.F., et al. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat. Genet. 2009, 41:334-341. Myocardial Infarction Genetics C.
13. Patel R.S., Morris A.A., Ahmed Y., et al. A genetic risk variant for myocardial infarction on chromosome 6p24 is associated with impaired central hemodynamic indexes. Am. J. Hypertens. 2012, 25:797-803.
14. Debette S., Kamatani Y., Metso T.M., et al. Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection. Nat. Genet. 2015, 47:78-83.
15. Beaudoin M., Gupta R.M., Won H.H., et al. Myocardial infarction-associated SNP at 6p24 interferes with MEF2 binding and associates with PHACTR1 expression levels in human coronary arteries. Arterioscler. Thromb. Vasc. Biol. 2015, 35:1472-1479.
16. Mele M., Ferreira P.G., Reverter F., et al. Human genomics. The human transcriptome across tissues and individuals. Science 2015, 348:660-665.
17. Reschen M.E., Gaulton K.J., Lin D., et al. Lipid-induced epigenomic changes in human macrophages identify a coronary artery disease-associated variant that regulates PPAP2B Expression through Altered C/EBP-beta binding. PLoS Genet. 2015, 11:e1005061.
18. Allen P.B., Greenfield A.T., Svenningsson P., Haspeslagh D.C., Greengard P. Phactrs 1-4: a family of protein phosphatase 1 and actin regulatory proteins. Proc. Natl. Acad. Sci. U. S. A. 2004, 101:7187-7192.
19. Ota T., Suzuki Y., Nishikawa T., et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. 2004, 36:40-45.
20. Wiezlak M., Diring J., Abella J., et al. G-actin regulates the shuttling and PP1 binding of the RPEL protein Phactr1 to control actomyosin assembly. J. cell Sci. 2012, 125:5860-5872.
21. Moorhead G.B., Trinkle-Mulcahy L., Ulke-Lemee A. Emerging roles of nuclear protein phosphatases. Nat. Rev. Mol. cell Biol. 2007, 8:234-244.
22. Korrodi-Gregorio L., Esteves S.L., Fardilha M. Protein phosphatase 1 catalytic isoforms: specificity toward interacting proteins. Transl. Res. J. laboratory Clin. Med. 2014, 164:366-391.
23. Allain B., Jarray R., Borriello L., et al. Neuropilin-1 regulates a new VEGF-induced gene, Phactr-1, which controls tubulogenesis and modulates lamellipodial dynamics in human endothelial cells. Cell Signal 2012, 24:214-223.
24. Favot L., Gillingwater M., Scott C., Kemp P.R. Overexpression of a family of RPEL proteins modifies cell shape. FEBS Lett. 2005, 579:100-104.
25. Moore K.J., Sheedy F.J., Fisher E.A. Macrophages in atherosclerosis: a dynamic balance. Nat. Rev. Immunol. 2013, 13:709-721.
26. Moore K.J., Tabas I. Macrophages in the pathogenesis of atherosclerosis. Cell 2011, 145:341-355.
27. Hansson G.K., Hermansson A. The immune system in atherosclerosis. Nat. Immunol. 2011, 12:204-212.
28. Havel R.J., Eder H.A., Bragdon J.H. The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J. Clin. Invest. 1955, 34:1345-1353.
29. Consortium F., the RP, Clst, et al. A promoter-level mammalian expression atlas. Nature 2014, 507:462-470.
30. Rosenbloom K.R., Sloan C.A., Malladi V.S., et al. ENCODE data in the UCSC Genome Browser: year 5 update. Nucleic Acids Res. 2013, 41:D56-D63.
31. Watson A.D., Berliner J.A., Hama S.Y., et al. Protective effect of high density lipoprotein associated paraoxonase. Inhibition of the biological activity of minimally oxidized low density lipoprotein. J. Clin. Invest. 1995, 96:2882-2891.
32. Vengrenyuk Y., Nishi H., Long X., et al. Cholesterol loading reprograms the microRNA-143/145-myocardin axis to convert aortic smooth muscle cells to a dysfunctional macrophage-like phenotype. Arterioscler. Thromb. Vasc. Biol. 2015, 35:535-546.
33. Devries-Seimon T., Li Y., Yao P.M., et al. Cholesterol-induced macrophage apoptosis requires ER stress pathways and engagement of the type A scavenger receptor. J. Cell Biol. 2005, 171:61-73.
34. A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. Nat. Genet. 2011, 43:339-344. Coronary Artery Disease Genetics C.
35. Schober A., Siess W. Lysophosphatidic acid in atherosclerotic diseases. Br. J. Pharmacol. 2012, 167:465-482.
36. Jarray R., Pavoni S., Borriello L., et al. Disruption of phactr-1 pathway triggers pro-inflammatory and pro-atherogenic factors: new insights in atherosclerosis development. Biochimie 2015, 118:151-161.
37. Zeller T., Wild P., Szymczak S., et al. Genetics and beyond-the transcriptome of human monocytes and disease susceptibility. PLoS One 2010, 5:e10693.
38. Zhang X., Johnson A.D., Hendricks A.E., et al. Genetic associations with expression for genes implicated in GWAS studies for atherosclerotic cardiovascular disease and blood phenotypes. Hum. Mol. Genet. 2014, 23:782-795.
39. Erbilgin A., Civelek M., Romanoski C.E., et al. Identification of CAD candidate genes in GWAS loci and their expression in vascular cells. J. Lipid Res. 2013, 54:1894-1905.
40. Fu J., Wolfs M.G., Deelen P., et al. Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression. PLoS Genet. 2012, 8:e1002431.
41. Davison L.J., Wallace C., Cooper J.D., et al. Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene. Hum. Mol. Genet. 2012, 21:322-333.
42. Ward L.D., Kellis M. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res. 2012, 40:D930-D934.
43. Boyle A.P., Hong E.L., Hariharan M., et al. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 2012, 22:1790-1797.
44. Aude-Garcia C., Collin-Faure V., Bausinger H., Hanau D., Rabilloud T., Lemercier C. Dual roles for MEF2A and MEF2D during human macrophage terminal differentiation and c-Jun expression. Biochem. J. 2010, 430:237-244.