Association and functional analyses of MEF2A as a susceptibility gene for premature myocardial infarction and coronary artery disease

Circulation: Cardiovascular Genetics

Volumn 2, Issue 2, 2009, Pages 165-172

  Guella, Ilaria ^a   Rimoldi, Valeria ^a   Asselta, Rosanna ^a   Ardissino, Diego ^b   Francolini, Maura ^a   Martinelli, Nicola ^c   Girelli, Domenico ^c   Peyvandi, Flora ^a,d   Tubaro, Marco ^e   Merlini, Pier Angelica ^f   Mannucci, Pier Mannuccio ^a,d   Duga, Stefano ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF PARMA   (Italy)

^c UNIVERSITY OF VERONA   (Italy)

^d FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^e SAN FILIPPO NERI HOSPITAL   (Italy)

^f OSPEDALE NIGUARDA CA GRANDA   (Italy)

Author keywords

Association analysis; Coronary artery disease; Expression experiments; Genetics; MEF2A; Myocardial infarction

Indexed keywords

LUCIFERASE; MYOCYTE ENHANCER FACTOR 2; MADS DOMAIN PROTEIN; MEF2A PROTEIN, HUMAN; MYOGENIC FACTOR;

21 BP GENE DELETION; ADULT; ARTICLE; CONTROLLED STUDY; CORONARY ARTERY DISEASE; EXON; FEMALE; GENE; GENE DELETION; GENE FUNCTION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HEART INFARCTION; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MEF2A GENE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; CASE CONTROL STUDY; CELL LINE; COHORT ANALYSIS; GENETIC PREDISPOSITION; GENETICS; MUTATION;

ADULT; CASE-CONTROL STUDIES; CELL LINE; COHORT STUDIES; CORONARY ARTERY DISEASE; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ITALY; MADS DOMAIN PROTEINS; MALE; MUTATION; MYOCARDIAL INFARCTION; MYOGENIC REGULATORY FACTORS;

EID: 77649219905     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.108.819326     Document Type: Article

References (25)

1. Rosamond W, Flegal K, Friday G, Furie K, Go A, Greenlund K, Haase N, Ho M, Howard V, Kissela B, Kittner S, Lloyd-Jones D, McDermott M, Meigs J, Moy C, Nichol G, O'Donnell CJ, Roger V, Rumsfeld J, Sorlie P, Steinberger J, Thom T, Wasserthiel-Smoller S, Hong Y; American Heart Association Statistics Committee and Stroke Statistics Subcommittee. Heart disease and stroke statistics-2007 update: a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee. Circulation. 2007; 115: e69-e171.
2. Willett WC. Balancing life-style and genomics research for disease prevention. Science. 2002; 296: 695-698.
3. Myers RH, Kiely DK, Cupples LA, Kannel WB. Parental history is an independent risk factor for coronary artery disease: the Framingham Study. Am Heart J. 1990; 120: 963-969.
4. Helgadottir A, Thorleifsson G, Manolescu A, Gretarsdottir S, Blondal T, Jonasdottir A, Jonasdottir A, Sigurdsson A, Baker A, Palsson A, Masson G, Gudbjartsson DF, Magnusson KP, Andersen K, Levey AI, Backman VM, Matthiasdottir S, Jonsdottir T, Palsson S, Einarsdottir H, Gunnarsdottir S, Gylfason A, Vaccarino V, Hooper WC, Reilly MP, Granger CB, Austin H, Rader DJ, Shah SH, Quyyumi AA, Gulcher JR, Thorgeirsson G, Thorsteinsdottir U, Kong A, Stefansson K. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007; 316: 1491-1493. (Pubitemid 46906618)
5. 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: 1488-1491. (Pubitemid 46906617)
6. Wellcome Trust Case Control Consortium. Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature. 2007; 447: 661-678.
7. Samani NJ, Erdmann J, Hall AS, Hengstenberg C, Mangino M, Mayer B, Dixon RJ, Meitinger T, Braund P, Wichmann HE, Barrett JH, König IR, Stevens SE, Szymczak S, Tregouet DA, Iles MM, Pahlke F, Pollard H, Lieb W, Cambien F, Fischer M, Ouwehand W, Blankenberg S, Balmforth AJ, Baessler A, Ball SG, Strom TM, Braenne I, Gieger C, Deloukas P, Tobin MD, Ziegler A, Thompson JR, Schunkert H; WTCCC and the Cardiogenics Consortium. Genomewide association analysis of coronary artery disease. N Engl J Med. 2007; 357: 443-453. (Pubitemid 47204873)
8. Wang L, Fan C, Topol SE, Topol EJ, Wang Q. Mutation of MEF2A in an inherited disorder with features of coronary artery disease. Science. 2003; 302: 1578-1581%.
9. Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. The human genome browser at UCSC. Genome Res. 2002; 12: 996-1006%.
10. Yu YT. Distinct domains of myocyte enhancer binding factor-2A determining nuclear localization and cell type-specific transcriptional activity. J Biol Chem. 1996; 271: 24675-24683.
11. Bhagavatula MR, Fan C, Shen GQ, Cassano J, Plow EF, Topol EJ, Wang Q. Transcription factor MEF2A mutations in patients with coronary artery disease. Hum Mol Genet. 2004; 13: 3181-3188.
12. Weng L, Kavaslar N, Ustaszewska A, Doelle H, Schackwitz W, Hébert S, Cohen JC, McPherson R, Pennacchio LA. Lack of MEF2A mutations in coronary artery disease. J Clin Invest. 2005; 115: 1016-1020.
13. Kajimoto K, Shioji K, Tago N, Tomoike H, Nonogi H, Goto Y, Iwai N. Assessment of MEF2A mutations in myocardial infarction in Japanese patients. Circ J. 2005; 69: 1192-1195.
14. González P, García-Castro M, Reguero JR, Batalla A, Ordóñez AG, Palop RL, Lozano I, Montes M, Alvarez V, Coto E. The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction. J Med Genet. 2006; 43: 167-169.
15. Horan PG, Allen AR, Hughes AE, Patterson CC, Spence M, McGlinchey PG, Belton C, Jardine TC, McKeown PP. Lack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based study. BMC Med Genet. 2006; 27: 65.
16. Li J, Yang JG, Li W, Du R, Gui L, Tian L, Guo QH. Study on novel mutations of MEF2A gene in Chinese patients with coronary artery disease. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006; 23: 265-268.
17. Han Y, Yang Y, Zhang X, Yan C, Xi S, Kang J. Relationship of the CAG repeat polymorphism of the MEF2A gene and coronary artery disease in a Chinese population. Clin Chem Lab Med. 2007; 45: 987-992. (Pubitemid 47424849)
18. Lieb W, Mayer B, König IR, Borwitzky I, Götz A, Kain S, Hengstenberg C, Linsel-Nitschke P, Fischer M, Döring A, Wichmann HE, Meitinger T, Kreutz R, Ziegler A, Schunkert H, Erdmann J. Lack of association between the MEF2A gene and myocardial infarction. Circulation. 2008; 117: 185-191%.
19. Atherosclerosis, Thrombosis, and Vascular Biology Italian Study Group. No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age. Circulation. 2003; 107: 1117-1122.
20. Girelli D, Martinelli N, Trabetti E, Olivieri O, Cavallari U, Malerba G, Busti F, Friso S, Pizzolo F, Pignatti PF, Corrocher R. ALOX5AP gene variants and risk of coronary artery disease: an angiography-based study. Eur J Hum Genet. 2007; 15: 959-966.
21. Marchuk D, Drumm M, Saulino A, Collins FS. Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. Nucleic Acids Res. 1991; 19: 1154.
22. Raymond M, Rousset F. GENEPOP (version 1.2) : Population genetic software for exact test and ecumenicism. J Hered. 1995; 86: 248-249.
23. Sham PC, Curtis D. Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann Hum Genet. 1995; 59: 97-105.
24. Borghi S, Molinari S, Razzini G, Parise F, Battini R, Ferrari S. The nuclear localization domain of the MEF2 family of transcription factors shows member-specific features and mediates the nuclear import of histone deacetylase 4. J Cell Sci. 2001; 114: 4477-4483.
25. Peltonen L, Perola M, Naukkarinen J, Palotie A. Lessons from studying monogenic disease for common disease. Hum Mol Genet. 2006; 15: R67-R74.