Association of an intronic, but not any exonic, FRMD4B sequence variant and heart failure

Clinical and Translational Science

Volumn 3, Issue 4, 2010, Pages 134-139

  Matkovich, Scot J ^a   Van Booven, Derek J ^a   Cappola, Thomas P ^b   Dorn II, Gerald W ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Cardiomyopathy; Heart failure; Molecular genetics

Indexed keywords

DNA;

ADULT; AFRICAN AMERICAN; ARTICLE; CARDIOMYOPATHY; CAUCASIAN; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; FRMD4B GENE; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HEART FAILURE; HEART MUSCLE ISCHEMIA; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTRON; ISCHEMIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RACE DIFFERENCE; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; CARDIOMYOPATHIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HEART FAILURE; HUMANS; INTRONS; MALE; MIDDLE AGED; RISK FACTORS;

EID: 77955767759     PISSN: 17528054     EISSN: 17528062     Source Type: Journal    
DOI: 10.1111/j.1752-8062.2010.00220.x     Document Type: Article

References (23)

1. Richard P, Villard E, Charron P, Isnard R. The genetic bases of cardiomyopathies. J Am Coll Cardiol 2006, 48:A79-A89.
2. Larson MG, Atwood LD, Benjamin EJ, Cupples LA, D'Agostino RB, Fox CS, Govindaraju DR, Guo CY, Heard-Costa NL, Hwang SJ, Murabito JM, Newton-Cheh C, O'Donnell CJ, Seshadri S, Vasan RS, Wang TJ, Wolf PA, Levy D. Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes. BMC Med Genet 2007, 8(Suppl 1):S5.
3. Vasan RS, Glazer NL, Felix JF, Lieb W, Wild PS, Felix SB, Watzinger N, Larson MG, Smith NL, Dehghan A, Grosshennig A, Schillert A, Teumer A, Schmidt R, Kathiresan S, Lumley T, Aulchenko YS, Konig IR, Zeller T, Homuth G, Struchalin M, Aragam J, Bis JC, Rivadeneira F, Erdmann J, Schnabel RB, Dorr M, Zweiker R, Lind L, Rodeheffer RJ, Greiser KH, Levy D, Haritunians T, Deckers JW, Stritzke J, Lackner KJ, Volker U, Ingelsson E, Kullo I, Haerting J, O'Donnell CJ, Heckbert SR, Stricker BH, Ziegler A, Reffelmann T, Redfield MM, Werdan K, Mitchell GF, Rice K, Arnett DK, Hofman A, Gottdiener JS, Uitterlinden AG, Meitinger T, Blettner M, Friedrich N, Wang TJ, Psaty BM, van Duijn CM, Wichmann HE, Munzel TF, Kroemer HK, Benjamin EJ, Rotter JI, Witteman JC, Schunkert H, Schmidt H, Volzke H, Blankenberg S. Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. JAMA 2009, 302:168-178.
4. Small KM, Wagoner LE, Levin AM, Kardia SL, Liggett SB. Synergistic polymorphisms of beta1- and alpha2C-adrenergic receptors and the risk of congestive heart failure. N Engl J Med 2002, 347:1135-1142.
5. Canham RM, Das SR, Leonard D, Abdullah SM, Mehta SK, Chung AK, Li JL, Victor RG, Auchus RJ, Drazner MH. Alpha2cDel322-325 and beta1Arg389 adrenergic polymorphisms are not associated with reduced left ventricular ejection fraction or increased left ventricular volume. J Am Coll Cardiol 2007, 49:274-276.
6. Nonen S, Okamoto H, Akino M, Matsui Y, Fujio Y, Yoshiyama M, Takemoto Y, Yoshikawa J, Azuma J, Kitabatake A. No positive association between adrenergic receptor variants of alpha2cDel322-325, beta1Ser49, beta1Arg389 and the risk for heart failure in the Japanese population. Br J Clin Pharmacol 2005, 60:414-417.
7. Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SF, Farlow DN, Chandrupatla HR, Hansen M, Ajmal S, Papanicolaou GJ, Guo Y, Li M, Derohannessian S, de Bakker PI, Bailey SD, Montpetit A, Edmondson AC, Taylor K, Gai X, Wang SS, Fornage M, Shaikh T, Groop L, Boehnke M, Hall AS, Hattersley AT, Frackelton E, Patterson N, Chiang CW, Kim CE, Fabsitz RR, Ouwehand W, Price AL, Munroe P, Caulfield M, Drake T, Boerwinkle E, Reich D, Whitehead AS, Cappola TP, Samani NJ, Lusis AJ, Schadt E, Wilson JG, Koenig W, McCarthy MI, Kathiresan S, Gabriel SB, Hakonarson H, Anand SS, Reilly M, Engert JC, Nickerson DA, Rader DJ, Hirschhorn JN, Fitzgerald GA. Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS ONE 2008, 3:e3583.
8. Clarke R, Peden JF, Hopewell JC, Kyriakou T, Goel A, Heath SC, Parish S, Barlera S, Franzosi MG, Rust S, Bennett D, Silveira A, Malarstig A, Green FR, Lathrop M, Gigante B, Leander K, de Faire U, Seedorf U, Hamsten A, Collins R, Watkins H, Farrall M. Genetic variants associated with Lp(a) lipoprotein level and coronary disease. N Engl J Med 2009, 361:2518-2528.
9. Cappola TP, Li M, He J, Ky B, Gilmore J, Qu L, Keating B, Reilly M, Kim CE, Glessner J, Frackelton E, Hakonarson H, Syed F, Hindes A, Matkovich SJ, Cresci S, Dorn GW. Common variants in HSPB7 and FRMD4B associated with advanced heart failure. Circ Cardiovasc Genet 2010, 3:147-154.
10. Krief S, Faivre JF, Robert P, Le Douarin B, Brument-Larignon N, Lefräre I, Bouzyk MM, Anderson KM, Greller LD, Tobin FL, Souchet M, Bril A. Identification and characterization of cvHsp. A novel human small stress protein selectively expressed in cardiovascular and insulin-sensitive tissues. J Biol Chem 1999, 274:36595-36600.
11. Matkovich SJ, Van Booven DJ, Hindes A, Kang MY, Druley TE, Vallania FL, Mitra RD, Reilly MP, Cappola TP, Dorn GW. Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease. J Clin Invest 2010, 120:280-289.
12. Klarlund JK, Holik J, Chawla A, Park JG, Buxton J, Czech MP. Signaling complexes of the FERM domain-containing protein GRSP1 bound to ARF exchange factor GRP1. J Biol Chem 2001, 276:40065-40070.
13. Liggett SB, Cresci S, Kelly RJ, Syed FM, Matkovich SJ, Hahn HS, Diwan A, Martini JS, Sparks L, Parekh RR, Spertus JA, Koch WJ, Kardia SL, Dorn GW. A GRK5 polymorphism that inhibits beta-adrenergic receptor signaling is protective in heart failure. Nat Med 2008, 14:510-517.
14. Cresci S, Kelly RJ, Cappola TP, Diwan A, Dries D, Kardia SL, Dorn GW. Clinical and genetic modifiers of long-term survival in heart failure. J Am Coll Cardiol 2009, 54:432-444.
15. Lee DS, Pencina MJ, Benjamin EJ, Wang TJ, Levy D, O'Donnell CJ, Nam BH, Larson MG, D'Agostino RB, Vasan RS. Association of parental heart failure with risk of heart failure in offspring. N Engl J Med 2006, 355:138-147.
16. Dorn GW, Cresci S. Genome-wide association studies of coronary artery disease and heart failure: where are we going?. Pharmacogenomics 2009, 10:213-223.
17. Zhang L, Vincent GM, Baralle M, Baralle FE, Anson BD, Benson DW, Whiting B, Timothy KW, Carlquist J, January CT, Keating MT, Splawski I. An intronic mutation causes long QT syndrome. J Am Coll Cardiol 2004, 44:1283-1291.
18. Gallus GN, Cardaioli E, Rufa A, Da Pozzo P, Bianchi S, D'Eramo C, Collura M, Tumino M, Pavone L, Federico A. Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy. Mol Vis 2010, 16:178-183.
19. Alonso CR, Akam M. A Hox gene mutation that triggers nonsense-mediated RNA decay and affects alternative splicing during Drosophila development. Nucleic Acids Res 2003, 31:3873-3880.
20. Dehainault C, Michaux D, Pages-Berhouet S, Caux-Moncoutier V, Doz F, Desjardins L, Couturier J, Parent P, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C. A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation. Eur J Hum Genet 2007, 15:473-477.
21. Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, Grumati P, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. BMC Med Genet 2010, 11:44.
22. Collins FS, Guyer MS, Charkravarti A. Variations on a theme: cataloging human DNA sequence variation. Science 1997, 278:1580-1581.
23. Reich DE, Lander ES. On the allelic spectrum of human disease. Trends Genet 2001, 17:502-510.