A gain-of-function SNP in TRPC4 cation channel protects against myocardial infarction

Cardiovascular Research

Volumn 91, Issue 3, 2011, Pages 465-471

  Jung, Carole ^a   Gen, Gemma G ^a   Toms, Marta ^b   Plata, Cristina ^a   Selent, Jana ^a   Pastor, Manuel ^a   Fandos, Csar ^a   Senti, Mariano ^a,b   Lucas, Gavin ^b   Elosua, Roberto ^b,c   Valverde, Miguel A ^a  

^a UNIVERSITAT POMPEU FABRA   (Spain)

^b HOSPITAL DEL MAR   (Spain)

^c CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP   (Spain)

Author keywords

Calcium; Gene polymorphisms; Genetics of cardiovascular diseases; Myocardial infarction; TRP ion channels

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; PROTEIN TYROSINE KINASE; TRANSIENT RECEPTOR POTENTIAL CHANNEL 4;

ANIMAL CELL; ARTICLE; CALCIUM CELL LEVEL; CELL MEMBRANE; CELL STRAIN HEK293; CHO CELL; CONTROLLED STUDY; DIABETIC PATIENT; ENZYME ACTIVE SITE; FEMALE; GAIN OF FUNCTION MUTATION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; HEART INFARCTION; HEART PROTECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS;

ADULT; AGED; ANALYSIS OF VARIANCE; ANIMALS; CALCIUM SIGNALING; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; CHO CELLS; CRICETINAE; CRICETULUS; DIABETES COMPLICATIONS; EXONS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HEK293 CELLS; HUMANS; LINKAGE DISEQUILIBRIUM; LOGISTIC MODELS; MALE; MEMBRANE POTENTIALS; MIDDLE AGED; MODELS, MOLECULAR; MUSCARINIC AGONISTS; MUTAGENESIS, SITE-DIRECTED; MYOCARDIAL INFARCTION; ODDS RATIO; PATCH-CLAMP TECHNIQUES; PHENOTYPE; PHOSPHORYLATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN CONFORMATION; RISK ASSESSMENT; RISK FACTORS; SPAIN; STRUCTURE-ACTIVITY RELATIONSHIP; TRANSFECTION; TRPC CATION CHANNELS;

EID: 79960825334     PISSN: 00086363     EISSN: 17553245     Source Type: Journal    
DOI: 10.1093/cvr/cvr083     Document Type: Article

References (39)

1. Montell C. The TRP superfamily of cation channels. Sci STKE 2005;2005:re3.
2. Inoue R, Jensen LJ, Shi J, Morita H, Nishida M, Honda A et al. Transient receptor potential channels in cardiovascular function and disease. Circ Res 2006;99:119-131. (Pubitemid 44297035)
3. Firth AL, Remillard CV, Yuan JX. TRP channels in hypertension. Biochim Biophys Acta 2007;1772:895-906. (Pubitemid 47176371)
4. Thilo F, Baumunk D, Krause H, Schrader M, Miller K, Loddenkemper C et al. Transient receptor potential canonical type 3 channels and blood pressure in humans. J Hypertens 2009;27:1217-1223.
5. Smedlund K, Vazquez G. Involvement of native TRPC3 proteins in ATP-dependent expression of VCAM-1 and monocyte adherence in coronary artery endothelial cells. Arterioscler Thromb Vasc Biol 2008;28:2049-2055.
6. Pozsgai G, Bodkin JV, Graepel R, Bevan S, Andersson DA, Brain SD. Evidence for the pathophysiological relevance of TRPA1 receptors in the cardiovascular system in vivo. Cardiovasc Res 2010;87:760-768.
7. Yu Y, Keller SH, Remillard CV, Safrina O, Nicholson A, Zhang SL et al. A functional single-nucleotide polymorphism in the TRPC6 gene promoter associated with idiopathic pulmonary arterial hypertension. Circulation 2009;119:2313-2322.
8. Tian W, Fu Y, Garcia-Elias A, Fernandez-Fernandez JM, Vicente R, Kramer PL et al. A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia. Proc Natl Acad Sci USA 2009;106:14034-14039.
9. Cantero-Recasens G, Gonzalez JR, Fandos C, Duran-Tauleria E, Smit LA, Kauffmann F et al. Loss of function of transient receptor potential vanilloid 1 (TRPV1) genetic variant is associated with lower risk of active childhood asthma. J Biol Chem 2010; 285:27532-27535.
10. Yip H, Chan WY, Leung PC, Kwan HY, Liu C, Huang Y et al. Expression of TRPC homologs in endothelial cells and smooth muscle layers of human arteries. Histochem Cell Biol 2004;122:553-561. (Pubitemid 40174592)
11. 2+ entry in TRPC4(-/-) mice interferes with increase in lung microvascular permeability. Circ Res 2002;91:70-76. (Pubitemid 34778944)
12. Zhang S, Remillard CV, Fantozzi I, Yuan JX. ATP-induced mitogenesis is mediated by cyclic AMP response element-binding protein-enhanced TRPC4 expression and activity in human pulmonary artery smooth muscle cells. Am J Physiol Cell Physiol 2004;287:C1192-C1201. (Pubitemid 39382877)
13. 2+ current impairs agonist-dependent vasorelaxation in TRP4-/- mice. Nat Cell Biol 2001;3:121-127. (Pubitemid 32118364)
14. Schaefer M, Plant TD, Obukhov AG, Hofmann T, Gudermann T, Schultz G. Receptormediated regulation of the nonselective cation channels TRPC4 and TRPC5. J Biol Chem 2000;275:17517-17526. (Pubitemid 30430793)
15. Odell AF, Scott JL, Van Helden DF. Epidermal growth factor induces tyrosine phosphorylation, membrane insertion, and activation of transient receptor potential channel 4. J Biol Chem 2005;280:37974-37987. (Pubitemid 41642411)
16. Otsuguro K, Tang J, Tang Y, Xiao R, Freichel M, Tsvilovskyy V et al. Isoform-specific inhibition of TRPC4 channel by phosphatidylinositol 4,5-bisphosphate. J Biol Chem 2008;283:10026-10036.
17. Jaggar JH, Porter VA, Lederer WJ, Nelson MT. Calcium sparks in smooth muscle. Am J Physiol Cell Physiol 2000;278:C235-C256. (Pubitemid 30131140)
18. McDonald TF, Pelzer S, Trautwein W, Pelzer DJ. Regulation and modulation of calcium channels in cardiac, skeletal, and smooth muscle cells. Physiol Rev 1994;74: 365-507. (Pubitemid 24127646)
19. Thorneloe KS, Nelson MT. Ion channels in smooth muscle: regulators of intracellular calcium and contractility. Can J Physiol Pharmacol 2005;83:215-242. (Pubitemid 40942310)
20. Dick GM, Tune JD. Role of potassium channels in coronary vasodilation. Exp Biol Med (Maywood) 2010;235:10-22.
21. Fernandez-Fernandez JM, Tomas M, Vazquez E, Orio P, Latorre R, Senti M et al. Gain-of-function mutation in the KCNMB1 potassium channel subunit is associated with low prevalence of diastolic hypertension. J Clin Invest 2004;113:1032-1039. (Pubitemid 38544125)
22. Tomas M, Vazquez E, Fernandez-Fernandez JM, Subirana I, Plata C, Heras M et al. Genetic variation in the KCNMA1 potassium channel alpha subunit as risk factor for severe essential hypertension and myocardial infarction. J Hypertens 2008;26: 2147-2153.
23. Senti M, Fernandez-Fernandez JM, Tomas M, Vazquez E, Elosua R, Marrugat J et al. Protective effect of the KCNMB1 E65K genetic polymorphism against diastolic hypertension in aging women and its relevance to cardiovascular risk. Circ Res 2005;97: 1360-1365.
24. Beitelshees AL, Gong Y, Wang D, Schork NJ, Cooper-Dehoff RM, Langaee TY et al. KCNMB1 genotype influences response to verapamil SR and adverse outcomes in the INternational VErapamil SR/Trandolapril STudy (INVEST). Pharmacogenet Genomics 2007;17:719-729. (Pubitemid 47263067)
25. Beitelshees AL, Navare H, Wang D, Gong Y, Wessel J, Moss JI et al. CACNA1C gene polymorphisms, cardiovascular disease outcomes, and treatment response. Circ Cardiovasc Genet 2009;2:362-370.
26. +-channel genes and cardiovascular disease. Pflugers Arch 2010;460:343-351.
27. Nilius B, Droogmans G. Ion channels and their functional role in vascular endothelium. Physiol Rev 2001;81:1415-1459. (Pubitemid 32947776)
28. Serban DN, Nilius B, Vanhoutte PM. The endothelial saga: the past, the present, the future. Pflugers Arch 2010;459:787-792.
29. Nora JJ, Lortscher RH, Spangler RD, Nora AH, Kimberling WJ. Genetic-epidemiologic study of early-onset ischemic heart disease. Circulation 1980;61:503-508. (Pubitemid 10179693)
30. Musunuru K, Kathiresan S. Genetics of coronary artery disease. Annu Rev Genomics Hum Genet 2010;11:91-108.
31. Musunuru K, Strong A, Frank-Kamenetsky M, Lee NE, Ahfeldt T, Sachs KV et al. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature 2010;466:714-719.
32. Masia R, Pena A, Marrugat J, Sala J, Vila J, Pavesi M et al. High prevalence of cardiovascular risk factors in Gerona, Spain, a province with low myocardial infarction incidence. REGICOR Investigators. J Epidemiol Community Health 1998;52:707-715. (Pubitemid 28491029)
33. Fernandes J, Lorenzo IM, Andrade YN, Garcia-Elias A, Serra SA, Fernandez-Fernandez JM et al. IP3 sensitizes TRPV4 channel to the mechano- and osmotransducing messenger 5́-6́-epoxyeicosatrienoic acid. J Cell Biol 2008;181: 143-155. (Pubitemid 351519771)
34. Abdullaev IF, Bisaillon JM, Potier M, Gonzalez JC, Motiani RK, Trebak M. Stim1 and Orai1 mediate CRAC currents and store-operated calcium entry important for endothelial cell proliferation. Circ Res 2008;103:1289-1299.
35. Tsai W, Morielli AD, Peralta EG. The m1 muscarinic acetylcholine receptor transactivates the EGF receptor to modulate ion channel activity. EMBO J 1997;16: 4597-4605. (Pubitemid 27326597)
36. Blom N, Gammeltoft S, Brunak S. Sequence and structure-based prediction of eukaryotic protein phosphorylation sites. J Mol Biol 1999;294:1351-1362. (Pubitemid 30008805)
37. Zecchin HG, Priviero FB, Souza CT, Zecchin KG, Prada PO, Carvalheira JB et al. Defective insulin and acetylcholine induction of endothelial cell-nitric oxide synthase through insulin receptor substrate/Akt signaling pathway in aorta of obese rats. Diabetes 2007;56:1014-1024. (Pubitemid 46525080)
38. Huang PL. eNOS, metabolic syndrome and cardiovascular disease. Trends Endocrinol Metab 2009;20:295-302.
39. Kearney MT, Duncan ER, Kahn M, Wheatcroft SB. Insulin resistance and endothelial cell dysfunction: studies in mammalian models. Exp Physiol 2008;93:158-163. (Pubitemid 350293975)