Genetic variation in the KCNMA1 potassium channel α subunit as risk factor for severe essential hypertension and myocardial infarction

Journal of Hypertension

Volumn 26, Issue 11, 2008, Pages 2147-2153

  Tomás, Marta ^a   Vázquez, Esther ^b   Fernández Fernández, José M ^b   Subirana, Isaac ^a   Plata, Cristina ^b   Heras, Magda ^c   Vila, Joan ^a   Marrugat, Jaume ^a   Valverde, Miguel A ^b   Sentí, Mariano ^a,b,d  

^a INST MUNIC D INVESTIGACIO MEDICA   (Spain)

^b UNIVERSITAT POMPEU FABRA   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

^d Barcelona Biomedical Research Park   (Spain)

Author keywords

Ca2+ dependent potassium channel; Genetic association study; Haplotypes; Hypertension; Ion channels; Single nucleotide polymorphism; Splice variant

Indexed keywords

LARGE CONDUCTANCE CALCIUM ACTIVATED POTASSIUM CHANNEL ALPHA SUBUNIT; KCNMA1 PROTEIN, HUMAN; KCNMB1 PROTEIN, HUMAN; LARGE CONDUCTANCE CALCIUM ACTIVATED POTASSIUM CHANNEL BETA SUBUNIT;

ADULT; AGED; ALTERNATIVE RNA SPLICING; ARTICLE; CARDIOVASCULAR RISK; CONTROLLED STUDY; DIASTOLIC BLOOD PRESSURE; DISEASE SEVERITY; ESSENTIAL HYPERTENSION; FEMALE; GENE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC RISK; GENOTYPE; HAPLOTYPE; HEART INFARCTION; HUMAN; KCNMA1 GENE; MAJOR CLINICAL STUDY; MALE; POPULATION RISK; PRIORITY JOURNAL; RISK ASSESSMENT; SEQUENCE ANALYSIS; SPLICING DEFECT; SYSTOLIC BLOOD PRESSURE; SYSTOLIC HYPERTENSION; GENETIC PREDISPOSITION; GENETICS; HEALTH SURVEY; HYPERTENSION; METABOLISM; MIDDLE AGED; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN;

ADULT; AGED; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERTENSION; LARGE-CONDUCTANCE CALCIUM-ACTIVATED POTASSIUM CHANNEL ALPHA SUBUNITS; LARGE-CONDUCTANCE CALCIUM-ACTIVATED POTASSIUM CHANNEL BETA SUBUNITS; MALE; MIDDLE AGED; MYOCARDIAL INFARCTION; POLYMORPHISM, SINGLE NUCLEOTIDE; POPULATION SURVEILLANCE; RISK FACTORS; SPAIN;

EID: 56049089622     PISSN: 02636352     EISSN: None     Source Type: Journal    
DOI: 10.1097/HJH.0b013e32831103d8     Document Type: Article

References (31)

1. Touyz RM. Molecular and cellular mechanisms regulating vascular function and structure-implications in the pathogenesis of hypertension. Can J Cardiol 2000; 16:1137-1146.
2. Cain AE, Khalil RA. Pathophysiology of essential hypertension: role of the pump, the vessel, and the kidney. Semin Nephrol 2002; 22:3-16.
3. Luft FC. Hypertension as a complex genetic trait. Semin Nephrol 2002; 22:115-126.
4. Lifton RP, Gharavi AG, Geller DS. Molecular mechanisms of humanhypertension. Cell 2001; 104:545-556.
5. Zhu Y, Bian Z, Lu P, Karas RH, Bao L, Cox D, et al. Abnormal vascularfunction and hypertension in mice deficient in estrogen receptor beta. Science 2002; 295:505-508.
6. Amberg GC, Santana LF. Downregulation of the BK channel beta1 subunit in genetic hypertension. Circ Res 2003; 93:965-971.
7. Fernandez-Fernandez JM, TomásM,Vázquez E, Orio P, Latorre R, SentfíM, 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.
8. Crowley SD, Gurley SB, Oliverio MI, Pazmino AK, Griffiths R, Flannery PJ, et al. Distinct roles for the kidney and systemic tissues in blood pressure regulation by the renin-angiotensin system. J Clin Invest 2005; 115:1092-1099.
9. Bernal-Mizrachi C, Gates AC, Weng S, Imamura T, Knutsen RH, DeSantis P, et al. Vascular respiratory uncoupling increases blood pressure and atherosclerosis. Nature 2005; 435:502-506.
10. Persu A, Vinck WJ, El Khattabi O, Janssen RG, Paulussen AD, Devuyst O, et al. Influence of the endothelial nitric oxide synthase gene on conventional and ambulatory blood pressure: sib-pair analysis and haplotype study. J Hypertens 2005; 23:759-765.
11. Mendelsohn ME. In hypertension, the kidney is not always the heart of the matter. J Clin Invest 2005; 115:840-844.
12. SentfíM, Fernández-Fernández JM, TomásM,Vázquez E, Elosua R, Marrugat J, Valverde MA. 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.
13. Meera P, Wallner M, Jiang Z, Toro L. A calcium switch for the functional coupling between alpha (hslo) and beta subunits (Kv,cabeta) of maxi K channels. FEBS Lett 1996; 385:127-128.
14. Tanaka Y,Meera P, SongM, Knaus HG, Toro L.Molecular constituents of maxi KCa channels in human coronary smoothmuscle: predominant alpha beta subunit complexes. J Physiol (Lond) 1997; 502:545-557.
15. Orio P, Rojas P, Ferreira G, Latorre R. New disguises for an old channel: MaxiK channel beta-subunits. News Physiol Sci 2002; 17:156-161.
16. Jaggar JH, Porter VA, Lederer WJ, Nelson MT. Calcium sparks in smooth muscle. Am J Physiol Cell Physiol 2000; 278:C235-C256.
17. Brenner R, Perez GJ, Bonev AD, Eckman EM, Kosec JC, Wiler SW, et al. Vasoregulation by the beta1 subunit of the calcium-activated potassium channel. Nature 2000; 407:870-876.
18. Pluger S, Faulhaber J, Furstenau M, Lhon M, Waldschutz R, Gollasch M, et al. Mice with disrupted BK channel beta1 subunit gene feature abnormal Ca2 spark/STOC coupling and elevated blood pressure. Circ Res 2000; 87:E53-E60.
19. Gollasch M, Tank J, Luft FC, Jordan J, Maass P, Krasko C, et al. The BK channel beta1 subunit gene is associated with human barorefiex and blood pressure regulation. J Hypertens 2002; 20:927-933.
20. Sausbier M, Arntz C, Bucurenciu I, Zhao H, Zhou XB, Sausbier U, et al. Elevated blood pressure linked to primary hyperaldosteronism and impaired vasodilation in BK channel-deficient mice. Circulation 2005;112:60-68.
21. Oudejans CB,Mulders J, Lachmeijer AM, van DijkM, Konst AA,Westerman BA, et al. The parent-of-origin effect of 10q22 in preeclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas. Mol Hum Reprod 2004; 10:589-598.
22. Bowles KR, Abraham SE, Brugada R, Zintz C, Comeaux J, Sorajja D, et al. Construction of a high-resolution physical map of the chromosome 10q22- q23 dilated cardiomyopathy locus and analysis of candidate genes. Genomics 2000; 67:109-127.
23. Turner ST, Kardia SL, Boerwinkle E, Andrade MM. Multivariate linkage analysis of blood pressure and body mass index. Genet Epidemiol 2004; 27:64-73.
24. Pallanck L, Ganetzky B. Cloning and characterization of human and mouse homologs of the Drosophila calcium-activated potassium channel gene, slowpoke. Hum Mol Genet 1994; 3:1239-1243.
25. Masia R, Pena A, Marrugat J, Sala J, Vila J, Pavesi M, et al. High prevalence of cardiovascular risk factors in Girona, Spain, a province with low myocardial infarction incidence. REGICOR Investigators. J Epidemiol Community Health 1998; 52:707-715.
26. The fifth report of the Joint National Committee on Detection, Evaluation,and Treatment of High Blood Pressure (JNC V). Arch Intern Med 1993; 153:154-183.
27. Miguel-Velado E, Moreno-Domfínguez A, Colinas O, Cidad P, Heras M, Pérez-Garcfía MT, López-López JR. Contribution of Kv channels to phenotypic remodeling of human uterine artery smooth muscle cells. Circ Res 2005; 97:1280-1287.
28. Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987; 162:156-159.
29. Fernandez-Fernandez JM, Nobles M, Currid A, Vazquez E, Valverde MA. Maxi K channel mediates regulatory volume decrease response in a human bronchial epithelial cell line. Am J Physiol Cell Physiol 2002; 283:C1705-C1714.
30. Ledoux J, Werner ME, Brayden JE, Nelson MT. Calcium-activated potassium channels and the regulation of vascular tone. Physiology (Bethesda) 2006; 21:69-78.
31. Timchenko LT, Miller JW, Timchenko NA, DeVore DR, Datar KV, Lin L, et al. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res 1996; 24:4407-4414.