Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension

BMC Medical Genetics

Volumn 6, Issue , 2005, Pages

  Hannila Handelberg, Tuula ^a   Kontula, Kimmo ^a   Tikkanen, Ilkka ^a   Tikkanen, Tuula ^a   Fyhrquist, Frej ^a   Helin, Karri ^a   Fodstad, Heidi ^a   Piippo, Kirsi ^a   Meittinen, Helena E ^a   Virtamo, Jarmo ^b   Krusius, Tom ^c   Sarna, Seppo ^a   Gautschi, Ivan ^d   Schild, Laurent ^d   Hiltunen, Timo P ^a,e  

^a UNIVERSITY OF HELSINKI   (Finland)

^b NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^c FINNISH RED CROSS BLOOD SERVICE   (Finland)

^d UNIVERSITY OF LAUSANNE   (Switzerland)

^e JORVI HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; AMINO ACID; ANGIOTENSIN; CAPTOPRIL; GAMMA CHAIN; GENOMIC DNA; MESSENGER RNA; POTASSIUM ION; PROTEIN SUBUNIT; RENIN; SODIUM CHANNEL; UNCLASSIFIED DRUG; EPITHELIAL SODIUM CHANNEL; SCNN1B PROTEIN, HUMAN;

ADULT; ALDOSTERONE BLOOD LEVEL; ALLELE; ANIMAL CELL; ARTICLE; BETA CHAIN; CONTROLLED STUDY; EPITHELIAL SODIUM CHANNEL GENE; ESSENTIAL HYPERTENSION; FEMALE; FINLAND; GENE; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INTRON; LIDDLE SYNDROME; MAJOR CLINICAL STUDY; MALE; NONHUMAN; PLASMA RENIN ACTIVITY; POTASSIUM EXCRETION; PREVALENCE; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; WILD TYPE; XENOPUS; AGED; BLOOD; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; HYPERTENSION; MIDDLE AGED; PROTEIN SUBUNIT;

ADULT; AGED; ALDOSTERONE; ALLELES; EPITHELIAL SODIUM CHANNELS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; HYPERTENSION; MALE; MIDDLE AGED; PROTEIN SUBUNITS; RENIN; RENIN-ANGIOTENSIN SYSTEM; SEQUENCE ANALYSIS, DNA; SODIUM CHANNELS;

EID: 26444449603     PISSN: 14712350     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-6-4     Document Type: Article

References (38)

1. Lifton RP, Gharavi AG, Geller DS: Molecular mechanisms of human hypertension. Cell 2001, 104:545-556.
2. Wilson FH, Disse-Nicodeme S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford DV, Lipkin GW, Achard JM, Feely MP, Dussol B, Berland Y, Unwin RJ, Mayan H, Simon DB, Farfel Z, Jeunemaitre X, Lifton RP: Human hypertension caused by mutations in WNK kinases. Science 2001, 293:1107-1112.
3. Jeunemaitre X, Soubrier F, Kotelevtsev YV, Lifton RP, Williams CS, Charru A, Hunt SC, Hopkins PN, Williams RR, Lalouel JM, et al.: Molecular basis of human hypertension: role of angiotensinogen. Cell 1992, 71:169-180.
4. Cusi D, Barlassina C, Azzani T, Casari G, Citterio L, Devoto M, Glorioso N, Lanzani C, Manunta P, Righetti M, Rivera R, Stella P, Troffa C, Zagato L, Bianchi G: Polymorphisms of alpha-adducin and salt sensitivity in patients with essential hypertension. Lancet 1997, 349:1353-1357.
5. Siffert W, Rosskopf D, Siffert G, Busch S, Moritz A, Erbel R, Sharma AM, Ritz E, Wichmann HE, Jakobs KH, Horsthemke B: Association of a human G-protein beta3 subunit variant with hypertension. Nat Genet 1998, 18:45-48.
6. Samani NJ: Genome scans for hypertension and blood pressure regulation. Am J Hypertens 2003, 16:167-171.
7. Province MA, Kardia SL, Ranade K, Rao DC, Thiel BA, Cooper RS, Risch N, Turner ST, Cox DR, Hunt SC, Weder AB, Boerwinkle E: A meta-analysis of genome-wide linkage scans for hypertension: the National Heart, Lung and Blood Institute Family Blood Pressure Program. Am J Hypertens 2003, 16:144-147.
8. Rao DC, Province MA, Leppert MF, Oberman A, Heiss G, Ellison RC, Arnett DK, Eckfeldt JH, Schwander K, Mockrin SC, Hunt SC: A genome-wide affected sibpair linkage analysis of hypertension: the HyperGEN network. Am J Hypertens 2003, 16:148-150.
9. Thiel BA, Chakravarti A, Cooper RS, Luke A, Lewis S, Lynn A, Tiwari H, Schork NJ, Weder AB: A genome-wide linkage analysis investigating the determinants of blood pressure in whites and African Americans. Am J Hypertens 2003, 16:151-153.
10. Ranade K, Hinds D, Hsiung CA, Chuang LM, Chang MS, Chen YT, Pesich R, Hebert J, Chen YD, Dzau V, Olshen R, Curb D, Botstein D, Cox DR, Risch N: A genome scan for hypertension susceptibility loci in populations of Chinese and Japanese origins. Am J Hypertens 2003, 16:158-162.
11. Kardia SL, Rozek LS, Krushkal J, Ferrell RE, Turner ST, Hutchinson R, Brown A, Sing CF, Boerwinkle E: Genome-wide linkage analyses for hypertension genes in two ethnically and geographically diverse populations. Am J Hypertens 2003, 16:154-157.
12. Lalouel JM: Large-scale search for genes predisposing to essential hypertension. Am J Hypertens 2003, 16:163-166.
13. Liddle GW, Bledsoe T, Coppage WS: A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Assoc Physicians 1963, 76:199-213.
14. Shimkets RA, Warnock DG, Bositis CM, Nelson-Williams C, Hansson JH, Schambelan M, Gill JRJ, Ulick S, Milora RV, Findling JW, et al.: Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell 1994, 79:407-414.
15. Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, Canessa C, Iwasaki T, Rossier B, Lifton RP: Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nat Genet 1995, 11:76-82.
16. Baker EH, Dong YB, Sagnella GA, Rothwell M, Onipinla AK, Markandu ND, Cappuccio FP, Cook DG, Persu A, Corvol P, Jeunemaitre X, Carter ND, MacGregor GA: Association of hypertension with T594M mutation in beta subunit of epithelial sodium channels in black people resident in London. Lancet 1998, 351:1388-1392.
17. Ambrosius WT, Bloem LJ, Zhou L, Rebhun JF, Snyder PM, Wagner MA, Guo C, Pratt JH: Genetic variants in the epithelial sodium channel in relation to aldosterone and potassium excretion and risk for hypertension. Hypertension 1999, 34:631-637.
18. Rayner BL, Owen EP, King JA, Soule SG, Vreede H, Opie LH, Marais D, Davidson JS: A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension. J Hypertens 2003, 21:921-926.
19. Wong ZY, Stebbing M, Ellis JA, Lamantia A, Harrap SB: Genetic linkage of beta and gamma subunits of epithelial sodium channel to systolic blood pressure. Lancet 1999, 353:1222-1225.
20. The alpha-tocopherol, beta-carotene lung cancer prevention study: design, methods, participant characteristics, and compliance. The ATBC Cancer Prevention Study Group. Ann Epidemiol 1994, 4:1-10.
21. Hiltunen TP, Hannila-Handelberg T, Petajaniemi N, Kantola I, Tikkanen I, Virtamo J, Gautschi I, Schild L, Kontula K: Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit. J Hypertens 2002, 20:2383-2390.
22. Helin KH, Tikkanen I, von Knorring JE, Lepantalo MJ, Liewendahl BK, Laasonen LS, Fyhrquist FY, Tikkanen T: Screening for renovascular hypertension in a population with relatively low prevalence. J Hypertens 1998, 16:1523-1529.
23. http://compbio.ornl.gov/grailexp/.
24. Persu A, Barbry P, Bassilana F, Houot AM, Mengual R, Lazdunski M, Corvol P, Jeunemaitre X: Genetic analysis of the beta subunit of the epithelial Na+ channel in essential hypertension. Hypertension 1998, 32:129-137.
25. Melander O, Orho M, Fagerudd J, Bengtsson K, Groop PH, Mattiasson I, Groop L, Hulthen UL: Mutations and variants of the epithelial sodium channel gene in Liddle's syndrome and primary hypertension. Hypertension 1998, 31:1118-1124.
26. Snyder PM: The epithelial Na+ channel: cell surface insertion and retrieval in Na+ homeostasis and hypertension. Endocr Rev 2002, 23:258-275.
27. Hummler E: Epithelial sodium channel, salt intake, and hypertension. Curr Hypertens Rep 2003, 5:11-18.
28. Persu A, Coscoy S, Houot AM, Corvol P, Barbry P, Jeunemaitre X: Polymorphisms of the gamma subunit of the epithelial Na+ channel in essential hypertension. J Hypertens 1999, 17:639-645.
29. Bubien JK, Watson B, Khan MA, Langloh AL, Fuller CM, Berdiev B, Tousson A, Benos DJ: Expression and regulation of normal and polymorphic epithelial sodium channel by human lymphocytes. J Biol Chem 2001, 276:8557-8566.
30. Botero-Velez M, Curtis JJ, Warnock DG: Brief report: Liddle's syndrome revisited - a disorder of sodium reabsorption in the distal tubule. N Engl J Med 1994, 330:178-181.
31. Findling JW, Raff H, Hansson JH, Lifton RP: Liddle's syndrome: prospective genetic screening and suppressed aldosterone secretion in an extended kindred. J Clin Endocrinol Metab 1997, 82:1071-1074.
32. Jeunemaitre X, Bassilana F, Persu A, Dumont C, Champigny G, Lazdunski M, Corvol P, Barbry P: Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome. J Hypertens 1997, 15:1091-1100.
33. Hansson JH, Schild L, Lu Y, Wilson TA, Gautschi I, Shimkets R, Nelson-Williams C, Rossier BC, Lifton RP: A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. Proc Natl Acad Sci U S A 1995, 92:11495-11499.
34. Snyder PM, Price MP, McDonald FJ, Adams CM, Volk KA, Zeiher BG, Stokes JB, Welsh MJ: Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel. Cell 1995, 83:969-978.
35. Su YR, Rutkowski MP, Klanke CA, Wu X, Cui Y, Pun RY, Carter V, Reif M, Menon AG: A novel variant of the beta-subunit of the amiloride-sensitive sodium channel in African Americans. J Am Soc Nephrol 1996, 7:2543-2549.
36. Dong YB, Zhu HD, Baker EH, Sagnella GA, MacGregor GA, Carter ND, Wicks PD, Cook DG, Cappuccio FP: T594M and G442V polymorphisms of the sodium channel beta subunit and hypertension in a black population. J Hum Hypertens 2001, 15:425-430.
37. Cui Y, Su YR, Rutkowski M, Reif M, Menon AG, Pun RY: Loss of protein kinase C inhibition in the beta-T594M variant of the amiloride-sensitive Na+ channel. Proc Natl Acad Sci U S A 1997, 94:9962-9966.
38. Baker EH, Duggal A, Dong Y, Ireson NJ, Wood M, Markandu ND, MacGregor GA: Amiloride, a specific drug for hypertension in black people with T594M variant? Hypertension 2002, 40:13-17.