Genetic determination of human essential hypertension

Tohoku Journal of Experimental Medicine

Volumn 192, Issue 1, 2000, Pages 19-33

  Matsubara, Mitsunobu ^a,b  

^a TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; CARRIER PROTEIN; HYDROCORTISONE; KALLIKREIN; KININ; SODIUM;

BIOSYNTHESIS; GENETICS; HUMAN; HYPERTENSION; KIDNEY; METABOLISM; PHYSIOLOGY; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; REVIEW;

ALDOSTERONE; CARRIER PROTEINS; HUMANS; HYDROCORTISONE; HYPERTENSION; KALLIKREINS; KIDNEY; KININS; RENIN-ANGIOTENSIN SYSTEM; SODIUM;

EID: 0034268317     PISSN: 00408727     EISSN: None     Source Type: Journal    
DOI: 10.1620/tjem.192.19     Document Type: Review

References (67)

1. - cotransporter via 20-HETE and PKC in medullary thick ascending limb. Am. J. Physiol., 274, C1047-C1056.
2. Baker, E.H., Dong, Y.B., Sagnella, G.A., Rothwell, M., Onipinila, A.K., Markandu, N.D., Cappucio, F.P., Cook, D.G., Persu, A., Corvol, P., Jeunemaitre, X., Carter, N.D. & MacGregor, G.A. (1998) Association of hypertension with T594M mutation in β subunit of epithelial sodium channels in black people resident in London. Lancet, 351, 1388-1392.
3. Berge, K.E. & Berg, K. (1993) No effect of Taq I polymorphism at the human renal kallikrein (KLK1) locus on normal blood pressure level or variability. Clin. Genet., 44, 196-202.
4. Berge, K.E., Bakken, A., Bohn, M., Erikssen, J. & Berg, K. (1997) Analysis of mutations in the human renal kallikrein (hKLK1) gene and their possible relevence to blood pressure regulation and risk of myocardial infarction. Clin. Genet, 52, 86-95.
5. Berry, T.D., Hasstedt, S.J., Hunt, S.C., Wu, L.L., Smith, J.B., Ash, K.O., Kuida, H. & Williams, R.R. (1989) A gene for high urinary kallikrein may protect against hypertension in Utah kindreds. Hypertension, 13, 3-8.
6. Bonnardeaux, A., Davies, E., Jeunemaitre, X., Fery, I., Charru, A., Clauser, E., Tret, L., Cambien, F., Corvol, P. & Soubrier, F. (1994) Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension. Hypertension, 24, 63-69.
7. Brand, E., Chatelain, N., Mulatero, P., Fery, I., Curnow, K., Jeunemaitre, S., Corvol, P., Pascoe, L. & Soubrier, F. (1998a) Structural analysis and evaluation of the aldosterone synthase gene in hypertension. Hypertension, 32, 198-204.
8. Brand, E., Koto, N., Chatelain, N., Krozowski, Z.S., Jeunemaitre, X., Corvol, P., Plouin, P.-F., Cambien, F., Pascoe, L. & Soubrier, F. (1998b) Structural analysis and evaluation of the 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2) gene in human essential hypertension. J. Hypertens., 16, 1627-1633.
9. Brand, E., Schorr, U., Ringel, J., Beige, J., Distler, A. & Sharma, A.M. (1999) Aldosterone synthase (CYP11B2) C-344T polymorphism in Caucasians from Berlin salt-sensitive trial (BeSST). J. Hypertens., 17, 1563-1567.
10. Busjahn, A., Aydin, A., von Treuenfels, N., Faulhber, H.-D., Gohlke, H.-R., Knoblauch, H., Schuster, H. & Luft, F.C. (1999) Linkage but lack of association for blood pressure and the α-adducin locus in normotensive twins. J. Hypertens., 17, 1437-1441.
11. Casari, G., Barlassina, C., Cusi, D., Zagato, L., Muirhead, R., Righetti, M., Nembri, P., Amar, K., Gatti, M., Macciardi, F., Binelli, G. & Bianchi, G. (1995) Association of the alpha-adducin locus with essential hypertension. Hypertension, 25, 320-326.
12. Corvol, P., Persu, A., Gimenez-Roqueplo, A.-P. & Jeunemaitre, X. (1999) Seven lessons from two candidate genes in human essential hypertension. Angiotensinogen and epithelial sodium channel. Hypertension, 33, 1324-1331.
13. Curnow, K.M., Slutsker, L., Vitek, J., Cole, T., Speiser, P.W., New, M.I., White, P.C. & Pascoe, L. (1993) Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc. Natl. Acad. Sci. USA, 90, 4552-4556.
14. Cusi, D., Barlassina, C., Azzani, T., Casari, G., Citterio, L., Devot, M., Glorioso, N., Lanzani, C., Manunta, P., Righetti, M., Rivera, R., Stella, P., Troffa, C., Zagato, L. & Bianchi, G. (1997) Polymorphisms of α-adducin and salt sensitivity in patients with essential hypertension. Lancet, 349, 1353-1357.
15. Davies, E., Holloway, H., Ingram, M.C., Inglis, G.C., Friel, E.C., Morrison, C., Anderson, N.H., Fraser, R. & Connell, J.M.C. (1999) Aldosterone excretion rate and blood pressure in essential hypertension are related to polymorphic differences in the aldosterone synthase gene CYP11B2. Hypertension, 33, 703-707.
16. Erdmann, J., Riedel, K., Rohde, K., Folgmann, I., Wienker, T., Fleck, E. & Regitz-Zagrosek, V. (1999) Characterization of polymorphisms in the promoter of the human angiotensin II subtype 1 (AT1) receptor gene. Ann. Hum. Gen., 63, 369-374.
17. Fardella, C.E., Rodriguez, H., Montero, J., Zhang, G., Vignolo, P., Rojas, A., Villarroel, L. & Miller, W. (1996) Genetic variation in p450c11AS in Chilean patients with low renin hypertension. J. Clin. Endocrinol. Metab., 81, 4247-4351.
18. Frossard, P.M., Lestringant, G.G., Elshahat, Y.I., John, S. & Obineche, E.N. (1998) An Mbo I two-allele polymorphism may implicate the human renin gene in primary hypertension. Hypertens. Res., 21, 221-225.
19. Frossard, P.M., Lestringant, G., Malloy, J.M. & Kane, J.P. (1999) Human renin gene Bgl I dimorphism associated with hypertension in two independent populations. Clin. Genet., 56, 428-433.
20. Ganguly, A. (1998) Primary aldosteronism. N. Engl. J. Med., 339, 1828-1834.
21. Giner, V., Poch, E., Bragulat, E., Oriola, J., Gonzalez, D., Coca, A. & de la Sierra, A. (2000) Renin-angiotensin system genetic polymorphisms and salt sensitivity in essential hy0pertension. Hypertension, 35, 512-517.
22. Hanis, C.L., Sing, C.F., Clarke, W.R. & Schrott, H.G. (1983) Multivariate model for human genetic analysis: aggregation, coaggregation, and tracking of systolic blood pressure and weight. Am. J. Hum. Genet., 35, 1196-1210.
23. Harris, P.J. & Young, J.A. (1997) Dose-dependent stimulation and inhibition of proximal tubular sodium reabsorption by angiotensin II in the rat kidney. Pflügers. Arch., 367, 295-297.
24. Helmberg, A., Ausserer, B. & Kofler, R. (1992) Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 gene causes congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency. J. Clin. Endocrinol. Metab., 75, 1278-1281.
25. Higaki, J., Baba, S., Katsuya, T., Sato, N., Ishikawa, K., Mannami, T., Ogara, J. & Ogihara, T. (2000) Deletion allel of angiotensin-converting enzyme gene increases risk of essential hypertension in Japanese men. The Suita study. Circulation, 101, 2060-2065.
26. Hilbert, P., Lindpaintner, K., Bechmann, J.S., Serikawa, T., Soubrier, F., Dubay, C., Carwright, P., De Gouyon, B., Lulier, C., Takahashi, S., Vincent, M., Ganten, D., Georges, M. & Lathlop, G.M. (1991) Chromosomal mapping of 2 genetic loci associated with blood-pressure regulation in hereditary hypertensive rats. Nature, 353, 521-529.
27. Hughes, C.A. & Bennett, V. (1995) Adducin: a physical model with implication for function in assembly of spectrin-actin complexes. J. Biol. Chem., 270, 18990-18996.
28. Inoue, I., Nakajima, T., Williams, C., Quackenbush, J., Puryear, R., Powers, M., Cheng, T., Ludwig, E.H., Sharma, A.M., Hara, A., Corvol, P. & Lalouel, J.-M. (1997) A nucleotide substitution in the promoter of human angiotensinogen is associated with essential hypertension and affects basal transcription in vitro. J. Clin. Invest., 99, 1786-1797.
29. Ishikawa, K., Imai, Y, Katsuya, T., Ohkubo, T., Tsuji, I., Nagai, K., Takami, S., Satoh, H., Higaki, J. & Ogihara, T. (2000) Human G-protein β3 subunit variant is associated with serum potassium and total cholesterol levels but not with blood pressure. Am. J. Hypertens., 13, 140-145.
30. Jacob, H.J., Lindpaintner, K., Lincoln, S.E., Kusumi, K., Bunker, R.K., Mao, Y.P., Ganten, D., Dzau, V.J. & Lander, E.S. (1991) Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat. Cell, 67, 213-224.
31. Jeunemaitre, X., Soubrier, F., Kotelevtsev, Y.V., Lofton, R.P., Williams, C.S., Charru, A, Hunt, S.C., Hopkins, P.N., Williams, R.R., Lalouel, J.-M. & Corvol, P. (1992a) Molecular basis of human hypertension. Role of angiotensinogen. Cell, 71, 169-180.
32. Jeunemaitre, X., Lifton, R.P., Hunt, S.C., Williams, R.R. & Lalouel, J.M. (1992b) Absence of linkage between the angiotensin converting enzyme locus and human essential hypertension. Nat. Genet., 1, 72-75.
33. Jeunemaitre, X., Inoue I., Williams, C., Charru, A., Tichet, J., Powers, M., Sharma, A.M., Gimenez-Roqueplo, A.-P., Hara, A., Corvol, P. & Lalouel, J.-M. (1997) Haplotypes of angiotensinogen in essential hypertension. Am. J. Hum. Genet., 60, 1448-1460.
34. Komiya, I., Yamada, T., Takara, M., Asawa, T., Shimabukuro, M., Nishimori, T. & Takasu, N. (2000) Lys173Arg and -334T/C variants of CYP11B2 in Japanese patients with low-renin hypertension. Hypertension, 35, 699-703.
35. Kunz, R., Kreutz, R., Beige, J., Distler, A. & Sharma, A.M. (1997) Association between the angiotensinogen 235T-variant and essential hypertension in whites. A systematic review and methodological appraisal. Hypertension, 30, 1331-1337.
36. Lieberthol, W., Arbeit, L., Oza, N.B., Bernard, D.B. & Levinsky, N.G. (1983) Reduced ratio of active-to-total urinary kallikrein in essential hypertension. Hypertension, 5, 603-609.
37. Lifton, R.P., Dluphy, R.G., Powers, M., Rich, G.M., Cook, S., Ulick, S. & Lalouel, J.-M. (1992) A chimeric 11β-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature, 355, 262-265.
38. Lifton, R.P. (1995) Genetic determinants of human hypertension. Proc. Natl. Acad. Sci. USA, 92, 8545-8551.
39. Margolium, H.S., Geller, R., Pisano, J.J. & Sjoerdsrna, A. (1971) Altered urinary kallikrein excretion in human hypertension. Lancet, 2, 1063-1065.
40. Matsubara, M., Ohkubo, T., Michimata, M., Hozawa, A., Ishikawa, K., Katsuya, T., Nagai, K., Tsuji, I., Higaki, J., Araki, T., Satoh, H., Hisamichi, S., Ito, S., Ogihara, T. & Imai, Y. (2000) Japanese individuals do not harbor the T594M mutation but do have the P592S mutation in the C-terminus of the beta-subunit of the epithelial sodium channel: the Ohasama Study. J. Hypertens., 18, 1-6.
41. Meizi, M.I., Bertorello, A., Fukuda, Y., Muldin, I., Sereni, F. & Aperia, A. (1989) Na, K-ATPase activity in renal tubule cells from Milan Hypertensive rats. Am. J. Hypertension, 2, 563-566.
42. Mitsuuchi, Y., Kawamoto, T., Miyahara, K., Ulick, S., Morton, D.H., Naili, Y., Kuribayashi, I., Toda, K., Hara, T., Orii, T., Yasuda, K., Miura, K., Yamamoto, Y., Imura, H. & Shizuta, Y. (1993) Congenitally defective aldosterone biosynthesis in human: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficiency patients. Biochem. Biophys. Res. Commun., 190, 864-869.
43. Morineau, G., Marc, J.-M., Boudi, A., Galons, H., Gourmelen, M., Corvol, P., Pascoe, L. & Fiet, J. (1999) Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11βHSD2 causing apparent mineralocorticoid excess. Hypertension, 34, 435-441.
44. Mulatero, P., Schiavone, D., Fallo, F., Rabbia, F., Pilon, C., Chiandussi, L., Pascoe, L. & Veglio, F. (2000) CYP11B2 gene polymorphisms in idiopathic hyperaldosteronism. Hypertension, 35, 694-698.
45. Mune, T., Rogerson, F.M., Nikkila, H., Agarwal, A.K. & White, P.C. (1995) Human hyertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase. Nat. Genet., 10, 394-399.
46. Naftilan, A.J., Williams, R., Burt, D., Paul, M., Pratt, R.P., Hobart, P., Chirgwin, J. & Dzau, V.J. (1989) A lack of genetic linkage of renin gene restriction fragment length polymorphisms with human hypertension. Hypertension, 14, 614-618.
47. Nunez, B.S., Rogerson, F.M., Mune, T., Igarashi, Y., Nakagawa, Y., Philipov, G., Moudgil, A., Travis, L.B., Palermo, M., Shackleton, C. & White, P.C. (1999) Mutants of 11β-hydroxysteroid dehydrogenase (11-HSD2) with partial activity. Hypertension, 34, 638-642.
48. O'Donell, C.J., Lindpaintner, K., Larson, M.G., Rao, V.S., Ordovas, J.M., Schaefer, E.J., Myers, R.H. & Levy, D. (1998) Evidence for association and genetic linkage of the angiotensin-converting enzyme locus with hypertension and blood pressure in men but not women in the Framingham Heart. Circulation, 97, 1766-1772.
49. Orlov, S.N., Adragna, N.C., Adarichev, V.A. & Hamet, P. (1999) Genetic and biochemical determinants of abnormal monovalent ion transport in primary hypertension. Am. J. Physiol., 276, C511-C536.
50. Paolo, F., Lovati, E. & Frey, F.J. (2000) The role of the 11β-hydroxysteroid dehydrogenase type 2 in human hypertension. J. Hypertens., 18, 241-248.
51. +-pump activity in the kidney cortex of the Milan Hypertensive rat strain. FEBS Lett., 290, 200-204.
52. Pascoe, L., Curnow, K.M., Slutsker, L., Rosler, A. & White, P.C. (1992) Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. Proc. Natl. Acad. Sci. USA, 89, 4996-5000.
53. + channel in essential hypertension. Hypertension, 32, 129-137.
54. + channel in essential hypertension. J. Hypertens., 17, 639-645.
55. Poirier, O., Georges, J.-L., Richard, S., Arveiler, D., Ruidavets, J.-B., Luc, G., Evans, A., Cambien, F. & Tiret, L. (1998) New polymorphisms of the angiotensin II type 1 receptor gene and their associations with myocardial infarction and blood pressure: the ECTIM study. J. Hypertens., 16, 1443-1447.
56. Pojoga, L., Gautier, S., Blanc, H., Guyene, T.-T., Poirier, O., Cambien, F. & Benetos, A. (1998) Genetic determination of plasma aldosterone levels in essential hypertension. Am. J. Hypertens., 11, 856-860.
57. Rigat, B., Hubert, C., Alhenc-Gelas, F., Cambien, F., Corvol, P. & Soubrier, F. (1990) An insertion/deletion polymorphisms in the angiotensin I-converting enzyme gene accounting for half the variance of serum levels. J. Clin. Invest., 86, 1343-1346.
58. Rolfs, A., Weber-Rolfs, I., Regitz-Zagrosek, V., Kallisch, H., Riedel, K. & Fleck, E. (1994) Genetic polymorphisms of the angiotensin II type 1 (AT1) receptor gene. Eur. Heart J., 15, 108-112.
59. Shimkets, R.A., Warnock, D.G., Bositis, C.M., Nelson-Williams, C., Hansson, J.H., Schambelan, M., Gill, J.R, Jr., Ulick, S., Milora, R.V., Findling, J.W., Canessa, C.M., Rossier, B.C. & Lifton, R.P. (1994) Liddle's syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel. Cell, 79, 407-414.
60. Siffert, W., Rosskopf, D., Siffert, G, Busch, S., Moritz, A., Erbel, R., Sharma, A.M., Ritz, E., Wichmann, H.E., Jacobs, K.H. & Horsthemke, B. (1998) Association of a human G-protein beta3 subunit variant with hypertension. Nat. Genet., 18, 45-48.
61. Staessen, J.A., Kuznetsova, T., Wang, J.G., Emelianov, D., Vlietick, R. & Fagard, R. (1999) M235T angiotensinogen gene polymorphism and cardiovascular renal risk. J. Hypertens., 17, 9-17.
62. Tripodi, G., Valtorta, F., Torielli, L., Chieregatti, E., Salardi, S., Trusolino, L., Menegon, A., Ferrari, P., Marchisio, P.C. & Bianchi, G. (1996) Hypertension-associated point mutations in the alpha and beta subunits affect actin cytoskeleton and ion transport. J. Clin. Inverst., 97, 2815-2822.
63. Watson, B., Bergman, S.M., Myracle, A., Callen, D.F., Acton, R.T. & Warnock, D.G. (1996) Genetic association of flanking microsatellites with essential hypertension in blacks. Hypertension, 28, 478-482.
64. White, P.C., Dupont, J., New, M.I., Leiberman, E., Hochberg, Z. & Rosler, A. (1991) A mutation in CYP11B1 (Arg-448-His) associated with steroid 11βhydroxylase deficiency in Jew of Moroccan origin. J. Clin. Invest., 87, 1664-1667.
65. While, P.C. & Slutsker, L. (1995) Haplotype analysis of CYP11B2. Endocr. Res, 21, 437-442.
66. Wilson, R.C., Dave-Sharma, S., Wei, J.-Q., Obeyesekere, V.R., Li, K., Ferrairi, P., Krozowski, Z.S., Shackleton, C.H.L., Bradlow, L., Wiens, T. & New, M.I. (1998) A genetic defect resulting in mild low-renin hypertension. Proc. Natl. Acad. Sci. USA, 95, 10200-10205.
67. Zhang, X., Erdmann, J., Regitz-Zagrosek, V., Kurzinger, S., Hense, H.-W. & Schunkert, H. (2000) Evaluation of three polymorphisms in the promoter region of the angiotensin II type I receptor gene. J. Hypertens., 18, 267-272.