HSD11B2 CA-repeat and sodium balance

Hypertension Research

Volumn 36, Issue 7, 2013, Pages 614-619

  Mune, Tomoatsu ^a   Morita, Hiroyuki ^b   Takada, Nobuki ^c   Yamamoto, Yoritsuna ^c   Isomura, Yukinori ^b   Suwa, Tetsuya ^b   Takeda, Jun ^b   White, Perrin C ^d   Kaku, Kohei ^a  

^a KAWASAKI MEDICAL SCHOOL   (Japan)

^b GIFU UNIVERSITY   (Japan)

^c Japan Self Defense Force Gifu Hospital   (Japan)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

cortisol; human genetics; hypertension; metabolism; sodium appetite

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE 2;

ADULT; ALLELE; ARTICLE; CA REPEAT; CONTROLLED STUDY; CORRELATION ANALYSIS; DNA STRUCTURE; ENZYME ACTIVITY; GENE FREQUENCY; GENE LOCUS; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HYDROCORTISONE URINE LEVEL; HYPERTENSION; INTRON; JAPANESE; MAJOR CLINICAL STUDY; MALE; POTASSIUM EXCRETION; SALT INTAKE; SODIUM BALANCE; SODIUM EXCRETION; SODIUM URINE LEVEL;

11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2; ADULT; AGED; DINUCLEOTIDE REPEATS; GENOTYPE; HUMANS; HYDROCORTISONE; KIDNEY; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; SODIUM;

EID: 84881411906     PISSN: 09169636     EISSN: 13484214     Source Type: Journal    
DOI: 10.1038/hr.2013.13     Document Type: Article

References (33)

1. Funder JW, Pearce PT, Smith R, Smith AI. Mineralocorticoid action: target tissue specificity is enzyme, not receptor, mediated. Science 1988; 242: 583-585. (Pubitemid 18263202)
2. Mune T, Rogerson FM, Nikkilä H, Agarwal AK, White PC. Human hypertension caused by mutations in the kidney isozyme of 11b-hydroxysteroid dehydrogenase. Nat Genet 1995; 10: 394-399.
3. White PC, Mune T, Agarwal AK. 11beta-hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. Endocr Rev 1997; 18: 135-156. (Pubitemid 27076458)
4. Stewart PM, Wallace AM, Valentino R, Burt D, Schackleton CHL, Edwards CRW. Mineralocorticoid activity of liquorice: 11b-hydroxysteroid dehydrogenase deficiency comes of age. Lancet 1987; 2: 821-824.
5. Bailey MA, Craigie E, Livingstone DEW, Kotelevtsev YV, Al-Dujaili EAS, Kenyon CJ, Mullins JJ. Hsd11b2 haploinsufficiency in mice causes salt sensitivity of blood pressure. Hypertension 2011; 57: 515-520.
6. Craigie E, Evans LC, Mullins JJ, Bailey MA. Failure to downregulate the epithelial sodium channel causes salt sensitivity in hsd11b2 heterozygote mice. Hypertension 2012; 60: 684-690.
7. Tang JI, Kenyon CJ, Seckl JR, Nyirenda MJ. Prenatal overexposure to glucocorticoids programs renal 11b-hydroxysteroid dehydrogenase type 2 expression and salt-sensitive hypertension in the rat. J Hypertens 2011; 29: 282-289.
8. Lauterburg M, Escher G, Dick B, Ackermann D, Frey FJ. Uninephrectomy reduces 11b-hydroxysteroid dehydrogenase type 1 and type 2 concomitantly with an increase in blood pressure in rats. J Endocrinol 2012; 214: 373-380.
9. Watson B, Bergman SM, Myracle A, Callen DF, Acton RT, Warnock DG. Genetic association of flanking microsatellites with essential hypertension in blacks. Hypertension 1996; 28: 478-482.
10. Smolenicka Z, Bach E, Schaer A, Liechti-Gallati S, Frey BM, Frey FJ, Ferrari P. A new polymorphic restriction site in the human 11b-hydroxysteroid dehydrogenase gene. J Clin Endocrinol Metab 1998; 83: 1814-1817. (Pubitemid 28501065)
11. Lovati E, Ferrari P, Dick B, Jostarndt K, Frey BM, Frey FJ, Schorr U, Sharma AM. Molecular basis of human salt sensitivity: The role of the 11b-hydroxysteroid dehydrogenase type 2. J Clin Endocrinol Metab 1999; 84: 3745-3749. (Pubitemid 30645235)
12. Agarwal AK, Giacchetti G, Lavery G, Nikkila H, Palermo M, Ricketts M, McTernan C, Bianchi G, Manunta P, Strazzullo P, Mantero F, White PC, Stewart PM. CA-repeat polymorphism in intron 1 of HSD11B2: effects on gene expression and salt sensitivity. Hypertension 2000; 36: 187-194. (Pubitemid 30626987)
13. Taylor AC. Titration of heparinase for removal of the PCR-inhibitory effect of heparin in DNA samples. Mol Ecol 1997; 6: 383-385. (Pubitemid 27176813)
14. Brand E, Kato N, Chatelain N, Krozowski ZS, Jeunemaitre X, Corvol P, Plouin PF, Cambien F, Pascoe L, Soubrier F. Structural analysis and evaluation of the 11b-hydroxysteroid dehydrogenase type 2 (11b-HSD2) gene in human essential hypertension. J Hypertens 1998; 16: 1627-1633. (Pubitemid 28515489)
15. Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R, Chakravarti A. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet 1999; 22: 239-247. (Pubitemid 29297249)
16. Nunez S, Rogerson FM, Mune T, Igarashi Y, Nakagawa Y, Phillipov G, Moudgil A, Travis LB, Palermo M, Schackleton C, White PC. Mutants of 11b-hydroxysteroid dehydrogenase (11-HSD2) with partial activity. Improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. Hypertension 1999; 34: 638-642. (Pubitemid 29496446)
17. Li A, Tedde R, Krozowski ZS, Pala A, Li KXZ, Schackleton CHL, Mantero F, Palermo M, Stewart PM. Molecular basis for hypertension in the 'type II variant' of apparent mineralocorticoid excess. Am J Hum Genet 1998; 63: 370-379. (Pubitemid 30418618)
18. Morita H, Isomura Y, Mune T, Daido H, Takami R, Yamakita N, Ishizuka T, Takeda N, Yasuda K, Gomez-Sanchez CE. Plasma cortisol and cortisone concentrations in normal subjects and patients with adrenocortical disorders. Metabolism 2004; 53: 89-94. (Pubitemid 38071942)
19. Isomura Y, Mune T, Morita H, Suwa T, Takada N, Yamamoto Y, Takeda J. Physiological roles of 11b-hydroxysteroid dehydrogenase type 2 in kidney. Metabolism 2006; 55: 1352-1357. (Pubitemid 44353553)
20. Palermo M, Schackleton CH, Mantero F, Stewart PM. Urinary free cortisone and the assessment of 11b-hydroxysteroid dehydrogenase activity in man. Clin Endocrinol 1996; 45: 605-611. (Pubitemid 26411362)
21. Kamide K, Kokubo Y, Hanada H, Nagura J, Yang J, Takiuchi S, Tanaka C, Banno M, Miwa Y, Yoshii M, Matayoshi T, Yasuda H, Horio T, Okayama A, Tomoike H, Kawano Y, Miyata T. Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations. Hypertens Res 2006; 29: 243-252. (Pubitemid 43853270)
22. White PC, Agarwal AK, Li A, Nikkila H, Pratt JH, Caufield M, Clark A, McTernan C, Stewart PM. Possible association but no linkage of the HSD11B2 gene encoding the kidney isozyme of 11b-hydroxysteroid dehydrogenase to hypertension in Black people. Clin Endocrinol 2001; 55: 249-252. (Pubitemid 32868591)
23. Geerling JC, Engeland WC, Kawata M, Loewy AD. Aldosterone target neurons in the nucleus tractus solitarius drive sodium appetite. J Neurosci 2006; 26: 411-417. (Pubitemid 43237104)
24. Geerling JC, Loewy AD. Aldosterone in the brain. Am J Physiol Renal Physiol 2009; 297: F559-F576.
25. Barba G, Cappuccio FP, Russo L, Stinga F, Iacone R, Strazzullo P. Renal function and blood pressure response to dietary salt restriction in normotensive men. Hypertension 1996; 27: 1160-1164. (Pubitemid 26140674)
26. Walker BR, Stewart PM, Schackleton C, Padfield PL, Edwards C. Deficient inactivation of cortisol by 11b-hydroxysteroid dehydrogenase in essential hypertension. Clin Endocrinol 1993; 39: 221-227. (Pubitemid 23224295)
27. Soro A, Ingram MC, Tonolo G, Glorioso N, Fraser R. Evidence of coexisting changes in 11b-hydroxysteroid dehydrogenase and 5b-reductase activity in subjects with untreated essential hypertension. Hypertension 1995; 25: 67-70.
28. Walker BR, Phillips DIW, Noon JP, Panareli M, Andrew R, Edwards HV, Holton DW, Seckl JR, Webb DJ, Watt GCM. Increased glucocorticoid activity in men with cardiovascular risk factors. Hypertension 1998; 31: 891-895. (Pubitemid 28185563)
29. Kerstens MN, van der Kleij FGH, Boonstra AH, Sluiter WJ, Koerts J, Navis G, Dullaart RPF. Salt loading affects cortisol metabolism in normotensive subjects: relationships with salt sensitivity. J Clin Endocrinol Metab 2003; 88: 4180-4185. (Pubitemid 37153718)
30. Melander O, Frandsen E, Groop L, Hulthen UL. No evidence of a relation between 11b-hydroxysteroid dehydrogenase type 2 activity and salt sensitivity. Am J Hypertens 2003; 16: 729-733. (Pubitemid 37175987)
31. Isaji M, Mune T, Takada N, Yamamoto Y, Suwa T, Morita H, Takeda J, White PC. Correlation between left ventricular mass and urinary sodium excretion in specific genotypes of CYP11B2. J Hypertens 2005; 23: 1149-1157. (Pubitemid 40862718)
32. Weinberger MH. Salt sensitivity of blood pressure in humans. Hypertension 1996; 27: 481-490. (Pubitemid 26084617)
33. Pratt JH, Jones J, Miller JZ, Wagner M, Fineberg NS. Racial differences in aldosterone excretion and plasma aldosterone concentrations in children. N Engl J Med 1989; 321: 1152-1157. (Pubitemid 19255810)