Genetic association of 11β-hydroxysteroid dehydrogenase type 2 (HSD11B2) flanking microsatellites with essential hypertension in blacks

Hypertension

Volumn 28, Issue 3, 1996, Pages 478-482

  Watson Jr , Bracie ^a,d   Bergman, Suzanne M ^a   Myracle, Angela ^a   Callen, David F ^b   Acton, Ronald T ^c   Warnock, David G ^a  

^a UNIVERSITY OF ALABAMA SCHOOL OF MEDICINE   (United States)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^d University of Alabama at Birmingham   (United States)

Author keywords

aldosterone; blacks; genetics; hydrocortisone; hydroxysteroid dehydrogenase; hypertension, essential

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; ALDOSTERONE; CORTISONE; HYDROCORTISONE; ISOENZYME; MICROSATELLITE DNA; MINERALOCORTICOID RECEPTOR;

ADULT; AGED; ALLELE; ARTICLE; CHROMOSOME 16Q; CONTROLLED STUDY; ENZYME ACTIVITY; ESSENTIAL HYPERTENSION; FEMALE; GENE MUTATION; GENETIC LINKAGE; HUMAN; KIDNEY FAILURE; MAJOR CLINICAL STUDY; MALE; NEGRO; PRIORITY JOURNAL; RECEPTOR AFFINITY;

EID: 0347478279     PISSN: 0194911X     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.HYP.28.3.478     Document Type: Article

References (27)

1. Rostand SG, Kirk K, Rutsky EA, Pate BA. Racial differences in the incidence of treatment for end-stage renal disease. N Engl J Med. 1982;306:1276-1279.
2. Cooper RS, Borke JL. Intracellular ions and hypertension in blacks. In: Fray JCS, Douglas J, eds. Pathophysiology of Hypertension in Blacks. New York, NY: Oxford University Press; 1993:181-213.
3. Cooper R, Rotimi C. Hypertension in populations of West African origin: is there a genetic predisposition? J Hypertens. 1994;12: 215-227.
4. Luft FC, Grim CE, Higgins JT, Weinberger MH. Differences in response to sodium administration in normotensive white and black subjects. J Clin Invest. 1977;60:129-138.
5. Schafer JA. 1993 Homer W. Smith Award. Salt and water homeostasis: is it just a matter of good bookkeeping? J Am Soc Nephrol. 1994;4:1929-1950. Review.
6. Funder JW, Pearce PT, Smith R, Smith AI. Mineralocorticoid action: target tissue specificity is enzyme, not receptor, mediated. Science. 1988;237:268-275.
7. Edwards CR, Burt D, McIntyre MA, DeKloet ER, Stewart PM, Brett L, Sutanto WS, Monder C. Localisation of 11beta-hydroxysteroid dehydrogenase-tissue specific protector of the mineralocorticoid receptor. Lancet. 1988;2:986-989.
8. Naray-Fejes-Toth A, Watlington CO, Fejes-Toth G. 11β-hydroxysteroid dehydrogenase activity in the renal target cells of aldosterone. Endocrinology. 1991;129:17-21.
9. Rusvai E, Naray-Fejes-Toth A. A new isoform of 11 beta-hydroxysteroid dehydrogenase in aldosterone target cells. J Biol Chem. 1993;268:10717-10720.
10. Brown RW, Chapman KE, Edwards CRW, Seckl JR. Human placental 11 beta-hydroxysteroid dehydrogenase: evidence for and partial purification of a distinct NAD+-dependent isoform. Endocrinology. 1993;132:2614-2621.
11. Naray-Fejes-Toth A. Expression cloning of the aldosterone target cell-specific 11 beta-hydroxysteroid dehydrogenase from rabbit collecting duct cells. Endocrinology. 1995;136:2579-2586.
12. Ulick S, Levine LS, Gunczler P, Giovanni Z, Ramirez LC, Rauh W, Rosler A, Bradlow HL, New ML. A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol. J Clin Endocrinol. 1979;49:757-764.
13. Stewart PM, Whorwood CB, Walker BR. Steroid hormones and hypertension: the cortisol-cortisone shuttle. Steroids. 1993;58: 614-620.
14. Krozowski ZK, Funder JW. Renal mineralocorticoid receptors and hippocampal cortisterone binding series have identical intrinsic steroid specificity. Proc Natl Acad Sci U S A. 1983;80:6056-6060.
15. Wilson RC, Krozowski ZS, Li K, Obeyesekere VR, Razzaghy-Azar M, Harbison MD, Wei JQ, Schackleton CHL, Funder JW, New MI. A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1995;80:2263-2266.
16. Mune T, Rogerson FM, Nikkila H, Agarwal AK, White PC. Human hypertension caused by mutations in the kidney isozyme of 11beta-hydroxysteroid dehydrogenase. Nat Genet. 1995;10:394-399.
17. Woods JW, Liddle GW, Stant EG, Michelakis AM, Brill AB. Effect of an adrenal inhibitor in hypertensive patients with suppressed renin. Arch Intern Med. 1969;123:366-370.
18. Bergman S, Key B, Warnock D, Rostand S. Kidney disease in the first degree relatives of African-Americans with hypertensive end-stage renal disease. Am J Kidney Dis. 1996;27:341-346.
19. Callen DF, Lane SA, Kozman H, Kremmidiotis G, Whitmore SA, Lowenstein M, Doggett NA, Kenmochi N, Page DC, Maglott DR, Nierman WC, Murakawa K, Berry R, Sikela JM, Houlgatte R, Auffray C, Sutherland GR. Integration of transcript and genetic maps of chromosome 16 at near-1-Mb resolution: demonstration of a 'Hot Spot' for recombination at 16p12. Genomics. In press.
20. Whitmore SA, Apostolou S, Lane S, Nancarrow JK, Phillips HA, Richards RI, Sutherland GR, Callen DF. Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16. Genomics. 1994;20:169-175.
21. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215.
22. Litt M, Hauge X, Sharma V. Shadow bands seen when typing polymorphic dinucleotide repeats: some causes and cures. Biotechniques. 1993;15:280-284.
23. Krozowski ZS, Baker E, Obeyesekere V, Callen DF. Localization of the gene for human 11-beta-hydroxysteroid dehydrogenase type 2 enzyme to chromosome 16q22. Cytogenel Cell Genet. In press.
24. Agarwal AK, Rogerson FM, Mune T, White PC. Gene structure and chromosomal localization of the human HSD11K gene encoding the kidney (type 2) isozyme of 11β-hydroxysteroid dehydrogenase. Genomics. 1995;29:195-199.
25. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernadi G, Lathrop M, Weissenbach J. The 1993-94 Genethon human genetic linkage map. Nat Genet. 1994;7: 246-339.
26. Thompson AD, Shen Y, Holman K, Sutherland GR, Callen DF, Richards RI. Isolation and characterization of (AC)n microsatellite genetic markers from human chromosome 16. Genomics. 1992;13:402-408.
27. Woolf B. On estimating the relation between blood group and disease. Ann Hum Genet. 1955;19:251-253.1.