Genotypes at 11β-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 10, 2005, Pages 5880-5883

  White, Perrin C ^a,b  

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

^b UNIVERSITY OF TEXAS AT DALLAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; 3ALPHA(OR 20BETA) HYDROXYSTEROID DEHYDROGENASE; CORTICOSTEROID; CORTISONE; FOLLITROPIN; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; HYDROCORTISONE; INSULIN; LUTEINIZING HORMONE; TESTOSTERONE; GALACTOSE 6 PHOSPHATE DEHYDROGENASE; GALACTOSE-6-PHOSPHATE DEHYDROGENASE; OXIDOREDUCTASE; STEROID;

ADULT; AGED; ALLELE; APPARENT CORTISONE REDUCTASE DEFICIENCY; ARTICLE; BODY MASS; ENZYME DEFICIENCY; ETHNOLOGY; FOLLITROPIN BLOOD LEVEL; GENE FREQUENCY; GENE LOCUS; GENETIC POLYMORPHISM; GENOTYPE; HISPANIC; HUMAN; INHERITANCE; INSULIN SENSITIVITY; INTRON; LUTEINIZING HORMONE BLOOD LEVEL; OBESITY; OUTCOMES RESEARCH; OVARY POLYCYSTIC DISEASE; PRIORITY JOURNAL; RISK FACTOR; SEX ROLE; TESTOSTERONE BLOOD LEVEL; URINARY EXCRETION; WAIST CIRCUMFERENCE; ADOLESCENT; FEMALE; GENETIC SCREENING; GENETICS; MALE; MIDDLE AGED; POPULATION; UNITED STATES; URINE;

11-BETA-HYDROXYSTEROID DEHYDROGENASES; ADOLESCENT; ADULT; AGED; ALLELES; CARBOHYDRATE DEHYDROGENASES; CORTISONE REDUCTASE; FEMALE; GENE FREQUENCY; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYCYSTIC OVARY SYNDROME; POPULATION; RISK FACTORS; STEROIDS; TEXAS;

EID: 26244456538     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-0942     Document Type: Article

References (16)

1. Jamieson A, Wallace AM, Andrew R, Nunez BS, Walker BR, Fraser R, White PC, Connell JM 1999 Apparent cortisone reductase deficiency: a functional defect in 11β-hydroxysteroid dehydrogenase type 1. J Clin Endocrinol Metab 84:3570-3574
2. Phillipov G, Palermo M, Shackleton CH 1996 Apparent cortisone reductase deficiency: a unique form of hypercortisolism. J Clin Endocrinol Metab 81:3855-3860
3. Tomlinson JW, Walker EA, Bujalska IJ, Draper N, Lavery GG, Cooper MS, Hewison M, Stewart PM 2004 11β-Hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response. Endocr Rev 25:831-866
4. White PC, Mune T, Agarwal AK 1997 11β-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. Endocr Rev 18:135-156
5. Nikkila H, Tannin GM, New MI, Taylor NF, Kalaitzoglou G, Monder C, White PC 1993 Defects in the HSD11 gene encoding 11β-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency. J Clin Endocrinol Metab 77:687-691
6. Draper N, Walker EA, Bujalska IJ, Tomlinson JW, Chalder SM, Arlt W, Lavery GG, Bedendo O, Ray DW, Laing I, Malunowicz E, White PC, Hewison M, Mason PJ, Connell JM, Shackleton CH, Stewart PM 2003 Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. Nat Genet 34:434-439
7. Ozols J 1995 Lumenal orientation and post-translational modifications of the liver microsomal 11β-hydroxysteroid dehydrogenase. J Biol Chem 270:2305-2312
8. Agarwal AK, Tusie-Luna MT, Monder C, White PC 1990 Expression of 11β-hydroxysteroid dehydrogenase using recombinant vaccinia virus. Mol Endocrinol 4:1827-1832
9. Victor RG, Haley RW, Willett DL, Peshock RM, Vaeth PC, Leonard D, Basit M, Cooper RS, Iannacchione VG, Visscher WA, Staab JM, Hobbs HH 2004 The Dallas Heart Study: a population-based probability sample for the multidisciplinary study of ethnic differences in cardiovascular health. Am J Cardiol 93:1473-1480
10. Abate N, Garg A, Coleman R, Grundy SM, Peshock RM 1997 Prediction of total subcutaneous abdominal, intraperitoneal, and retroperitoneal adipose tissue masses in men by a single axial magnetic resonance imaging slice. Am J Clin Nutr 65:403-408
11. Lee LG, Connell CR, Bloch W 1993 Allelic discrimination by nick-translation PCR with fluorogenic probes. Nucleic Acids Res 21:3761-3766
12. Palermo M, Delitala G, Mantero F, Stewart PM, Shackleton CH 2001 Congenital deficiency of 11β-hydroxysteroid dehydrogenase (apparent mineralocorticoid excess syndrome): diagnostic value of urinary free cortisol and cortisone. J Endocrinol Invest 24:17-23
13. Shackleton CH 1993 Mass spectrometry in the diagnosis of steroid-related disorders and in hypertension research. J Steroid Biochem Mol Biol 45:127-140
14. San Millan JL, Botella-Carretero JI, Alvarez-Blasco F, Luque-Ramirez M, Sancho J, Moghetti P, Excobar-Morreale HF 2005 A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11β-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome. J Clin Endocrinol Metab 90:4157-4162
15. Banhegyi G, Benedetti A, Fulceri R, Senesi S 2004 Cooperativity between 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase in the lumen of the endoplasmic reticulum. J Biol Chem 279:27017-27021
16. Atanasov AG, Nashev LG, Schweizer RA, Frick C, Odermatt A 2004 Hexose-6-phosphate dehydrogenase determines the reaction direction of 11β-hydroxysteroid dehydrogenase type 1 as an oxoreductase. FEBS Lett 571:129-133