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Lack of Association of the 11β-Hydroxysteroid Dehydrogenase Type 1 Gene 83,557insA and Hexose-6-Phosphate Dehydrogenase Gene R453Q Polymorphisms with Body Composition, Adrenal Androgen Production, Blood Pressure, Glucose Metabolism, and Dementia
Author(s) -
Pauline Smit,
Marieke J. H. J. Dekker,
Frank Jan de Jong,
Annewieke W. van den Beld,
Jan W. Koper,
Huibert A. P. Pols,
Albert O. Brinkmann,
Frank H. de Jong,
Monique M.B. Breteler,
Steven W. J. Lamberts
Publication year - 2006
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2006-1349
Subject(s) - dehydrogenase , allele , gene , 11β hydroxysteroid dehydrogenase type 1 , endocrinology , cortisone , biology , medicine , biochemistry , enzyme
Recently, it was proposed that a combination of the 83,557insA polymorphism in the 11beta-hydroxysteroid dehydrogenase type 1 (HSD11B1) gene and the R453Q polymorphism in the hexose-6-phosphate dehydrogenase (H6PD) gene interacts to cause cortisone reductase deficiency (CRD) when at least three alleles are affected.

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