PMID: 11916625Mar 28, 2002Paper

Association studies between the HSD11B2 gene (encoding human 11beta-hydroxysteroid dehydrogenase type 2), type 1 diabetes mellitus and diabetic nephropathy

European Journal of Endocrinology
G G LaveryP M Stewart

Abstract

Mutations in the HSD11B2 gene (encoding human 11beta-hydroxysteroid dehydrogenase type 2) explain the syndrome of apparent mineralocorticoid excess where cortisol acts as a mineralocorticoid. A microsatellite marker within the HSD11B2 gene associates with salt sensitivity and hypertension--phenotypes characterising diabetic nephropathy. Here, we evaluate the HSD11B2 gene as a susceptibility locus for diabetic nephropathy. 150 patients with type 1 diabetes and nephropathy (DN), 145 patients with type 1 diabetes with a long duration of non-nephropathy (LDNN) and 151 normal controls were studied. We determined allele frequencies for the (CA)n repeat marker within intron I of the HSD11B2 gene. Duration of type 1 diabetes, diabetic status and renal function were recorded. 11 alleles (138-158) for the marker were observed. Allele 152 was significantly increased in controls compared with LDNN (70.5% vs 57.6%, P(c)<0.05 where P(c) is the P value corrected for multiple comparisons) but no difference was observed between DN and LDNN subjects. Allele 154 was significantly increased in the LDNN compared with the DN subjects (15.9% vs 7.0%, P(c)<0.01) but no difference was observed between DN and controls. A greater proportion of subjects c...Continue Reading

Citations

Jan 8, 2011·Genetics·Zachariah Gompert, C Alex Buerkle
Nov 23, 2007·Journal of the American Society of Nephrology : JASN·Zoltan BalazsAlex Odermatt
Mar 21, 2007·Annales d'endocrinologie·M-C VantyghemJ-L Wemeau
Aug 17, 2010·Reviews in Endocrine & Metabolic Disorders·Armand Krikorian, Mehreen Khan
Oct 31, 2019·Molecular Genetics & Genomic Medicine·Yanzi MengGuijun Qin
Jun 7, 2007·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Rasoul Alikhani-KoupaeiFelix J Frey
Jun 27, 2018·Journal of the Endocrine Society·Christina Maria GantGozewijn Dirk Laverman

❮ Previous
Next ❯

Related Concepts

Related Feeds

Autoimmune Diabetes & Tolerance

Patients with type I diabetes lack insulin-producing beta cells due to the loss of immunological tolerance and autoimmune disease. Discover the latest research on targeting tolerance to prevent diabetes.