A combination of polymorphisms in HSD11B1 associates with in vivo 11{beta}-HSD1 activity and metabolic syndrome in women with and without polycystic ovary syndrome

Alessandra Gambineri, Federica Tomassoni, Alessandra Munarini, Roland H Stimson, Roberto Mioni, Uberto Pagotto, Karen E Chapman, Ruth Andrew, Vilma Mantovani, Renato Pasquali, Brian R Walker

Research output: Contribution to journalArticlepeer-review

Abstract

Regeneration of cortisol by 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) within liver and adipose tissue may be of pathophysiological importance in obesity and the metabolic syndrome. single nucleotide polymorphisms (SNPs) in HSD11B1, the gene encoding 11β-HSD1, have been associated with type 2 diabetes and hypertension in population-based cohort studies, and with hyperandrogenism in patients with the polycystic ovary syndrome (PCOS). However, the functional consequences of these SNPs for in vivo 11β-HSD1 expression and activity are unknown.
Original languageEnglish
Pages (from-to)283-92
Number of pages10
JournalEuropean Journal of Endocrinology
Volume165
Issue number2
DOIs
Publication statusPublished - 2011

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