Possible association but no linkage of the HSD11B2 gene encoding the kidney isozyme of 11β-hydroxysteroid dehydrogenase to hypertension in Black people

Perrin C. White, Anil K. Agarwal, Airong Li, Heli Nikkila J Howard Pratt, Mark Caulfield, Adrian Clark, Claire McTernan, Paul M. Stewart

Research output: Contribution to journalArticle

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OBJECTIVE: The HSD11B2 (HSD11K) gene encoding the kidney isozyme of 11β-hydroxysteroid dehydrogenase is mutated in the syndrome of apparent mineralocorticoid excess, an autosomal recessive form of salt-sensitive hypertension. This gene is thus a logical candidate locus for risk of essential hypertension. DESIGN AND METHODS: Because hypertension in Black people tends to be of the low-renin, salt sensitive type, we genotyped independent sets of hypertensives of Afro-American (59 kindreds) and Afro-Caribbean (66 kindreds) origin using a highly polymorphic (heterozygosity index 0.84) CA repeat polymorphism in the first intron of HSD11B2. Linkage was assessed by the affected pedigree member method. RESULTS: No linkage of hypertension to this locus could be demonstrated, but statistically significant allelic associations were noted. CONCLUSIONS: HSD11B2 does not have a strong influence on the development of essential hypertension in Black people, but weaker effects on blood pressure cannot be ruled out.

Original languageEnglish (US)
Pages (from-to)249-252
Number of pages4
JournalClinical Endocrinology
Issue number2
Publication statusPublished - 2001


ASJC Scopus subject areas

  • Endocrinology

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