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Possible association but no linkage of the HSD11B2 gene encoding the kidney isozyme of 11β‐hydroxysteroid dehydrogenase to hypertension in Black people
Author(s) -
White Perrin C.,
Agarwal Anil K.,
Li Airong,
Nikkila Heli,
Pratt J. Howard,
Caulfield Mark,
Clark Adrian,
McTernan Claire,
Stewart Paul M.
Publication year - 2001
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1046/j.1365-2265.2001.01314.x
Subject(s) - isozyme , endocrinology , medicine , gene , kidney , biology , hydroxysteroid dehydrogenase , dehydrogenase , genetics , enzyme , biochemistry
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.