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

• Published in: Clinical endocrinology (Oxford) Vol. 55; no. 2; pp. 249 - 252
• Main Authors: White, P C, Agarwal, A K, Li, A, Nikkila, H, Pratt, J H, Caulfield, M, Clark, A, McTernan, C, Stewart, P M
• Format: Journal Article
• Language: English
• Published: England 01.08.2001
• Subjects: 11-beta-Hydroxysteroid Dehydrogenase Type 2; Adolescent; Adult; African Continental Ancestry Group - genetics; Aged; Aged, 80 and over; Alleles; Chi-Square Distribution; Female; Genetic Linkage; Genotype; Humans; Hydroxysteroid Dehydrogenases - genetics; Hypertension - genetics; Isoenzymes; Male; Microsatellite Repeats; Middle Aged; Pedigree; Polymorphism, Genetic
• ISSN: 0300-0664

The HSD11B2 (HSD11K) gene encoding the kidney isozyme of 11beta-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. 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. No linkage of hypertension to this locus could be demonstrated, but statistically significant allelic associations were noted. 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.