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.
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism