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


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.
White
P C
PC
Department of Pediatrics, University of Texas South-western Medical Center, Dallas, TX 75235-9063, USA. Perrin.White@UTSouthwestern.edu
Agarwal
A K
AK
Li
A
A
Nikkila
H
H
Pratt
J H
JH
Caulfield
M
M
Clark
A
A
McTernan
C
C
Stewart
P M
PM
D043209:11-beta-Hydroxysteroid Dehydrogenase Type 2; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044383:Black People / Q000235:genetics*; D016009:Chi-Square Distribution; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D006913:Hydroxysteroid Dehydrogenases / Q000235:genetics*; D006973:Hypertension / Q000235:genetics*; D007527:Isoenzymes; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D011110:Polymorphism, Genetic
D007527:Isoenzymes; D006913:Hydroxysteroid Dehydrogenases; D043209:11-beta-Hydroxysteroid Dehydrogenase Type 2; C468387:HSD11B2 protein, human