From the Department of Physiology, University of Melbourne, Parkville,
Australia (A.K., Z.Y.H.W., S.B.H.); MRC Blood Pressure Unit, Western
Infirmary, Glasgow (R.F.); Departments of Medicine and Therapeutics (D.L.D.)
and General Practice (G.C.M.W.), University of Glasgow; Duncan Guthrie
Institute of Medical Genetics, Yorkhill, Glasgow (J.M.C.); and the Division of
Public Health, Northern Regional Health Authority, Newcastle, UK (C.J.W.F.).
Correspondence to Professor Stephen B. Harrap, Department of Physiology, The University of Melbourne, Parkville, Victoria 3052, Australia. E-mail s.harrap{at}physiology.unimelb.edu.au
Abstract—The adducin genes
contribute significantly to population variation in rat blood pressure
and cell membrane sodium transport. The 460Trp mutation of the human
© 1998 American Heart Association, Inc.
Scientific Contributions
Human
-Adducin Gene, Blood Pressure, and Sodium Metabolism
-adducin gene has been associated with hypertension, in particular
hypertension sensitive to sodium restriction. We studied the
relationship between the 460Trp mutation and population variation in
blood pressure and sodium metabolism. From 603 Scottish
families, we selected 151 offspring and 224 parents with blood
pressures in either the upper (high) or bottom (low) 30% of the
population distribution and measured the 460Trp mutation using
allele-specific hybridization. In offspring, we also measured
exchangeable sodium, plasma volume, and total body water. Plasma levels
of components of the renin-angiotensin system, atrial
natriuretic peptide, and cellular sodium and transmembrane
sodium efflux were also estimated. The overall frequency of the 460Trp
mutation was 27.1%. In offspring and parent groups, we found no
difference in the genotype or allele frequencies of the
460Trp mutation between subjects with high or low blood pressure. There
was no overall association between the -adducin genotypes
and blood pressure variation. In offspring, the 460Trp mutation was not
associated with any significant differences in body fluid volumes or
exchangeable sodium; levels of plasma renin, angiotensin
II, aldosterone, or atrial natriuretic peptide;
intracellular sodium; or ouabain-sensitive transmembrane sodium efflux.
These findings suggest that in our Scottish population, the -adducin
460Trp polymorphism is not related to blood pressure and does not
affect whole body or cellular sodium metabolism.
Key Words: blood pressure • adducin • renin • genetics • family • sodium
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