Family based analysis of quantitative changes of erythrocyte membrane proteins in essential hypertension

Our previous studies have found significant quantitative changes in the erythrocyte membrane proteins in essential hypertension (EH). The purpose of the present study was to quantify genetic and environmental contributions to quantitative variability of erythrocyte membrane proteins in EH. We studied 115 hypertensive patients, 126 normotensive subjects, 235 of their first-degree relatives and 24 twin pairs by sodium dodecyl sulphate (SDS) polyacrylamide gel electrophoresis. The decomposition of total phenotypic variance of erythrocyte membrane proteins to genetic and environmental components was performed by the least squares method. We found that genetic factors play a significant role in the control of quantitative changes in erythrocyte membrane proteins in EH. The genetic contribution to anion exchanger variation was stronger in hypertensives (88%) than in normotensives (36%), and was attributed exclusively to additive polygenic effects. Variation in glucose transporter was under marked control of major gene effect (74%). Importantly, variations in anion and glucose transporters in EH but not in healthy controls were strongly affected by common underlying genes with strong pleiotropic effects (r=0.921, P<0.05). These data provide evidence to support the genetic source of quantitative changes in membrane proteins in EH. Furthermore, the pleiotropic effects of common underlying genes seem to be responsible for variations in the transport proteins likely associated with genetic susceptibility to essential hypertension.

Keywords
Essential hypertension, genetic contribution, major gene effect, pleiotropy, erythrocyte membrane proteins, anion exchanger, glucose transporter, cytoskeletal proteins, quantitative variation