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

• Published in: Indian journal of human genetics Vol. 10; no. 2
• Main Author: Ivanov Vladimir P., Polonikov Alexey V., Emeliyanova Oksana G., Solodilova Mariya A., Mandrik Irina A
• Format: Journal Article
• Language: English
• Published: Medknow Publications on behalf of Indian Society of Human Genetics 08-08-2005
• Subjects: Essential hypertension, genetic contribution, major gene effect, pleiotropy, erythrocyte membrane proteins, anion exchanger, glucose transporter, cytoskeletal proteins, quantitative variation
• ISSN: 0971-6866

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.