Discordant Segregation Of Na+,K+-Adenosine Triphosphatase Alleles And Essential-Hypertension

Objectives: To determine whether the alpha2 and or beta1 isoforms of the Na+,K+-adenosine triphosphatase (Na+,K+-ATPase) are involved in the pathogenesis of essential hyperten sion.Design: Segregation analysis of polymorphic DNA markers was used to test the involvement of Na+,K+-ATPase in essential hypertension. Participants. Children with persistent hypertension having one parent with essential hypertension were included in the study. Criteria for persisent hypertension were blood pressure readings with systolic and/or diastolic levels exceeding the 95th percentile based upon age and sex. The diagnosis of hypertension for adults, including parents and older siblings, was confirmed using criteria recommended in the 1988 report of the Joint National Committee on Detection, Evaluation, and Treatment of High Blood Pressure.Results: In three essential hypertensive families consisting of 18 members including 11 hypertensives, several obligate recombinants between the Na+,K+-ATPase alpha2 isoform marker and the hypertension phenotype were observed. Similarly, in one hypertension family consisting of four members, obligate recombinants between the beta1 isoform marker and the disease were observed.Conclusions: The discordant segregation of the alpha2 and beta1 isoform markers and essential hypertension suggests that neither the Na+,K+-ATPase alpha2 nor beta1 isoform genes play a primary role in the pathogenesis of hypertension in the families studied.