Analysis of the distribution of erythrocyte sodium lithium countertransport in a sample representative of the general population

Eric Boerwinkle, Stephen T. Turner, Richard Weinshilboum, Mark Johnson, Elliott Richelson, Charles F. Sing

Research output: Contribution to journalArticle

67 Scopus citations

Abstract

Numerous studies of sodium-lithium countertransport (Na-Li CNT) have reported higher rates in essential hypertensives versus normotensive controls. We studied the distribution and the mode of inheritance of Na-Li CNT using a sample of 238 unrelated individuals and a sample of 245 individuals in 50 pedigrees all sampled from the population at large. The distribution of Na-Li CNT is continuous and bimodal. Our results indicate that there is a large genetic contribution to the distribution of Na-Li CNT. The hypothesis that the effect that causes bimodality is transmitted from generation to generation is supported by the fit to these data of a restricted transmission model with τ2 = 0.749. We hypothesize that this deviation of τ2 from its Mendelian expectation may be attributable to heterogeneity in the etiology of the bimodality in the Na-Li CNT distribution in the population at large.

Original languageEnglish (US)
Pages (from-to)365-378
Number of pages14
JournalGenetic epidemiology
Volume3
Issue number5
DOIs
StatePublished - Jan 1 1986

Keywords

  • blood pressure
  • complex segregation analysis
  • hypertension
  • major gene

ASJC Scopus subject areas

  • Epidemiology
  • Genetics(clinical)

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