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

doi:10.1002/gepi.1370030509

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 journal › Article › peer-review

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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 language	English (US)
Pages (from-to)	365-378
Number of pages	14
Journal	Genetic epidemiology
Volume	3
Issue number	5
DOIs	https://doi.org/10.1002/gepi.1370030509
State	Published - Jan 1 1986

Keywords

blood pressure
complex segregation analysis
hypertension
major gene

ASJC Scopus subject areas

Epidemiology
Genetics(clinical)

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10.1002/gepi.1370030509

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title = "Analysis of the distribution of erythrocyte sodium lithium countertransport in a sample representative of the general population",

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.",

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AU - Boerwinkle, Eric

AU - Turner, Stephen T.

AU - Weinshilboum, Richard

AU - Johnson, Mark

AU - Richelson, Elliott

AU - Sing, Charles F.

PY - 1986/1/1

Y1 - 1986/1/1

N2 - 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.

AB - 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.

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KW - complex segregation analysis

KW - hypertension

KW - major gene

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

Abstract

Keywords

ASJC Scopus subject areas

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