Boerwinkle E, Turner S T, Weinshilboum R, Johnson M, Richelson E, Sing C F
Genet Epidemiol. 1986;3(5):365-78. doi: 10.1002/gepi.1370030509.
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 tau 2 = 0.749. We hypothesize that this deviation of tau 2 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.
大量关于钠-锂逆向转运（Na-Li CNT）的研究报告称，原发性高血压患者的Na-Li CNT速率高于血压正常的对照者。我们使用了238名无亲缘关系个体的样本以及50个家系中245名个体的样本（所有样本均从广大人群中抽取），研究了Na-Li CNT的分布及遗传模式。Na-Li CNT的分布是连续且双峰的。我们的结果表明，遗传因素对Na-Li CNT的分布有很大影响。限制传递模型（τ2 = 0.749）对这些数据的拟合支持了导致双峰性的效应代代相传这一假设。我们推测，τ2偏离其孟德尔预期可能归因于广大人群中Na-Li CNT分布双峰性病因的异质性。
