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犹他州家系中红细胞内钠浓度遗传决定因素的初步证据。

Preliminary evidence for genetic determination of intraerythrocytic sodium concentration in Utah pedigrees.

作者信息

Dadone M M, Smith J B, Wu L, Ash K O, Williams R R

出版信息

Am J Med Genet. 1987 May;27(1):39-44. doi: 10.1002/ajmg.1320270106.

Abstract

Intraerythrocytic sodium concentration has been reported to be increased in hypertensive individuals and some of their normotensive relatives. We investigated the "familiality" of this trait in 572 nonhypertensive subjects from 34 Utah kindreds. Most of these kindreds were selected because of a high incidence of hypertension, heart attack, or stroke. Intraerythrocytic sodium concentration was correlated with the sex of the subject and suprailiac skinfold thickness. Intraerythrocytic sodium concentration was adjusted by linear regression for these 2 factors. The residual values were positively correlated in parent-offspring pairs and among sibs, both those presumed to be living together and those presumed to be living apart. The spouse-spouse correlation was not significant. Pedigree analysis suggested a mixed major-gene/polygenic model of inheritance, but these data did not allow us to distinguish between dominant and recessive inheritance for the major gene component. Total heritability due to both major-gene and polygenic components was estimated to be 90-95%; the proportion of the total variance due to polygenes was estimated to be 60-75%. These results suggest that further study of the relationship between the inheritance of intraerythrocytic sodium and the pathophysiology of hypertension is warranted.

摘要

据报道,高血压患者及其一些血压正常的亲属的红细胞内钠浓度会升高。我们对来自34个犹他州家族的572名非高血压受试者的这一特征的“家族性”进行了调查。这些家族中的大多数是因为高血压、心脏病发作或中风的高发病率而被挑选出来的。红细胞内钠浓度与受试者的性别及髂上皮肤褶厚度相关。针对这两个因素,通过线性回归对红细胞内钠浓度进行了调整。在父母与子女对以及兄弟姐妹之间,无论是假定生活在一起的还是假定分开生活的,残差值均呈正相关。配偶之间的相关性不显著。系谱分析表明存在一种混合的主基因/多基因遗传模式,但这些数据无法让我们区分主基因成分的显性遗传和隐性遗传。主基因和多基因成分导致的总遗传率估计为90% - 95%;多基因导致的总方差比例估计为60% - 75%。这些结果表明,有必要进一步研究红细胞内钠的遗传与高血压病理生理学之间的关系。

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