Genetic Regulation of Plasma Levels of Vitamin K-dependent Proteins Involved in Hemostasis
Genetic Regulation of Plasma Levels of Vitamin K-dependent Proteins Involved in Hemostasis
复制标题
参与止血的维生素 K 依赖性蛋白血浆水平的基因调控
DOI：
10.1055/s-0037-1612909
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发表时间：
2001
影响因子：
6.7
通讯作者：
J. Fontcuberta
中科院分区：
文献类型：
--
作者：
J. Souto;L. Almasy;J. Blangero;W. Stone;M. Borrell;T. Urrutia;J. Mateo;J. Fontcuberta
维生素K依赖性蛋白在止血中起关键作用。我们分析了遗传和环境之间的相关性措施的几种维生素K依赖蛋白在21个西班牙大家庭，包括397个人。在自动凝血仪中测定因子II、VII、IX、X、蛋白C和功能性蛋白S的血浆功能水平。使用ELISA方法测量总蛋白S和游离蛋白S的抗原水平。最大似然法为基础的协方差分解分析被用来评估每个性状的遗传力和所有可能的对之间的遗传和环境的相关性。所有的血浆水平有一个显着的遗传成分（遗传力），范围从22%至52%的表型方差。在28对可能的遗传相关性中，18对在p <0.05的水平上是显著的，6对表现出p值在0.05和0.10之间。在25对中观察到正环境相关性（p <0.05）。我们的结论是，遗传效应占很大比例的维生素K依赖蛋白的表型变异。一些基因似乎多效性地影响所有这些性状，因为大多数对表型表现出显着的遗传相关性。然而，由于这些表型显示出高度的环境相关性，因此也可能是相同的环境因素共同影响它们。
Summary Vitamin K-dependent proteins play a critical role in hemostasis. We have analysed the genetic and environmental correlations between measures of several vitamin K-dependent proteins in 21 Spanish extended families, including 397 individuals. Plasma functional levels of factors II, VII, IX, X, protein C and functional protein S were assayed in an automated coagulometer. Antigenic levels of total and free protein S were measured using an ELISA method. A maximum likelihood-based covariance decomposition analysis was used to assess the heritability of each trait and the genetic and environmental correlations between all possible pairs. All of the plasma levels had a significant genetic component (heritability) ranging from 22% to 52% of the phenotypic variance. Among the 28 possible pairs of genetic correlations, 18 were significant at a level of p <0.05 and six exhibited a p-value between 0.05 and 0.10. Positive environmental correlation was observed for 25 of the pairs (p <0.05). We conclude that genetic effects account for a large proportion of the observed phenotypic variation in vitamin K-dependent proteins. Some of the genes appear to pleiotropically influence all of these traits, since most pairs of phenotypes exhibit significant genetic correlation. However, since these phenotypes show a high degree of environmental correlation, it is also likely that the same environmental factors influence them co-jointly.
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影响因子：
9.8
作者：
Almasy, L;Blangero, J
通讯作者：
Blangero, J
影响因子：
9.8
作者：
Souto, JC;Almasy, L;Blangero, J
通讯作者：
Blangero, J
激素水平与身体脂肪积累和地形测量之间的遗传和环境相关性。
DOI：
10.1210/jcem.81.2.8636274
发表时间：
1996
期刊：
The Journal of clinical endocrinology and metabolism.
影响因子：
--
作者：
Comuzzie,AG;Blangero,J;Mahaney,MC;Haffner,SM;Mitchell,BD;Stern,MP;MacCluer,JW
通讯作者：
MacCluer,JW
影响因子：
37.8
作者：
Souto, JC;Almasy, L;Fontcuberta, J
通讯作者：
Fontcuberta, J