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首页> 外文期刊>Annals of Human Genetics >Combined segregation and linkage analysis of fibrinogen variability in Israeli families: evidence for two quantitative-trait loci, one of which is linked to a functional variant (-58G > A) in the promoter of the alpha-fibrinogen gene.
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Combined segregation and linkage analysis of fibrinogen variability in Israeli families: evidence for two quantitative-trait loci, one of which is linked to a functional variant (-58G > A) in the promoter of the alpha-fibrinogen gene.

机译：以色列家庭中纤维蛋白原变异性的分离分离和连锁分析：两个定量特征位点的证据，其中一个与α-纤维蛋白原基因启动子中的功能性变体（-58G> A）相关。

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The association of alpha- and beta-fibrinogen polymorphisms with plasma fibrinogen levels was examined in a sample of 452 family members from 80 Israeli kindreds. The measured genotype analysis indicated that the beta-fibrinogen -455G > A polymorphism was not associated with fibrinogen levels, while the alpha-fibrinogen -58G > A locus showed a significant association with fibrinogen levels (chi2= 17.7; df = 3; p < 0.001), with the -58A allele being associated with higher levels. Segregation analysis in this sample suggested a recessive quantitative-trait locus (QTL) with a major effect that controlled the sex- and age-adjusted fibrinogen levels. Results from a combined segregation/linkage analysis indicated that a single QTL influencing plasma fibrinogen is in gametic equilibrium with the beta-fibrinogen -455G > A and alpha-fibrinogen -58G > A polymorphisms. An extended analysis with a two-QTL model significantly improved the fit of the model (p < or = 0.001), and gave support for linkage between the fibrinogen QTL and the alpha-fibrinogen polymorphism. In vitro analysis with a DNA fragment containing this variant, linked to a reporter gene, showed 2-fold higher expression of the A allele compared to the G allele in the liver cell line HepG2, both under basal conditions and after stimulation with interleukin 6. These results demonstrate that two QTLs are jointly involved in determining plasma fibrinogen levels in this sample of families, one of which is located close to a functional variant in the alpha-fibrinogen locus.
机译：在来自80个以色列血统的452个家庭成员的样本中，检查了α-和β-纤维蛋白原多态性与血浆纤维蛋白原水平的关系。测得的基因型分析表明，β-纤维蛋白原-455G> A多态性与纤维蛋白原水平无关，而α-纤维蛋白原-58G> A位点显示与纤维蛋白原水平显着相关（chi2 = 17.7; df = 3; p < 0.001），而-58A等位基因与更高的水平相关。在该样本中的隔离分析表明，隐性定量性状基因座（QTL）具有主要作用，可控制性别和年龄调整的纤维蛋白原水平。组合分离/连锁分析的结果表明，影响血浆纤维蛋白原的单个QTL与β-纤维蛋白原-455G> A和α-纤维蛋白原-58G> A多态性处于配子平衡状态。用两个QTL模型进行的扩展分析显着改善了模型的拟合度（p <或= 0.001），并为纤维蛋白原QTL和α-纤维蛋白原多态性之间的联系提供了支持。在基础条件下和用白介素6刺激后，在肝细胞系HepG2中用含有与报告基因相连的变异体的DNA片段进行的体外分析表明，与G等位基因相比，A等位基因的表达高2倍。这些结果表明，两个QTL共同参与测定该家庭样品中的血浆纤维蛋白原水平，其中一个位于α-纤维蛋白原基因座的功能变体附近。

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