Genomic Association/Linkage of Sodium Lithium Countertransport in CEPH Pedigrees
作者:
Nicholas Schork,
Jeffrey Gardner,
Li Zhang,
Danielle Fallin,
Bonnie Thiel,
Hieronim Jakubowski,
Abraham Aviv,
期刊:
Hypertension: Journal of The American Heart Association
(OVID Available online 2002)
卷期:
Volume 40,
issue 5
页码: 619-628
ISSN:0194-911X
年代: 2002
出版商: OVID
关键词: oxidative stress;ion transport;lymphocytes;glutathione;intermediate phenotype
数据来源: OVID
摘要:
Abstract—Little is known about genetic determinants explaining variation in the erythrocyte sodium-lithium countertransport (SLC), an intermediate phenotype of essential hypertension. We characterized the SLC in immortalized lymphoblasts and showed that its behavior is similar to that of erythrocyte SLC. We then performed association and linkage analyses of the SLC in immortalized lymphoblasts from 5 large pedigrees from the Center d’Etude du Polymorphisme Humain (CEPH) genomics repository. The results of these analyses showed that a number of genomic regions harboring genes involved in glutathione metabolism might explain variations in SLC activity. These findings support evidence that thiol groups play a central role in SLC activity.
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