Genomic association/linkage of sodium lithium countertransport in CEPH pedigrees

Nicholas J. Schork, Jeffrey P. Gardner, Li Zhang, Danielle Fallin, Bonnie Thiel, Hieronim Jakubowski, Abraham Aviv

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)619-628
Number of pages10
Issue number5
StatePublished - Nov 1 2002

All Science Journal Classification (ASJC) codes

  • Internal Medicine


  • Glutathione
  • Intermediate phenotype
  • Ion transport
  • Lymphocytes
  • Oxidative stress


Dive into the research topics of 'Genomic association/linkage of sodium lithium countertransport in CEPH pedigrees'. Together they form a unique fingerprint.

Cite this