Related Experiment Video
Updated: Sep 28, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genomic association/linkage of sodium lithium countertransport in CEPH pedigrees
Nicholas J Schork1, Jeffrey P Gardner, Li Zhang
1Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA.
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.
Related Concept Videos
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
Pedigree Analysis
Pharmacogenomics: Identification of New Drug Targets
Genetic Lingo
Dihybrid Crosses
Lysosomal Hydrolases
