title: Genomic association/linkage of sodium lithium countertransport in CEPH pedigrees.
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.
authors.affiliation: Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA.
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Schork
authors.forename: Jeffrey P
authors.initials: JP
authors.lastname: Gardner
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Danielle
authors.initials: D
authors.lastname: Fallin
authors.forename: Bonnie
authors.initials: B
authors.lastname: Thiel
authors.forename: Hieronim
authors.initials: H
authors.lastname: Jakubowski
authors.forename: Abraham
authors.initials: A
authors.lastname: Aviv
mesh_terms: D000483:Alleles; D000808:Angiotensinogen / Q000235:genetics; D017920:Antiporters / Q000096:biosynthesis / Q000235:genetics*; D002461:Cell Line, Transformed; D002874:Chromosome Mapping; D004912:Erythrocytes / Q000378:metabolism; D005033:Ethylmaleimide / Q000494:pharmacology; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D005978:Glutathione / Q000235:genetics / Q000378:metabolism; D004854:Herpesvirus 4, Human; D006801:Humans; D017136:Ion Transport / Q000187:drug effects / Q000235:genetics; D008094:Lithium / Q000493:pharmacokinetics; D008214:Lymphocytes / Q000166:cytology / Q000187:drug effects / Q000378:metabolism; D008297:Male; D018384:Oxidative Stress; D010375:Pedigree; D010641:Phenotype; D013438:Sulfhydryl Compounds / Q000378:metabolism
chemical_list: D017920:Antiporters; D005819:Genetic Markers; D013438:Sulfhydryl Compounds; C045885:sodium-lithium countertransporter; D000808:Angiotensinogen; D008094:Lithium; D005978:Glutathione; D005033:Ethylmaleimide