Genetic Etiology of Sodium-Lithium Countertransport
Principal Investigator: Alanna Morrison
Affiliation: Texas Medical Center
Abstract: Increased erythrocyte sodium-lithium countertransport is observed in patients with essential hypertension. Genomic regions influencing inter-individual variation in sodium-lithium countertransport have been identified by linkage analyses. While numerous studies of complex disease traits have carried out genome-wide linkage analyses, few have successfully used this information to identify underlying disease susceptibility genes. We propose a practical research strategy to follow-up a replicated linkage peak on chromosome 10 identified from genome-wide scans for sodium-lithium countertransport. This region contains only 55 genes in the overlap of the 1 LOD confidence intervals from each Phase of the Rochester Family Heart Study. This allows for the examination of the contribution of every gene to the primary and secondary traits of interest (i.e. sodium-lithium countertransport and hypertension, respectively). The goal of the project is the identification of allelic variation influencing sodium-lithium countertransport as well as risk of developing essential hypertension.
Funding Period: 2005-04-01 - 2009-03-31
more information: NIH RePORT
- Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10Alanna C Morrison
Human Genetics Center, University of Texas Health Science Center at Houston, Houston, Texas, USA
Am J Hypertens 21:117-21. 2008..Consistent evidence of genetic linkage was shown for SLC on chromosome 10, and a region of interest was localized between 26 and 56 Mb...
- ESR1 polymorphism is associated with plasma lipid and apolipoprotein levels in Caucasians of the Rochester Family Heart StudyKathy L E Klos
Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, USA
J Lipid Res 49:1701-6. 2008..0030 and P = 0.0024) than in males (P > 0.05). These findings suggest that ESR1 variation plays an age- and sex-dependent role in determining plasma lipid and apolipoprotein levels...
- Association of SLC34A2 variation and sodium-lithium countertransport activity in humans and baboonsXiaojing Zheng
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
Am J Hypertens 22:288-93. 2009..The specific aim of this study was to identify genetic variants of the SLC34A2 gene in both baboon and human, and to examine the relationship of these polymorphisms with SLC activity and blood pressure...