Genetic Etiology of Sodium-Lithium Countertransport

描述（由申请方提供）：在原发性高血压患者中观察到红细胞钠-锂反向转运增加。基因组区域影响个体间的差异，钠-锂反向转运已被确定的连锁分析。虽然许多复杂疾病性状的研究已经进行了全基因组连锁分析，很少有成功地利用这些信息来确定潜在的疾病易感基因。我们提出了一个实用的研究策略，以后续的复制连锁峰10号染色体上确定从全基因组扫描钠-锂逆向转运。该区域仅包含罗切斯特家族心脏研究各阶段1个LOD置信区间重叠的55个基因。这允许检查每个基因对感兴趣的主要和次要性状（即分别为钠-锂反向转运和高血压）的贡献。该项目的目标是确定影响钠-锂反向转运的等位基因变异以及发生原发性高血压的风险。

DESCRIPTION (provided by applicant): 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.