Genetic Etiology of Sodium-Lithium Countertransport

描述(申请人提供)：观察到高血压病患者红细胞钠-锂逆向转运增加。通过连锁分析，已经确定了影响钠锂反转运个体间差异的基因组区域。虽然许多关于复杂疾病特征的研究已经进行了全基因组范围的连锁分析，但很少有人成功地利用这些信息来识别潜在的疾病易感基因。我们提出了一种实用的研究策略来跟踪从全基因组扫描中发现的10号染色体上的复制连锁高峰，以进行钠锂反转运。在罗切斯特家族心脏研究的每个阶段的1LOD可信区间的重叠部分，这个区域只包含55个基因。这使得可以检查每个基因对感兴趣的主要和次要特征的贡献(即，分别是钠锂逆向转运和高血压)。该项目的目标是确定影响钠锂反转运的等位基因变异以及发展为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.