Genetic Etiology of Sodium-Lithium Countertransport

钠-锂反转运的遗传病因学

• 批准号: 7388193
• 负责人: Alanna C Morrison
• 金额: $ 35.61万
• 依托单位: UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-04-01 至 2010-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7388193
• 关键词: Accounting; African American; Blood Pressure; Chromosomes, Human, Pair 10; Clinical; Complex; Confidence Intervals; County; Data; Databases; Disease; Disease susceptibility; Erythrocytes; Essential Hypertension; Ethnic group; Family; Gene Proteins; Gene Targeting; Generations; Genes; Genetic Predisposition to Disease; Genetic Variation; Genomics; Genotype; Goals; Haplotypes; Heart; Hispanics; Hypertension; Individual; Ion Exchange; Lead; Linkage Disequilibrium; Lithium; Metabolic Marker; Methods; Not Hispanic or Latino; Numbers; Pathway interactions; Patients; Phase; Population; Principal Investigator; Research; Research Personnel; Risk; Sampling; Sampling Studies; Single Nucleotide Polymorphism; Sodium; Susceptibility Gene; Testing; Variant; base; case control; follow-up; genetic linkage analysis; genetic pedigree; genome wide association study; genome-wide linkage; interest; programs; response; trait

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.

描述（由申请人提供）：在患有基本高血压的患者中观察到红细胞钠反transport的增加。通过链接分析确定了影响硫硫乙烷反通道中个体间变异的基因组区域。尽管对复杂疾病特征进行了大量研究进行了全基因组联系分析，但很少有人成功地使用了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，以跟进从基因组扫描中识别为硫乙烷氧化钠逆转录的10号染色体上的重复连锁峰。该区域在罗切斯特家庭心脏研究的每个阶段的1个LOD置信区间的重叠中仅包含55个基因。这允许研究每个基因对主要和次要特征的贡献（即分别为硫硫乙烷反通道和高血压）。该项目的目的是鉴定影响锂钠反传输的等位基因变异，以及发展基本高血压的风险。

项目成果

Association of SLC34A2 variation and sodium-lithium countertransport activity in humans and baboons.

SLC34A2 变异与人类和狒狒中钠-锂反转运活动的关联。

• DOI: 10.1038/ajh.2008.355
• 发表时间: 2009
• 期刊: American journal of hypertension
• 影响因子: 3.2
• 作者: Zheng,Xiaojing;Kammerer,CandaceM;Cox,LauraA;Morrison,Alanna;Turner,StephenT;Ferrell,RobertE
• 通讯作者: Ferrell,RobertE

Association between NEDD4L gene and sodium lithium countertransport.

NEDD4L 基因与钠锂反转运之间的关联。

• DOI: 10.1038/ajh.2010.222
• 发表时间: 2011
• 期刊: American journal of hypertension
• 影响因子: 3.2
• 作者: Zheng,Xiaojing;Morrison,AlannaC;Feingold,Eleanor;Turner,StephenT;Ferrell,RobertE
• 通讯作者: Ferrell,RobertE

Association between SLC20A1 and sodium-lithium countertransport.

SLC20A1 与钠-锂逆向转运之间的关联。

• DOI: 10.1038/ajh.2011.130
• 发表时间: 2011
• 期刊: American journal of hypertension
• 影响因子: 3.2
• 作者: Zheng,Xiaojing;Morrison,AlannaC;Turner,StephenT;Ferrell,RobertE
• 通讯作者: Ferrell,RobertE