Erythrocyte sodium-lithium countertransport and blood pressure: a genome-wide linkage study.
Erythrocyte sodium-lithium countertransport and blood pressure: a genome-wide linkage study.
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红细胞钠锂反转运和血压：全基因组连锁研究。
DOI：
10.1161/01.hyp.0000048703.16933.6d
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发表时间：
2003
期刊：
影响因子：
--
通讯作者：
Chakravarti,Aravinda
中科院分区：
文献类型：
--
作者：
Weder,AlanB;Delgado,MariaCarolina;Zhu,Xiaofeng;Gleiberman,Lillian;Kan,Donghui;Chakravarti,Aravinda
红细胞钠-锂逆向转运活性增加与原发性高血压相关。钠-锂反向转运是高度遗传的，但没有单一的基因产物介导的交换或解释增加的钠-锂反向转运活动和高血压的关联已被确定。我们进行了连锁研究，使用红细胞钠-锂逆向转运作为一个定量表型和全基因组标记，平均分辨率为1000 cM，以确定解释钠-锂逆向转运活动的数量性状位点。在染色体15 q的D15 S642处检测到2.83的峰值LOD评分，该标记先前显示与血压相关。映射到该区域的几个基因可能是影响红细胞钠-锂反向转运和/或血压的因素的候选者。进一步的研究证实了该区域存在数量性状位点，并评估了这些候选基因，这可能有助于解释钠-锂反向转运升高与高血压的关系。
Increased activity of erythrocyte sodium-lithium countertransport is associated with essential hypertension. Sodium-lithium countertransport is highly heritable, but no single gene product mediating the exchange or explaining the association of increased sodium-lithium countertransport activity and hypertension has been identified. We performed a linkage study by using erythrocyte sodium-lithium countertransport as a quantitative phenotype and genome-wide markers at an average resolution of ≈10 cM to identify quantitative trait loci explaining sodium-lithium countertransport activity. A peak LOD score of 2.83 was detected on chromosome 15q at D15S642, a marker previously shown to be linked to blood pressure. Several genes mapped to this region are possible candidates for factors affecting erythrocyte sodium-lithium countertransport and/or blood pressure. Further studies confirming the presence of a quantitative trait locus in this region and evaluating these candidate genes may help explain the association of elevated sodium-lithium countertransport and hypertension.