Weder Alan B, Delgado Maria Carolina, Zhu Xiaofeng, Gleiberman Lillian, Kan Donghui, Chakravarti Aravinda
Division of Hypertension, University of Michigan, Ann Arbor, MI 48109, USA.
Hypertension. 2003 Mar;41(3 Pt 2):842-6. doi: 10.1161/01.HYP.0000048703.16933.6D. Epub 2002 Dec 23.
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 approximately 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.
红细胞钠-锂逆向转运活性增加与原发性高血压相关。钠-锂逆向转运具有高度遗传性，但尚未鉴定出介导该交换或解释钠-锂逆向转运活性增加与高血压之间关联的单一基因产物。我们以红细胞钠-锂逆向转运作为定量表型，并使用平均分辨率约为10厘摩的全基因组标记进行连锁研究，以确定解释钠-锂逆向转运活性的数量性状基因座。在15号染色体q臂上的D15S642处检测到峰值LOD分数为2.83，该标记先前已显示与血压相关。定位到该区域的几个基因可能是影响红细胞钠-锂逆向转运和/或血压的因素的候选基因。进一步的研究证实该区域存在数量性状基因座并评估这些候选基因，可能有助于解释钠-锂逆向转运升高与高血压之间的关联。
