ASSOCIATION OF THE ALPHA-ADDUCIN LOCUS WITH ESSENTIAL-HYPERTENSION
ASSOCIATION OF THE ALPHA-ADDUCIN LOCUS WITH ESSENTIAL-HYPERTENSION
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DOI：
10.1161/01.hyp.25.3.320
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发表时间：
1995-03-01
期刊：
影响因子：
8.3
通讯作者：
BIANCHI, G
中科院分区：
文献类型：
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作者：
CASARI, G;BARLASSINA, C;BIANCHI, G
先前对遗传性大鼠高血压的研究表明，α-内收蛋白基因内的多态性可能调节血压。内收蛋白是一种细胞骨架蛋白，可能参与细胞信号转导，并与影响离子跨细胞膜转运的其他膜骨架蛋白相互作用。大鼠和人类内收蛋白之间存在高度同源性，米兰高血压大鼠品系和原发性高血压患者亚组之间存在病理生理学相似性。因此，我们设计了一个病例对照研究，以测试α-内收蛋白基因座和高血压之间的可能关联。190例原发性高血压患者与126例对照组进行了比较。所有受试者均为白色且无关。选择了位于4p16.3的cr-内收蛋白基因座周围的4个多等位基因标记：D4 S125和D4 S95定位在680和20 kb的着丝粒，D4 S43和D4 S228/E24定位在660和2500 kb的端粒。将每个标记的等位基因合并成组。对照组和高血压患者之间的比较是通过检测相对于标记基因型的等位基因-疾病关联来进行的。最大关联发生在D4 S95（chi（1）（2）13.33），其映射最接近α-内收蛋白。这些数据表明，α-内收蛋白基因的多态性可能会影响人类的血压。
Previous studies on genetic rat hypertension have shown that polymorphism within the alpha-adducin gene may regulate blood pressure. Adducin is a cytoskeletal protein that may be involved in cellular signal transduction and interacts with other membrane-skeleton proteins that affect ion transport across the cell membrane. There is a high homology between rat and human adducin and pathophysiological similarities between the Milan hypertensive rat strain and a subgroup of patients with essential hypertension. Thus, we designed a case-control study to test the possible association between the alpha-adducin locus and hypertension. One hundred ninety primary hypertensive patients were compared with 126 control subjects. All subjects were white and unrelated. Four multiallelic markers surrounding the cr-adducin locus located in 4p16.3 were selected: D4S125 and D4S95 mapping at 680 and 20 kb centromeric, and D4S43 and D4S228/E24 mapping at 660 and 2500 kb telomeric. Alleles for each marker were pooled into groups. Comparisons between control subjects and hypertensive patients were carried out by testing the allele-disease association relative to the marker genotype. The maximal association occurred for D4S95 (chi(1)(2) 13.33), which maps closest to alpha-adducin. These data suggest that a polymorphism within the alpha-adducin gene may affect blood pressure in humans.