Characterization of polymorphisms in the promoter of the human angiotensin II subtype 1 (AT1) receptor gene

被引：32

作者：

Erdmann, J

Riedel, K

Rohde, K

Folgmann, I

Wienker, T

Fleck, E

Regitz-Zagrosek, V

机构：

[1] Deutsches Herzzentrum Berlin, D-13353 Berlin, Germany

[2] Humboldt Univ, Dept Internal Med & Cardiol, D-1086 Berlin, Germany

[3] Max Delbruck Ctr Mol Med, Dept Bioinformat, Berlin, Germany

[4] Univ Bonn, Inst Med Stat, D-5300 Bonn, Germany

来源：

ANNALS OF HUMAN GENETICS | 1999年 / 63卷

关键词：

D O I：

10.1046/j.1469-1809.1999.6340369.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In this study eight sequence variants in the functional promoter of the human angiotensin II subtype 1 (AT1 or AGTR1) receptor gene are reported. Six of these variants are in nearly total linkage disequilibrium with each other and occur with a frequency of 15.7 %. By haplotype estimation this group of eight sequence variants is characterized by only fire haplotypes. There is no linkage disequilibrium between one of these haplotypes and the AT1 + 1166A/C variant. The finding of polymorphic sites in the functional promoter of the human 4T1 locus will be beneficial to the study of the role of the AT1 receptor gene in hypertension and other cardiovascular diseases.

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页码：369 / 374

页数：6

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