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Association of Lys173Arg polymorphism with CYP11B2 expression in normal adrenal glands and aldosterone-producing adenomas.

Hiromichi H Tanahashi, Tomoatsu T Mune, Yoshito Y Takahashi, Mako M Isaji, Tetsuya T Suwa, Hiroyuki H Morita, Noriyoshi N Yamakita, Keigo K Yasuda, Takashi T Deguchi, Perrin C PC White, and Jun J Takeda

J Clin Endocrinol Metab 90(11):6226-31 (2005) PMID 16118341

CYP11B2, the gene encoding aldosterone synthase, has several frequent polymorphisms. In particular, the Lys173Arg (K173R) polymorphism is in complete genetic linkage disequilibrium with the -344T/C polymorphism in the promoter of CYP11B2 that involves a binding site for the steroidogenic factor-1 transcription factor. These polymorphisms have been associated with cardiovascular parameters, including hypertension, but not directly with gene expression.

DOI: 10.1210/jc.2005-0299
Version: za2963e q8za1 q8zb6 q8zc4 q8zd2 q8ze8 q8zf2 q8zgd

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