Human glucocorticoid receptor alpha gene (NR3C1) pharmacogenomics: gene resequencing and functional genomics.

ABSTRACT:

Context

The human glucocorticoid receptor alpha (GRalpha) is a nuclear hormone receptor that regulates multiple physiological and pathophysiological processes. There are large variations in both physiological and therapeutic response to glucocorticoids. Multiple previous studies suggested that genetic polymorphisms in GRalpha (NR3C1) might play an important role.

Objective

The aim of the study was to identify and determine the functional implications of common genetic variation in NR3C1.

Design

We resequenced the NR3C1 gene using 240 DNA samples from four ethnic groups, followed by functional characterization of the effects of selected polymorphisms.

Results

A total of 108 polymorphisms were identified in GRalpha, including nine nonsynonymous coding single nucl

SUBMITTER: Niu N 

PROVIDER: S-EPMC2730876 | biostudies-literature | 2009 Aug

REPOSITORIES: biostudies-literature