Novel genetic polymorphisms in the NR3C1 (glucocorticoid receptor) gene in a Japanese population.
Glucocorticoid receptor, encoded by NR3C1, is a transcriptional regulator of many drug metabolizing enzymes and anti-inflammatory molecules. In order to identify genetic variations of the NR3C1 gene, genomic DNA from 265 Japanese individuals was sequenced. Fifty genetic polymorphisms were identified, including 32 novel ones [3 were in coding exons, 17 in the introns, 4 in the 5'-untranslated region (UTR), and 8 in the 5'-flanking region]. The novel nonsynonymous variation was 420G>T (Lys140Asn), and the allele frequency was 0.004. We did not detect any nonsynonymous polymorphism reported previously in other races, including a relatively frequent SNP Asn363Ser found in Caucasians and African-Americans. Thus, ethnic differences between Japanese and other races are suggested to exist in NR3C1.
Koyano
Satoru
S
Project Team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan. skoyano@nihs.go.jp
Saito
Yoshiro
Y
Sai
Kimie
K
Kurose
Kouichi
K
Ozawa
Shogo
S
Nakajima
Toshiharu
T
Matsumoto
Kenji
K
Saito
Hirohisa
H
Shirao
Kuniaki
K
Yoshida
Teruhiko
T
Minami
Hironobu
H
Ohtsu
Atsushi
A
Saijo
Nagahiro
N
Sawada
Jun-ichi
J
D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D006801:Humans; D007438:Introns; D007564:Japan; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011965:Receptors, Glucocorticoid / Q000235:genetics*
D017931:DNA Primers; C497713:NR3C1 protein, human; D011965:Receptors, Glucocorticoid