title: Novel genetic polymorphisms in the NR3C1 (glucocorticoid receptor) gene in a Japanese population.
abstract: 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.
authors.affiliation: Project Team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan. skoyano@nihs.go.jp
authors.forename: Satoru
authors.initials: S
authors.lastname: Koyano
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Saito
authors.forename: Kimie
authors.initials: K
authors.lastname: Sai
authors.forename: Kouichi
authors.initials: K
authors.lastname: Kurose
authors.forename: Shogo
authors.initials: S
authors.lastname: Ozawa
authors.forename: Toshiharu
authors.initials: T
authors.lastname: Nakajima
authors.forename: Kenji
authors.initials: K
authors.lastname: Matsumoto
authors.forename: Hirohisa
authors.initials: H
authors.lastname: Saito
authors.forename: Kuniaki
authors.initials: K
authors.lastname: Shirao
authors.forename: Teruhiko
authors.initials: T
authors.lastname: Yoshida
authors.forename: Hironobu
authors.initials: H
authors.lastname: Minami
authors.forename: Atsushi
authors.initials: A
authors.lastname: Ohtsu
authors.forename: Nagahiro
authors.initials: N
authors.lastname: Saijo
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Sawada
mesh_terms: 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*
chemical_list: D017931:DNA Primers; C497713:NR3C1 protein, human; D011965:Receptors, Glucocorticoid