日本人群中NR3C1（糖皮质激素受体）基因的新型遗传多态性。
Novel genetic polymorphisms in the NR3C1 (glucocorticoid receptor) gene in a Japanese population.
作者信息
Koyano Satoru, Saito Yoshiro, Sai Kimie, Kurose Kouichi, Ozawa Shogo, Nakajima Toshiharu, Matsumoto Kenji, Saito Hirohisa, Shirao Kuniaki, Yoshida Teruhiko, Minami Hironobu, Ohtsu Atsushi, Saijo Nagahiro, Sawada Jun-ichi
机构信息
Project Team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan.
出版信息
Drug Metab Pharmacokinet. 2005 Feb;20(1):79-84. doi: 10.2133/dmpk.20.79.
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.
由NR3C1编码的糖皮质激素受体是许多药物代谢酶和抗炎分子的转录调节因子。为了鉴定NR3C1基因的遗传变异，对265名日本个体的基因组DNA进行了测序。共鉴定出50个基因多态性，其中包括32个新的多态性位点[3个位于编码外显子，17个位于内含子，4个位于5'非翻译区（UTR），8个位于5'侧翼区]。新的非同义变异为420G>T（Lys140Asn），等位基因频率为0.004。我们未检测到先前在其他种族中报道的任何非同义多态性，包括在白种人和非裔美国人中发现的相对常见的单核苷酸多态性Asn363Ser。因此，提示日本人和其他种族在NR3C1基因上存在种族差异。
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