A mutation of the glucocorticoid receptor gene in patients with systematic lupus erythematosus

Young Moo Lee, Junko Fujiwara, Yasuhiko Munakata, Tomonori Ishii, Akira Sugawara, Mitsuo Kaku, Shoichi Kokubun, Takeshi Sasaki, Tadao Funato

Research output: Contribution to journalArticlepeer-review

18 Citations (Scopus)

Abstract

We screened for mutations of the glucocorticoid receptor (GR) gene in patients with systemic lupus erythematosus (SLE), a typical autoimmune disease. Polymerase chain reaction-single-strand conformation polymorphism analysis (PCR-SSCP) revealed a single mutation in exon 9 of the GR gene in 11/132 (8.3%) among 66 patients with SLE. No mutations were detected in 52 healthy individuals (0/104, 0.0%), but the same mutation was detected in other autoimmne diseases (4/108, 3.7%). DNA sequencing showed a T to C substitution at codon 766 (position 2430) of the GR gene, which does not alter the amino acid sequence of the GR. Further analysis using a LightCycler generated different melting curves indicates that the pattern with this mutation is different from that of wild type. The identified mutation of the GR gene may represent a polymorphism associated with SLE.

Original languageEnglish
Pages (from-to)69-76
Number of pages8
JournalTohoku Journal of Experimental Medicine
Volume203
Issue number2
DOIs
Publication statusPublished - 2004 Jun

Keywords

  • Glucocorticoid receptor (GR)
  • LightCycler
  • Mutation
  • Polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP)
  • Systemic lupus erythematosus (SLE)

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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