Interferon-γ receptor 1 promoter polymorphisms: Population distribution and functional implications

Sergio D. Rosenzweig, Alejandro A. Schäffer, Li Ding, Rachel Sullivan, Balasz Enyedi, Jae Joon Yim, James L. Cook, James M. Musser, Steven M. Holland

Research output: Contribution to journalArticle

36 Scopus citations

Abstract

Different polymorphisms have been described in the minimal promoter region (MPR) of the interferon-γ receptor 1 (IFNGR1), a molecule that plays a critical role in mycobacterial control. We sequenced the IFNGR1 MPR from African American, Caucasian and Korean controls, and from mycobacteria-infected patients. Six different single nucleotide polymorphisms (SNPs) were detected in the IFNGR1 MPR. The three ethnic groups showed different SNP distribution patterns, but no significant differences were detected between mycobacterial cases and controls. Two polymorphisms were found in all populations (G-611A, T-56C). We cloned the four allelic variants (var) of haplotype G-611A/T-56C into a luciferase reporter vector and determined their promoter activity. Polymorphisms at position -611 had a stronger effect on the promoter activity than those at position -56, and constructs carrying G-611 produced a stronger promoter activity than -611A constructs. The IFNGR1 MPR is a polymorphic region with at least two SNPs influencing its activity, but these are not associated with increased mycobacterial susceptibility.

Original languageEnglish (US)
Pages (from-to)113-119
Number of pages7
JournalClinical Immunology
Volume112
Issue number1
DOIs
StatePublished - Jul 2004

Keywords

  • Avium
  • Disseminated
  • Haplotype
  • Mycobacteria
  • Pulmonary
  • Single nucleotide polymorphisms

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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