Immunogenetics

, Volume 55, Issue 3, pp 177–181

Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea

  • Seong-Beom Lee
  • Byoung Chul Kim
  • Song Hou Jin
  • Yong-Gyu Park
  • Se-Kon Kim
  • Tae-Jin Kang
  • Gue-Tae Chae
Brief Communication

DOI: 10.1007/s00251-003-0573-x

Cite this article as:
Lee, S., Kim, B.C., Jin, S.H. et al. Immunogenetics (2003) 55: 177. doi:10.1007/s00251-003-0573-x

Abstract

Interleukin-12 receptor beta 1 (IL12RB1), interleukin-12 receptor beta 2 (IL12RB2), and interferon gamma receptor 1 (IFNGR1) perform important roles in the host defense against intracellular pathogens such as Mycobacteria. Several mutations within their genes have been confirmed as associated with increased susceptibility to mycobacterial infection. However, the association between mutations of the IL12RB1, IL12RB2, and IFNGR1 encoding genes and lepromatous leprosy has not been studied. This study screened for polymorphisms within IL12RB1, IL12RB2, and IFNGR1 encoding genes in the Korean populations using polymerase chain reaction (PCR)/single-strand conformation polymorphism (SSCP) DNA sequencing assay, and an association study was performed using the missense mutations of 705 A/G (Q214R), 1196 G/C (G378R), 1637 G/A (A525T), and 1664 C/T (P534S) of the IL12RB1, 83 G/A (V14M), and 1443 T/C (L467P) for the IFNGR1 encoding genes. There were no differences in the genotype and allele frequencies of IL12RB1 and IFNGR1 genes between 93 lepromatous leprosy patients and 94 control subjects. In conclusion, missense mutations of 705 A/G (Q214R), 1196 G/C (G378R), 1637 G/A (A525T), 1664 C/T (P534S) of the IL12RB1, 83 G/A (V14 M), and 1443 T/C (L467P) of the IFNGR1 encoding genes have no association with the susceptibility to lepromatous leprosy in the Korean population.

Keywords

Interferon-gamma receptor 1Interleukin-12 receptor beta 1Interleukin-12 receptor beta 2Lepromatous leprosyMissense mutation

Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • Seong-Beom Lee
    • 2
  • Byoung Chul Kim
    • 2
  • Song Hou Jin
    • 2
  • Yong-Gyu Park
    • 3
  • Se-Kon Kim
    • 2
    • 2
  • Tae-Jin Kang
    • 2
  • Gue-Tae Chae
    • 1
    • 2
  1. 1.Institute of Hansen's disease, Department of Pathology, College of MedicineThe Catholic University of KoreaSeoulKorea
  2. 2.Institute of Hansen's disease, Department of Pathology, College of MedicineThe Catholic University of KoreaSeoulKorea
  3. 3.Department of Biostatistics, College of MedicineThe Catholic University of KoreaSeoulKorea