Promoter polymorphism of SLC11A1 (formerly NRAMP1) confers susceptibility to autoimmune type 1 diabetes mellitus in Japanese

K. Takahashi, J. Satoh, Y. Kojima, K. Negoro, M. Hirai, Y. Hinokio, Y. Kinouchi, S. Suzuki, N. Matsuura, T. Shimosegawa, Y. Oka

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32 Citations (Scopus)


Defective function of antigen-presenting cells has been postulated to be one of the non-HLA-linked susceptibility factors for type 1 diabetes mellitus, though the underlying genetic factors remain unclear. SLC11A1 (formerly NRAMP1), a divalent cation transporter, plays a crucial role in macrophage activation. We performed a case-control study in 224 healthy and 95 type 1 diabetic Japanese subjects, examining the length polymorphisms in the promoter region (-377 to -222) of SLC11A1, which may influence transcriptional activity. Alleles designated 2, 3, and 7 have been identified in Japanese subjects. The frequency of allele 7 was significantly higher in subjects with type 1 diabetes (9.47%) than in the healthy controls (4.46%). The difference is more marked in the subpopulation of Japanese subjects with type 1 diabetes; diabetic subjects with at least one protective HLA class II allele and those without any susceptibility HLA class II haplotypes, DR4-DQ4 or DR9-DQ9, had a much higher allele 7 frequency than controls. These findings suggest that the novel promoter polymorphism of SLC11A1 influences the susceptibility to type 1 diabetes in Japanese subjects.

Original languageEnglish
Pages (from-to)231-236
Number of pages6
JournalTissue Antigens
Issue number3
Publication statusPublished - 2004 Mar


  • Antigen-presenting cells
  • Insulin-dependent diabetes mellitus
  • Macrophage activation
  • Macrophages
  • Natural resistance
  • Polymorphism
  • SLC11A1

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Biochemistry
  • Genetics


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