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

Tissue Antigens. 2004 Mar;63(3):231-6. doi: 10.1111/j.1399-0039.2004.000172.x.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Case-Control Studies
  • Cation Transport Proteins / genetics*
  • Child
  • Child, Preschool
  • Diabetes Mellitus, Type 1 / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • HLA-DQ Antigens / genetics
  • HLA-DR Antigens / genetics
  • Haplotypes / genetics
  • Humans
  • Infant
  • Japan
  • Male
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic / genetics*

Substances

  • Cation Transport Proteins
  • HLA-DQ Antigens
  • HLA-DR Antigens
  • natural resistance-associated macrophage protein 1