Molecular scanning of the gene for programmed cell death-1 (PDCD-1) as a candidate for type 1 diabetes susceptibility

Ann N Y Acad Sci. 2006 Oct:1079:285-8. doi: 10.1196/annals.1375.043.

Abstract

Multiple genes are involved in the susceptibility to autoimmune type 1 diabetes. The immunoreceptor programmed cell death-1 (PDCD-1), an inhibitory costimulatory molecule regulating peripheral tolerance, was reported to play a role in the development of type 1 diabetes, making the human PDCD-1 gene, PDCD1, as a candidate for disease susceptibility. In this article, we sequenced all 5 exons and exon-intron junctions of PDCD1 in Japanese subjects, and found 10 sequence variants. Preliminary data suggested no association of these polymorphisms with type 1 diabetes. These sequence variants are valuable for further studies to clarify contribution of PDCD1 to susceptibility to type 1 diabetes.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Antigens, CD / genetics*
  • Apoptosis Regulatory Proteins / genetics*
  • Autoimmune Diseases / genetics
  • Autoimmunity / genetics
  • Base Sequence
  • Case-Control Studies
  • Diabetes Mellitus, Type 1 / genetics*
  • Disease Susceptibility*
  • Exons
  • Genetic Variation
  • Humans
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Programmed Cell Death 1 Receptor
  • Sequence Analysis, DNA

Substances

  • Antigens, CD
  • Apoptosis Regulatory Proteins
  • PDCD1 protein, human
  • Programmed Cell Death 1 Receptor