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Updated: Jul 18, 2026

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)
Published on: April 19, 2013
Molecular scanning of the gene for programmed cell death-1 (PDCD-1) as a candidate for type 1 diabetes susceptibility
Yoshihisa Hiromine1, Hiroshi Ikegami, Tomomi Fujisawa
1Department of Endocrinology, Metabolism and Diabetes, Kinki University School of Medicine, 377-2 Ohno-higashi, Osaka-Sayama, Osaka 589-8511, Japan.
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.
Insights
Researchers investigated the PDCD1 gene
Area of Science:
- Immunology
- Genetics
Background:
- Autoimmune type 1 diabetes involves multiple genes.
- Programmed cell death-1 (PDCD-1) regulates peripheral tolerance and may influence type 1 diabetes development.
- The human PDCD1 gene is a candidate for type 1 diabetes susceptibility.
Purpose of the Study:
- To sequence the human PDCD1 gene in Japanese subjects.
- To identify sequence variants within the PDCD1 gene.
- To investigate the association of PDCD1 polymorphisms with type 1 diabetes susceptibility.
Main Methods:
- Sequencing of all 5 exons and exon-intron junctions of the PDCD1 gene.
- Analysis of sequence variants in Japanese individuals.
- Preliminary association study with type 1 diabetes.
Main Results:
- Ten sequence variants were identified in the PDCD1 gene.
- Preliminary data indicated no association between these PDCD1 polymorphisms and type 1 diabetes.
- The identified variants provide a resource for future research.
Conclusions:
- The studied PDCD1 sequence variants do not appear to be associated with type 1 diabetes in the Japanese population.
- Further research is needed to fully elucidate the role of PDCD1 in type 1 diabetes pathogenesis.
- The identified variants are valuable for future genetic studies of type 1 diabetes.
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