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T cell receptor beta chain polymorphisms are associated with insulin-dependent diabetes
B A Millward1, K I Welsh, R D Leslie
1Department of Molecular Immunogenetics and Tissue Typing, Guy's Hospital, London, UK.
Clinical and Experimental Immunology
|October 1, 1987
Summary
Insulin-dependent diabetes mellitus (IDDM) patients show a significant association with specific T cell receptor constant beta chain (TCR C beta) gene variations. This finding highlights a potential genetic marker for IDDM susceptibility.
Area of Science:
- Immunogenetics
- Molecular Biology
- Endocrinology
Background:
- Insulin-dependent diabetes mellitus (IDDM) is an autoimmune disease with a complex genetic component.
- T cell receptor (TCR) genes play a crucial role in immune system regulation and are implicated in autoimmune disorders.
Purpose of the Study:
- To investigate the association between T cell receptor constant beta chain (TCR C beta) gene polymorphisms and IDDM.
- To identify potential genetic markers for IDDM susceptibility.
Main Methods:
- DNA restriction fragment length polymorphism (RFLP) analysis was performed on genomic DNA from IDDM patients and healthy controls.
- Southern blot procedure and Bg1 II endonuclease digestion were used to identify polymorphic sites within TCR C beta genes.
Main Results:
- A highly significant increase in the frequency of the 10.0; 9.2 kilobase heterozygous phenotype was observed in IDDM patients (62.7%) compared to controls (42.0%).
- This association was particularly pronounced in IDDM-concordant identical twin pairs, further supporting a genetic link.
Conclusions:
- The study identifies a significant association between specific TCR C beta gene polymorphisms and IDDM.
- These findings suggest that TCR C beta gene variations may contribute to IDDM susceptibility.