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Degree Project in Molecular Biotechnology

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Degree Project in Molecular Biotechnology

Masters Programme in Molecular Biotechnology Engineering, Uppsala University School of Engineering

UPTEC X 15 033

Date of issue 2015-10

Author

Agnes Andersson Svärd

Title (English)

Peripheral blood cell HLA class II gene expression in children at genetic risk for type 1 diabetes and coeliac disease

Title (Swedish) Abstract

Differential expression of HLA-DQ heterodimers on a blood mononuclear cell subset is associated with organ-specific autoimmune disease. HLA-DQ genotypes on chromosome 6 are strongly related to increased risk of developing autoimmune diseases such as type 1 diabetes, and coeliac disease. Peripheral blood subsets from children at increased genetic risk for type 1 diabetes (HLA-DQ2/8; DQ8/8; DQ8/X (X is not 6.2); DQ2/2) or coeliac disease (HLA-DQ2/2; DQ2/8) with and without islet cell autoantibody markers (GADA, IAA, IA-2A, and ZnT8 (W, R, Q)A) were investigated for HLA-DQA1, B1, A2 and B2 gene expression.

High HLA-DQ cell surface immunofluorescence was observed in B cells and CD14+CD16- APC. HLA-DQA1 is expressed in CD14+CD16- APCs and B cells. The results indicate that RQ of HLA-DQA1 tended to be lower in CD14+CD16- APCs in subjects with more than two islet autoantibodies.

Keywords

Type 1 diabetes, islet autoantibodies, HLA, HLA-DQ, B cells, CD14+CD16- APCs, flow cytometry, gene expression

Supervisors

Professor Åke Lernmark

Department of diabetes and coeliac disease, Lund University

Scientific reviewer

Professor Ulf Gyllensten

Human genomics and molecular epidemiology, Uppsala University

Project name Sponsors

Language

English

Security

ISSN 1401-2138 Classification

Supplementary bibliographical information Pages

35

Biology Education Centre Biomedical Center Husargatan 3, Uppsala Box 592, S-751 24 Uppsala Tel +46 (0)18 4710000 Fax +46 (0)18 471 4687

References

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