Publication

HLA and other tales: The different perspectives of Celiac Disease

Gutierrez Achury, H. J. 2015 [Groningen]: University of Groningen. 219 p.

Research output: ThesisThesis fully internal (DIV)

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Documents

  • Title and contents

    Final publisher's version, 239 KB, PDF-document

  • Chapter 1

    Final publisher's version, 2 MB, PDF-document

  • Chapter 2

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  • Chapter 3

    Final publisher's version, 5 MB, PDF-document

  • Chapter 3.1

    Final publisher's version, 7 MB, PDF-document

  • Chapter 4

    Final publisher's version, 1 MB, PDF-document

  • Corrigendum chapter 4

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  • Chapter 5

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  • Chapter 6

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  • Chapter 7

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  • Chapter 8

    Final publisher's version, 4 MB, PDF-document

  • Appendices

    Final publisher's version, 8 MB, PDF-document

  • Complete thesis

    Final publisher's version, 48 MB, PDF-document

  • Propositions

    Final publisher's version, 111 KB, PDF-document

  • Henry Javier Gutierrez Achury
Autoimmune diseases (AID) are the result of an imbalance in the immune response that leads to the destruction of cells and tissues. The understanding of these diseases through the perspective of human genetics has provided enormous insights due to the development of new technologies and new methods of analysis.

We describe a detailed analysis of the MHC-HLA locus, a region with a pivotal role in normal and pathogenic processes. With the use of new analytical methods, we demonstrate the independent association of new variants in regions outside those classically related to celiac disease (CeD) and additionally estimate a high genetic variance explained by the MHC-HLA region (~25%). This study demonstrates an outstanding challenge analyzing it.

We also analyzed the genetic associations in a population of South-Asian origin. With this analysis it was possible to demonstrate the importance of new large-scale analysis in non-European population in order to gain new insights into the biology of the complex traits.
We analyzed CeD together with of two related AID, type 1 diabetes (T1D) and rheumatoid arthritis (RA). In our analysis we found that double autoimmune (CeD+T1D) individuals posses more resemblance with the genetic factors predisposing to T1D, especially for the association in the MHC-HLA region. From the analysis of CeD and RA, it was interesting the identification of loci with a unique characteristic: even when the variants associated to CeD and RA were located in the same region, they were driving independent genetic effects and different biological downstream effects on gene expression.
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
Supervisors/Advisors
Award date2-Dec-2015
Place of Publication[Groningen]
Publisher
Print ISBNs978-90-367-8348-4
Electronic ISBNs978-90-367-8349-1
StatePublished - 2015

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