Beyond genome wide association studies in celiac disease by exploring the non-coding genome

de Almeida, R., 2015, [S.l.]: [S.n.]. 223 p.

Research output: ThesisThesis fully internal (DIV)

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  • Title and contents

    Final publisher's version, 411 KB, PDF document

  • Chapter 1

    Final publisher's version, 1.13 MB, PDF document

  • Chapter 2

    Final publisher's version, 4.54 MB, PDF document

  • Chapter 3

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  • 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

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  • Appendices

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  • Complete dissertation

    Final publisher's version, 8.9 MB, PDF document

  • Propositions

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  • Rodrigo de Almeida
Celiac disease is the most prevalent food intolerance known. Individuals suffering from celiac disease develop a severe intestinal inflammation in response to gluten proteins that are present in the grains that form the basis of the Western diet. Although the incidence of celiac disease is 1%, it is thought that only 1 in 8 celiac patients is, in fact, diagnosed correctly. The only treatment for celiac disease is a life-long, gluten-free diet. Compliance is difficult and significantly affects the patient’s overall quality of life. This all means there is an urgent need to gain a better understanding of celiac disease and its mechanisms, which we hope will lead to the development of better diagnostic tools and/or treatment options.
Recent studies have identified 40 regions in the human genome that predispose to the development of celiac disease. In this thesis, I applied statistical genetics and pathway analysis methods to gain a better understanding of how the predisposing genetic factors contribute to celiac disease. I prioritize functional variants, genes and pathways affected in celiac disease, including a long non-coding RNA that is regulated by a celiac-associated genetic variant.
An exciting development is that circulating micro-RNA molecules have been identified as a new class of biomarkers for immune-mediated diseases. I found microRNAs candidates that can be used as novel biomarkers for celiac disease development and to monitor a patient’s adherence to the gluten-free diet. These biomarkers can be developed into useful clinical tests.
Translated title of the contributionDe volgende stap na genoom-wijde associatie studies: de rol van het niet-coderende genoom
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
Award date25-Mar-2015
Place of Publication[S.l.]
Print ISBNs978-90-367-7718-6
Electronic ISBNs978-90-367-7760-5
Publication statusPublished - 2015

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