Ricaño Ponce, Isis

University of Groningen

   University of GroningenTowards finding and  understanding the missing  heritability of  immune-mediated diseasesRicaño Ponce, IsisIMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish to cite fromit. Please check the document version below.Document VersionPublisher's PDF, also known as Version of recordPublication date:2019Link to publication in University of Groningen/UMCG research databaseCitation for published version (APA):Ricaño Ponce, I. (2019). Towards finding and  understanding the missing  heritability of  immune-mediateddiseases. [Groningen]: Rijksuniversiteit Groningen.CopyrightOther than for strictly personal use, it is not permitted to download or to forward/distribute the text or part of it without the consent of theauthor(s) and/or copyright holder(s), unless the work is under an open content license (like Creative Commons).Take-down policyIf you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediatelyand investigate your claim.Downloaded from the University of Groningen/UMCG research database (Pure): http://www.rug.nl/research/portal. For technical reasons thenumber of authors shown on this cover page is limited to 10 maximum.Download date: 13-11-2019 Towards finding and understanding the missing heritability of immune-mediated disease    1. Disease-associated variants identified by GWAS are mainly located in regulatory regions and alter gene expression. 2. Although the same physical regions are associated to multiple immune- mediated diseases, the associated SNPs and affected genes might be different. 3. It is necessary to perform genome-wide analysis for immune-mediated diseases as the recent association analysis focused only on regions covered by the Immunochip. 4. The gene closest to a genetically associated variant is not always the causal gene. 5. The identification of new loci associated to celiac disease led to the identification of novel pathways. 6. The combination of multiple layers of omics information is crucial for interpretation and clinical translation of GWAS results. 7. The collection of different types of patient biomaterials is essential to generate other kinds of omics-data. 8. It is important to perform validation studies using multiple disease- relevant cell types and appropriate perturbations over time to capture interactions between non-coding RNAs and protein-coding genes. 9. An inheritance model that incorporates epigenetic inheritance, interaction among loci and gene-environment interactions in addition to genetic effects would help to explain the missing heritability. 10. The challenge for studying common complex diseases is no longer generating the data, but rather collecting as much phenotypic information as possible in order to link the genetic variants with a wide array of phenotypes. 11. The genome can be compared to a piano with 25,000 keys. In some cases, a few keys may be out of tune, which can cause the music to sound wrong. In others, if one key goes dead the music turns into a cacophony,  or the whole piano self-destructs. 12. Your genetics is not your destiny. 13. Somewhere, something incredible is waiting to be known.  Richard Preston George M. Church Carl Sagan 

Towards finding and understanding the missing heritability of immune-mediated diseases

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Towards finding and understanding the missing heritability of immune-mediated diseases

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