University of Groningen
Towards finding and understanding the missing heritability of immune-mediated diseases
Ricaño Ponce, Isis
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Publication date: 2019
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Ricaño Ponce, I. (2019). Towards finding and understanding the missing heritability of immune-mediated diseases. Rijksuniversiteit Groningen.
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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.
