Extensive Association of Common Disease Variants with Regulatory Sequence
- Mokry, Michal
- Harakalova, Magdalena
- Asselbergs, Folkert W
- de Bakker, Paul I W
- Nieuwenhuis, Edward E S
DOIAbstract
Overlap between non-coding DNA regulatory sequences and common variant associations can help to identify specific cell and tissue types that are relevant for particular diseases. In a systematic manner, we analyzed variants from 94 genome-wide association studies (reporting at least 12 loci at p<5x10-8) by projecting them onto 466 epigenetic datasets (characterizing DNase I hypersensitive sites; DHSs) derived from various adult and fetal tissue samples and cell lines including many biological replicates. We were able to confirm many expected associations, such as the involvement of specific immune cell types in immune-related diseases and tissue types in diseases that affect specific organs, for example, inflammatory bowel disease and coron...
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