Functional annotation of noncoding causal variants in autoimmune diseases

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Interpretation of noncoding disease variants, which comprise the vast majority of Genome-wide association studies (GWAS) hits, remains a momentous challenge due to haplotype structure and our limited understanding of the mechanisms and physiological contexts of noncoding elements. GWAS have identified loci underlying human diseases, but assigning the causal nucleotide changes still remain a controversial issue. Here we addressed these issues through the combination of high-density genotyping and epigenomic data using a random forest model to discover the noncoding causal variants. Focusing on autoimmune diseases, we triaged putative causal variants for atopic dermatitis and inflammatory bowel diseases. Making a filtering pipeline, we found three interesting single nucleotide polymorphisms (rs1800630, rs1799964 and rs4796793) in the upstream site of TNF and STAT3 genes, two frequent genes shared in some autoimmune diseases, and show how those variants affect on TNF and STAT3 expression levels. All data and source codes related to this manuscript are available at https://github.com/jieunjung511/Autoimmune-research.
Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
Issue Date
2020-03
Language
English
Article Type
Article
Citation

GENOMICS, v.112, no.2, pp.1208 - 1213

ISSN
0888-7543
DOI
10.1016/j.ygeno.2019.07.006
URI
http://hdl.handle.net/10203/272361
Appears in Collection
BiS-Journal Papers(저널논문)
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