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An Atlas of Genetic Variation Linking Pathogen-Induced Cellular Traits to Human Disease.

Publication ,  Journal Article
Wang, L; Pittman, KJ; Barker, JR; Salinas, RE; Stanaway, IB; Williams, GD; Carroll, RJ; Balmat, T; Ingham, A; Gopalakrishnan, AM; Gibbs, KD ...
Published in: Cell Host Microbe
August 8, 2018

Pathogens have been a strong driving force for natural selection. Therefore, understanding how human genetic differences impact infection-related cellular traits can mechanistically link genetic variation to disease susceptibility. Here we report the Hi-HOST Phenome Project (H2P2): a catalog of cellular genome-wide association studies (GWAS) comprising 79 infection-related phenotypes in response to 8 pathogens in 528 lymphoblastoid cell lines. Seventeen loci surpass genome-wide significance for infection-associated phenotypes ranging from pathogen replication to cytokine production. We combined H2P2 with clinical association data from patients to identify a SNP near CXCL10 as a risk factor for inflammatory bowel disease. A SNP in the transcriptional repressor ZBTB20 demonstrated pleiotropy, likely through suppression of multiple target genes, and was associated with viral hepatitis. These data are available on a web portal to facilitate interpreting human genome variation through the lens of cell biology and should serve as a rich resource for the research community.

Duke Scholars

Published In

Cell Host Microbe

DOI

EISSN

1934-6069

Publication Date

August 8, 2018

Volume

24

Issue

2

Start / End Page

308 / 323.e6

Location

United States

Related Subject Headings

  • Web Browser
  • Transcription Factors
  • Risk Factors
  • Phenotype
  • Nerve Tissue Proteins
  • Inflammatory Bowel Diseases
  • Infections
  • Immunology
  • Humans
  • Hepatitis, Viral, Human
 

Citation

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Wang, L., Pittman, K. J., Barker, J. R., Salinas, R. E., Stanaway, I. B., Williams, G. D., … Ko, D. C. (2018). An Atlas of Genetic Variation Linking Pathogen-Induced Cellular Traits to Human Disease. Cell Host Microbe, 24(2), 308-323.e6. https://doi.org/10.1016/j.chom.2018.07.007
Journal cover image

Published In

Cell Host Microbe

DOI

EISSN

1934-6069

Publication Date

August 8, 2018

Volume

24

Issue

2

Start / End Page

308 / 323.e6

Location

United States

Related Subject Headings

  • Web Browser
  • Transcription Factors
  • Risk Factors
  • Phenotype
  • Nerve Tissue Proteins
  • Inflammatory Bowel Diseases
  • Infections
  • Immunology
  • Humans
  • Hepatitis, Viral, Human