Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants
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Numerous associations were discovered between human leukocyte antigen (HLA) variation and a comprehensive set of phenotypes derived from electronic health records.
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The associated diseases include a large number of traits queried from an HLA-specific Phewas, including neurological diseases and diseases with risk factors for Alzheimer's disease, pointing to potential shared and/or interacting mechanisms and co-morbidities.
“the associated diseases include a large number of traits queried from an HLA-specific Phewas111, including neurological diseases (for example, Parkinson’s disease112,113) and diseases with risk factors for Alzheimer’s disease (for example, hyperthyroidism114), pointing to potential shared and/or interacting mechanisms and co-morbidities”
From Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) · cites this paper as [111]
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- [14]Denny JC Bastarache L Ritchie MD Carroll RJ Zink R Mosley JD Field JR Pulley JM Ramirez AH Bowton E Basford MA Carrell DS Peissig PL Kho AN Pacheco JA Rasmussen LV Crosslin DR Crane PK Pathak J Bielinski SJ Pendergrass SA Xu H Hindorff LA Li R Manolio TA Chute CG Chisholm RL Larson EB Jarvik GP Brilliant MH McCarty CA Kullo IJ Haines JL Crawford DC Masys DR Roden DM Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data Nature biotechnology 31 1102 1111 2013 PMC3969265 24270849
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Alzheimer Disease Genetics Consortium (ADGC), Kunkle, B. W., The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), Genetic and Environmental Risk in AD/Defining Genetic, P. A. E. R. F. A. D. C. (., Grenier-Boley, B., Sims, R., Bis, J. C., Damotte, V., Naj, A. C., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0358-2 · Cited by 2,946 · see citing works
- Authors
- Karnes, J. H., Bastarache, L., Shaffer, C. M., Gaudieri, S., Xu, Y., Glazer, A. M., Mosley, J. D., Zhao, S., Raychaudhuri, S., Mallal, S., Ye, Z., Mayer, J. G., Brilliant, M. H., Hebbring, S. J., Roden, D. M., Phillips, E. J., & Denny, J. C.
- Affiliations
- University of Arizona (US)
- Vanderbilt University (US)
- Murdoch University (AU)
- Broad Institute (US)
- Marshfield Clinic Research Foundation (US)
- Corresponding author
- Karnes, Jason H.
- Bastarache, Lisa
- Denny, Joshua C.
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2017-05-10
- Volume
- 9
- Issue
- 389
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC5563969
- OpenAlex
- W2613818970
- Cited by
- 126
- References
- 66
- Citations by year
- 2026: 7 · 2025: 10 · 2024: 14 · 2023: 10 · 2022: 15 · 2021: 20 · 2020: 16 · 2019: 14 · 2018: 17 · 2017: 3
- FWCI
- 9.08
- Type
- journal article
- Language
- en
- Open access
- Locations
- Science Translational Medicine (publishedVersion)
- UWA Profiles and Research Repository (UWA) (publishedVersion, other-oa)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Murdoch University Research Portal (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Funders
- National Institutes of Health (award297348, ULTR000445, R01LM010685, UL1TR000427, 1U01HG006389, 1R01GM114128, 1K22LM011938, 5U01GM092691,1R01AR062886-01)
- American Heart Association (award297349, 16SDG29090005, 15POST22660017)
- American College of Clinical Pharmacy Research Institute (award297350, Futures Grant)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Keywords
- HLA variants, phenome-wide association study, non-synonymous mutations, type 1 diabetes, HLA alleles, HLA and disease association
- MeSH terms
- Alleles, Histocompatibility Antigens Class II, Diabetes Mellitus, Type 1, Humans, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study, HLA-DQ beta-Chains
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