ArticlePloS one2016
Phenome-Wide Association Study to Explore Relationships between Immune System Related Genetic Loci and Complex Traits and Diseases.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Red flags to suspect inborn errors of immunity in patients with autoimmune diseasesBiomedica : revista del Instituto Nacional de Salud · 2024Pooled it
- From IL-6 production to IL-6R buffering: a unified IL-6-IL-6R framework for immune homeostasis during viral infection.Frontiers in immunology · 2026Review
- Exploring beyond diagnoses in electronic health records to improve discovery: a review of the phenome-wide association study.JAMIA open · 2025Review
- Electronic Medical Record-Based Case Phenotyping for the Charlson Conditions: Scoping Review.JMIR medical informatics · 2021Article
- Automated Phenotyping Tool for Identifying Developmental Language Disorder Cases in Health Systems Data (APT-DLD): A New Research Algorithm for Deployment in Large-Scale Electronic Health Record Systems.Journal of speech, language, and hearing research : JSLHR · 2020Article
- A Comprehensive Genome-Wide and Phenome-Wide Examination of BMI and Obesity in a Northern Nevadan Cohort.G3 (Bethesda, Md.) · 2020Article
- Phenome-wide functional dissection of pleiotropic effects highlights key molecular pathways for human complex traits.Scientific reports · 2020Article
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- PheProb: probabilistic phenotyping using diagnosis codes to improve power for genetic association studies.Journal of the American Medical Informatics Association : JAMIA · 2018Article
- PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.American journal of human genetics · 2018Article
- A simulation study investigating power estimates in phenome-wide association studies.BMC bioinformatics · 2018Article
- Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.Science (New York, N.Y.) · 2018Article
- Informatics and machine learning to define the phenotype.Expert review of molecular diagnostics · 2018Review
- Current Scope and Challenges in Phenome-Wide Association Studies.Current epidemiology reports · 2017Article
- Phenome-Wide Association Studies: Leveraging Comprehensive Phenotypic and Genotypic Data for Discovery.Current genetic medicine reports · 2015Article
- Contrasting Association Results between Existing PheWAS Phenotype Definition Methods and Five Validated Electronic Phenotypes.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2015Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
We performed a Phenome-Wide Association Study (PheWAS) to identify interrelationships between the immune system genetic architecture and a wide array of phenotypes from two de-identified electronic health record (EHR) biorepositories. We selected variants within genes encoding critical factors in the immune system and variants with known associations with autoimmunity. To define case/control status for EHR diagnoses, we used International Classification of Diseases, Ninth Revision (ICD-9) diagnosis codes from 3,024 Geisinger Clinic MyCode® subjects (470 diagnoses) and 2,899 Vanderbilt University Medical Center BioVU biorepository subjects (380 diagnoses). A pooled-analysis was also carried out for the replicating results of the two data sets. We identified new associations with potential biological relevance including SNPs in tumor necrosis factor (TNF) and ankyrin-related genes associated with acute and chronic sinusitis and acute respiratory tract infection. The two most significant associations identified were for the C6orf10 SNP rs6910071 and "rheumatoid arthritis" (ICD-9 code category 714) (pMETAL = 2.58 x 10-9) and the ATN1 SNP rs2239167 and "diabetes mellitus, type 2" (ICD-9 code category 250) (pMETAL = 6.39 x 10-9). This study highlights the utility of using PheWAS in conjunction with EHRs to discover new genotypic-phenotypic associations for immune-system related genetic loci.
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Registered trials
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