ArticleJournal of medical genetics2016
Phenome-wide association study maps new diseases to the human major histocompatibility complex region.
Article in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Time-Dependent Changes in Salivary Antioxidants After 5-ALA Photodynamic Therapy vs. Clobetasol in Oral Lichen Planus: A Randomized Clinical Trial.International journal of molecular sciences · 2025Trial
- Histone H1 variants regulate neurodevelopmental transcriptional programs in autism with 16p11.2 deletion.Genome biology · 2026Article
- Integrated Host Genetics and Skin Microbiome Profiling Suggest an HLA-C-Peptostreptococcus Axis in Psoriasis.International journal of molecular sciences · 2026Article
- DNA methylation signatures associated with early-onset schizophrenia in Chinese patients.Translational psychiatry · 2026Article
- Article
- Efficacy of Dupilumab in a Young Woman with Refractory Cutaneous Lichen Planus: A Case-Based Review.Diseases (Basel, Switzerland) · 2025Review
- Lichen Planus: What is New in Diagnosis and Treatment?American journal of clinical dermatology · 2024Review
- Significant Correlation Between Cutaneous Abundance of Streptococcus and Psoriasis Severity in Patients with FBXL19 Gene Variants.Acta dermato-venereologica · 2024Article
- Phenome-wide association study on miRNA-related sequence variants: the UK Biobank.Human genomics · 2023Article
- Comprehensive Insight into Lichen Planus Immunopathogenesis.International journal of molecular sciences · 2023Review
- Estimating the efficacy of pharmacogenomics over a lifetime.Frontiers in medicine · 2023Article
- pyPheWAS: A Phenome-Disease Association Tool for Electronic Medical Record Analysis.Neuroinformatics · 2022Article
- Lichen Planus.Frontiers in medicine · 2021Review
- Targeted RNA-Based Oxford Nanopore Sequencing for Typing 12 Classical HLA Genes.Frontiers in genetics · 2021Article
- Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation.JMIR medical informatics · 2019Article
- Genomic and Phenomic Research in the 21st Century.Trends in genetics : TIG · 2019Review
- 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
- Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.Annals of the American Thoracic Society · 2018Observational
- Statistical methods to detect pleiotropy in human complex traits.Open biology · 2017Review
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
backgroundOver 160 disease phenotypes have been mapped to the major histocompatibility complex (MHC) region on chromosome 6 by genome-wide association study (GWAS), suggesting that the MHC region as a whole may be involved in the aetiology of many phenotypes, including unstudied diseases. The phenome-wide association study (PheWAS), a powerful and complementary approach to GWAS, has demonstrated its ability to discover and rediscover genetic associations. The objective of this study is to comprehensively investigate the MHC region by PheWAS to identify new phenotypes mapped to this genetically important region.
methodsIn the current study, we systematically explored the MHC region using PheWAS to associate 2692 MHC-linked variants (minor allele frequency ≥0.01) with 6221 phenotypes in a cohort of 7481 subjects from the Marshfield Clinic Personalized Medicine Research Project.
resultsFindings showed that expected associations previously identified by GWAS could be identified by PheWAS (eg, psoriasis, ankylosing spondylitis, type I diabetes and coeliac disease) with some having strong cross-phenotype associations potentially driven by pleiotropic effects. Importantly, novel associations with eight diseases not previously assessed by GWAS (eg, lichen planus) were also identified and replicated in an independent population. Many of these associated diseases appear to be immune-related disorders. Further assessment of these diseases in 16 484 Marshfield Clinic twins suggests that some of these diseases, including lichen planus, may have genetic aetiologies.
conclusionsThese results demonstrate that the PheWAS approach is a powerful and novel method to discover SNP-disease associations, and is ideal when characterising cross-phenotype associations, and further emphasise the importance of the MHC region in human health and disease.
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