ArticleMolecular vision2014
Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci.
Article in Molecular vision, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
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
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
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- Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.American journal of human genetics · 2023Article
- The Physiological and Pathological Role of Acyl-CoA Oxidation.International journal of molecular sciences · 2023Review
- Opportunities and challenges for biomarker discovery using electronic health record data.Trends in molecular medicine · 2023Review
- Returning integrated genomic risk and clinical recommendations: The eMERGE study.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- The Role of Electronic Health Records in Advancing Genomic Medicine.Annual review of genomics and human genetics · 2021Review
- Novel EDGE encoding method enhances ability to identify genetic interactions.PLoS genetics · 2021Article
- Lessons learned from the eMERGE Network: balancing genomics in discovery and practice.HGG advances · 2021Review
- A Mitochondrial Genome-Wide Association Study of Cataract in a Latino Population.Translational vision science & technology · 2020Article
- The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- GWAS and Beyond: Using Omics Approaches to Interpret SNP Associations.Current genetic medicine reports · 2019Article
- The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.Genetic epidemiology · 2019Article
- Genetically-guided algorithm development and sample size optimization for age-related macular degeneration cases and controls in electronic health records from the VA Million Veteran Program.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2019Article
- Comorbidity Characterization Among eMERGE Institutions: A Pilot Evaluation with the Johns Hopkins Adjusted Clinical Groups® System.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2019Article
- Concepts Driving Pharmacogenomics Implementation Into Everyday Healthcare.Pharmacogenomics and personalized medicine · 2019Review
- A case study evaluating the portability of an executable computable phenotype algorithm across multiple institutions and electronic health record environments.Journal of the American Medical Informatics Association : JAMIA · 2018Article
- Exome Array Analysis of Nuclear Lens Opacity.Ophthalmic epidemiology · 2018Article
- A simulation study investigating power estimates in phenome-wide association studies.BMC bioinformatics · 2018Article
- A Rare Variant (rs933717) at FBXO31-MAP1LC3B in Chinese Is Associated With Systemic Lupus Erythematosus.Arthritis & rheumatology (Hoboken, N.J.) · 2018Article
Corrections and comments
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Authors and funding
23 authors at 10 institutions in 1 country.
Funding
Abstract
purposeCataract is the leading cause of blindness in the world, and in the United States accounts for approximately 60% of Medicare costs related to vision. The purpose of this study was to identify genetic markers for age-related cataract through a genome-wide association study (GWAS).
methodsIn the electronic medical records and genomics (eMERGE) network, we ran an electronic phenotyping algorithm on individuals in each of five sites with electronic medical records linked to DNA biobanks. We performed a GWAS using 530,101 SNPs from the Illumina 660W-Quad in a total of 7,397 individuals (5,503 cases and 1,894 controls). We also performed an age-at-diagnosis case-only analysis.
resultsWe identified several statistically significant associations with age-related cataract (45 SNPs) as well as age at diagnosis (44 SNPs). The 45 SNPs associated with cataract at p<1×10(-5) are in several interesting genes, including ALDOB, MAP3K1, and MEF2C. All have potential biologic relationships with cataracts.
conclusionsThis is the first genome-wide association study of age-related cataract, and several regions of interest have been identified. The eMERGE network has pioneered the exploration of genomic associations in biobanks linked to electronic health records, and this study is another example of the utility of such resources. Explorations of age-related cataract including validation and replication of the association results identified herein are needed in future studies.
Indexed as
Identifiers
25352737PMC4168835W2101461562What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.