ArticlePloS one2010
A genome-wide association study of red blood cell traits using the electronic medical record.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 5 of them syntheses 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
86 citing papers in PubMed, 5 syntheses or guidelines pooled it, 119 citations in OpenAlex.
- LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks.PLoS genetics · 2020Pooled it
- Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.American journal of human genetics · 2017Pooled it
- Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans.PloS one · 2016Pooled it
- Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.Diabetes · 2014Pooled it
- GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.Human molecular genetics · 2013Pooled it
- Shared decision-making following disclosure of coronary heart disease genetic risk: results from a randomized clinical trial.Journal of investigative medicine : the official publication of the American Federation for Clinical Research · 2017Trial
- Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.Circulation · 2013Trial
- Mean Corpuscular Volume inJournal of hematology · 2026Article
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- Evaluating Large Language Models in Extracting Cognitive Exam Dates and Scores.medRxiv : the preprint server for health sciences · 2024Article
- The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study).BMC pediatrics · 2024Article
- Automated Detection of Substance-Use Status and Related Information from Clinical Text.Sensors (Basel, Switzerland) · 2022Article
- Fount, fate, features, and function of renal erythropoietin-producing cells.Pflugers Archiv : European journal of physiology · 2022Review
- Assessing the impact of alcohol consumption on the genetic contribution to mean corpuscular volume.Human molecular genetics · 2021Article
- Common Variants in theCurrent developments in nutrition · 2021Article
- An investigation of the relationship between TMPRSS6 gene expression, genetic variants and clinical findings in breast cancer.Molecular biology reports · 2020Article
- Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics.BMC genomics · 2020Article
- Differences in the frequency of genetic variants associated with iron imbalance among global populations.PloS one · 2020Article
- Impact of Diverse Data Sources on Computational Phenotyping.Frontiers in genetics · 2020Article
- Making work visible for electronic phenotype implementation: Lessons learned from the eMERGE network.Journal of biomedical informatics · 2019Article
26 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundThe Electronic Medical Record (EMR) is a potential source for high throughput phenotyping to conduct genome-wide association studies (GWAS), including those of medically relevant quantitative traits. We describe use of the Mayo Clinic EMR to conduct a GWAS of red blood cell (RBC) traits in a cohort of patients with peripheral arterial disease (PAD) and controls without PAD. METHODOLOGY AND PRINCIPAL
findingsResults for hemoglobin level, hematocrit, RBC count, mean corpuscular volume, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration were extracted from the EMR from January 1994 to September 2009. Out of 35,159 RBC trait values in 3,411 patients, we excluded 12,864 values in 1,165 patients that had been measured during hospitalization or in the setting of hematological disease, malignancy, or use of drugs that affect RBC traits, leaving a final genotyped sample of 3,012, 80% of whom had ≥2 measurements. The median of each RBC trait was used in the genetic analyses, which were conducted using an additive model that adjusted for age, sex, and PAD status. We identified four genomic loci that were associated (P<5 × 10(-8)) with one or more of the RBC traits (HBLS1/MYB on 6q23.3, TMPRSS6 on 22q12.3, HFE on 6p22.1, and SLC17A1 on 6p22.2). Three of these loci (HBLS1/MYB, TMPRSS6, and HFE) had been identified in recent GWAS and the allele frequencies, effect sizes, and the directions of effects of the replicated SNPs were similar to the prior studies.
conclusionsOur results demonstrate feasibility of using the EMR to conduct high throughput genomic studies of medically relevant quantitative traits.
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What 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.