ArticleFrontiers in genetics2014
Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index.
Article in Frontiers in genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Genome-wide association study of hospitalized patients and acute kidney injury.Kidney international · 2024Pooled it
- Exploring beyond diagnoses in electronic health records to improve discovery: a review of the phenome-wide association study.JAMIA open · 2025Review
- Shared Genetic Architecture of Obstructive Sleep Apnea and Neck Pain: A Large-Scale Genome-Wide Association Study.Journal of pain research · 2025Article
- Identification of Key Genes Associated with Heat Stress in Rats by Weighted Gene Co-Expression Network Analysis.Animals : an open access journal from MDPI · 2023Article
- Technologies, strategies, and cautions when deconvoluting genome-wide association signals: FTO in focus.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2023Review
- Exploring the clinical and genetic associations of adult weight trajectories using electronic health records in a racially diverse biobank: a phenome-wide and polygenic risk study.The Lancet. Digital health · 2022Article
- Diabetes mellitus susceptibility with varied diseased phenotypes and its comparison with phenome interactome networks.World journal of clinical cases · 2022Review
- Comparing medical history data derived from electronic health records and survey answers in the All of Us Research Program.Journal of the American Medical Informatics Association : JAMIA · 2022Article
- Interaction of obesity polygenic score with lifestyle risk factors in an electronic health record biobank.BMC medicine · 2022Article
- Mendelian Randomization: A Review of Methods for the Prevention, Assessment, and Discussion of Pleiotropy in Studies Using the Fat Mass and Obesity-Associated Gene as an Instrument for Adiposity.Frontiers in genetics · 2022Review
- Exploring the Use of Genomic and Routinely Collected Data: Narrative Literature Review and Interview Study.Journal of medical Internet research · 2021Review
- Lessons learned from the eMERGE Network: balancing genomics in discovery and practice.HGG advances · 2021Review
- Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics.Nature communications · 2021Article
- PheMap: a multi-resource knowledge base for high-throughput phenotyping within electronic health records.Journal of the American Medical Informatics Association : JAMIA · 2020Article
- Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (Journal of the Endocrine Society · 2020Article
- Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records.BMC medical genomics · 2020Article
- Integrating RNA-Seq with GWAS reveals novel insights into the molecular mechanism underpinning ketosis in cattle.BMC genomics · 2020Article
- A common variant in PNPLA3 is associated with age at diagnosis of NAFLD in patients from a multi-ethnic biobank.Journal of hepatology · 2020Article
- A Comprehensive Genome-Wide and Phenome-Wide Examination of BMI and Obesity in a Northern Nevadan Cohort.G3 (Bethesda, Md.) · 2020Article
- Genetic contributions to NAFLD: leveraging shared genetics to uncover systems biology.Nature reviews. Gastroenterology & hepatology · 2020Review
Corrections and comments
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Authors and funding
35 authors at 13 institutions in 1 country.
Funding
Abstract
Phenome-wide association studies (PheWAS) have demonstrated utility in validating genetic associations derived from traditional genetic studies as well as identifying novel genetic associations. Here we used an electronic health record (EHR)-based PheWAS to explore pleiotropy of genetic variants in the fat mass and obesity associated gene (FTO), some of which have been previously associated with obesity and type 2 diabetes (T2D). We used a population of 10,487 individuals of European ancestry with genome-wide genotyping from the Electronic Medical Records and Genomics (eMERGE) Network and another population of 13,711 individuals of European ancestry from the BioVU DNA biobank at Vanderbilt genotyped using Illumina HumanExome BeadChip. A meta-analysis of the two study populations replicated the well-described associations between FTO variants and obesity (odds ratio [OR] = 1.25, 95% Confidence Interval = 1.11-1.24, p = 2.10 × 10(-9)) and FTO variants and T2D (OR = 1.14, 95% CI = 1.08-1.21, p = 2.34 × 10(-6)). The meta-analysis also demonstrated that FTO variant rs8050136 was significantly associated with sleep apnea (OR = 1.14, 95% CI = 1.07-1.22, p = 3.33 × 10(-5)); however, the association was attenuated after adjustment for body mass index (BMI). Novel phenotype associations with obesity-associated FTO variants included fibrocystic breast disease (rs9941349, OR = 0.81, 95% CI = 0.74-0.91, p = 5.41 × 10(-5)) and trends toward associations with non-alcoholic liver disease and gram-positive bacterial infections. FTO variants not associated with obesity demonstrated other potential disease associations including non-inflammatory disorders of the cervix and chronic periodontitis. These results suggest that genetic variants in FTO may have pleiotropic associations, some of which are not mediated by obesity.
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