Unraveling the Function of FTO Variants
Abstract
Body-mass index (BMI), which represents a complex trait with high heritability, is a clinically relevant surrogate for obesity.1 Genomewide association studies have identified nearly 10,000 genetic polymorphisms in single-nucleotide variants (SNVs) associated with various human disorders and traits. However, approximately 90% of these variants are in genomic regions that do not map to coding regions and, therefore, do not directly affect protein synthesis or translation.2 However, risk-associated loci containing noncoding variants can alter gene expression by modulating the activity of neighboring cis-regulatory elements — that is, noncoding DNA sequences in or near a gene that can modify the expression . . .
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The strongest associated obesity GWAS signal lies within an intron of FTO but principally influences expression of distal genes IRX3 and IRX5.
“One such example comes from the strongest associated obesity GWAS signal that lies within an intron of the FTO gene, but principally influences the expression of distal genes IRX3 and IRX517–19.”
Cited by
Sorted by citations
Burton, E. A., Argenziano, M., Cook, K., Ridler, M., Lu, S., Su, C., Manduchi, E., Littleton, S. H., Leonard, M. E., Hodge, K. M., et al. (2024) · doi:10.1101/2024.08.22.609230 · Cited by 3 · see citing works
- Authors
- Rosen, C. J., & Ingelfinger, J. R.
- Affiliations
- Maine Medical Center Research Institute (US)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2015-09-03
- Volume
- 373
- Issue
- 10
- Pages
- 964-965
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W1445022202
- Cited by
- 14
- References
- 0
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2023: 1 · 2019: 3 · 2018: 1 · 2016: 1 · 2015: 4
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Keywords
- FTO, body mass index, obesity, single nucleotide variants, non-coding variants, cis-regulatory elements, gene expression regulation, genetic polymorphism, complex traits
- MeSH terms
- Animals, Humans, Obesity, Proteins, Adipocytes, Thermogenesis
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
