ArticleiScience2020
rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression.
Article in iScience, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- The relationship between elongation of very long-chain fatty acids (ELOVL) 2 polymorphism rs953413 and blood n-3 HUFA levels: a secondary analysis of EPA treatment in the seAFOod polyp prevention trial.Genes & nutrition · 2026Article
- Retinal polyunsaturated fatty acid supplementation reverses aging-related vision decline in mice.Science translational medicine · 2025Article
- The Single Nucleotide Substitution T → A rs2072580 Damages the CREB1 Binding Site in the BidirectionalGenes · 2025Article
- FOXA1 and FOXA2: the regulatory mechanisms and therapeutic implications in cancer.Cell death discovery · 2024Review
- High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes.American journal of human genetics · 2023Article
- Insight of a lipid metabolism prognostic model to identify immune landscape and potential target for retroperitoneal liposarcoma.Frontiers in immunology · 2023Article
- The risk variant rs11836367 contributes to breast cancer onset and metastasis by attenuating Wnt signaling via regulatingScience advances · 2022Article
- A common variant in 11q23.3 associated with hyperlipidemia is mediated by the binding and regulation of GATA4.NPJ genomic medicine · 2022Article
- Multifaceted regulation of hepatic lipid metabolism by YY1.Life science alliance · 2021Article
- Regulatory SNPs: Altered Transcription Factor Binding Sites Implicated in Complex Traits and Diseases.International journal of molecular sciences · 2021Review
- New avenues for systematically inferring cell-cell communication: through single-cell transcriptomics data.Protein & cell · 2020Review
- Harnessing the potential of CRISPR-based platforms to advance the field of hospital medicine.Expert review of anti-infective therapy · 2020Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Long-chain polyunsaturated fatty acids (LC-PUFAs) influence human health in several areas, including cardiovascular disease, diabetes, fatty liver disease, and cancer. ELOVL2 encodes one of the key enzymes in the in vivo synthesis of LC-PUFAs from their precursors. Variants near ELOVL2 have repeatedly been associated with levels of LC-PUFA-derived metabolites in genome-wide association studies (GWAS), but the mechanisms behind these observations remain poorly defined. In this study, we found that rs953413, located in the first intron of ELOVL2, lies within a functional FOXA and HNF4α cooperative binding site. The G allele of rs953413 increases binding of FOXA1/FOXA2 and HNF4α to an evolutionarily conserved enhancer element, conferring allele-specific upregulation of the rs953413-associated gene ELOVL2. The expression of ELOVL2 was significantly downregulated by both FOXA1 and HNF4α knockdown and CRISPR/Cas9-mediated direct mutation to the enhancer element. Our results suggest that rs953413 regulates LC-PUFAs metabolism by altering ELOVL2 expression through FOXA1/FOXA2 and HNF4α cooperation.
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Registered trials
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