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- Pan, GangUppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab (author)
rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression
- Article/chapterEnglish2020
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- Elsevier BV,2020
- electronicrdacarrier
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- LIBRIS-ID:oai:DiVA.org:uu-410124
- https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-410124URI
- https://doi.org/10.1016/j.isci.2019.100808DOI
- http://kipublications.ki.se/Default.aspx?queryparsed=id:143389617URI
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- Language:English
- Summary in:English
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- SwePubSwePub
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- 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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- Cavalli, MarcoUppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab(Swepub:uu)marca978 (author)
- Carlsson, BjörnAstraZeneca, Res & Early Dev, Cardiovasc Renal & Metab, BioPharmaceut R&D, Gothenburg, Sweden (author)
- Skrtic, StankoAstraZeneca AB, Pharmaceut Technol & Dev, Gothenburg, Sweden;Sahlgrens Univ Hosp, Dept Med, Gothenburg, Sweden (author)
- Kumar, ChanchalAstraZeneca, BioPharmaceut R&D, Translat Sci & Expt Med, Res & Early Dev,Cardiovasc Renal & Metab CVRM, Gothenburg, Sweden;Karolinska Inst, AstraZeneca Integrated CardioMetab Ctr KI AZ ICMC, Dept Med, Huddinge, Sweden (author)
- Wadelius, Claes,1955-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)claeswad (author)
- Uppsala universitetMedicinsk genetik och genomik (creator_code:org_t)
Related titles
- In:iScience: Elsevier BV23:22589-0042
Internet link
- https://doi.org/10.1016/j.isci.2019.100808Fulltext
- https://uu.diva-portal.org/smash/get/diva2:1434941/FULLTEXT01.pdffulltext:print
- http://www.cell.com/article/S2589004219305541/pdf
- https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-410124
- https://doi.org/10.1016/j.isci.2019.100808
- http://kipublications.ki.se/Default.aspx?queryparsed=id:143389617
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