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rs953413 Regulates ...
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Pan, GangUppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
(författare)
rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression
- Artikel/kapitelEngelska2020
Förlag, utgivningsår, omfång ...
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Elsevier BV,2020
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electronicrdacarrier
Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:uu-410124
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-410124URI
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https://doi.org/10.1016/j.isci.2019.100808DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:143389617URI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
Anmärkningar
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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.
Ämnesord och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Cavalli, MarcoUppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab(Swepub:uu)marca978
(författare)
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Carlsson, BjörnAstraZeneca, Res & Early Dev, Cardiovasc Renal & Metab, BioPharmaceut R&D, Gothenburg, Sweden
(författare)
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Skrtic, StankoAstraZeneca AB, Pharmaceut Technol & Dev, Gothenburg, Sweden;Sahlgrens Univ Hosp, Dept Med, Gothenburg, Sweden
(författare)
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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
(författare)
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Wadelius, Claes,1955-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)claeswad
(författare)
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Uppsala universitetMedicinsk genetik och genomik
(creator_code:org_t)
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Ingår i:iScience: Elsevier BV23:22589-0042
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