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Sökning: onr:"swepub:oai:DiVA.org:uu-410124" > rs953413 Regulates ...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03734naa a2200409 4500 | |
| 001 | oai:DiVA.org:uu-410124 | |
| 003 | SwePub | |
| 008 | 200604s2020 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:143389617 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4101242 URI |
| 024 | 7 | a https://doi.org/10.1016/j.isci.2019.1008082 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1433896172 URI |
| 040 | a (SwePub)uud (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Pan, Gangu Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)ganpa561 |
| 245 | 1 0 | a rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression |
| 264 | 1 | b Elsevier BV,c 2020 |
| 338 | a electronic2 rdacarrier | |
| 520 | a 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Cell- och molekylärbiologi0 (SwePub)301082 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Cell and Molecular Biology0 (SwePub)301082 hsv//eng |
| 700 | 1 | a Cavalli, Marcou Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)marca978 |
| 700 | 1 | a Carlsson, Björnu AstraZeneca, Res & Early Dev, Cardiovasc Renal & Metab, BioPharmaceut R&D, Gothenburg, Sweden4 aut |
| 700 | 1 | a Skrtic, Stankou AstraZeneca AB, Pharmaceut Technol & Dev, Gothenburg, Sweden;Sahlgrens Univ Hosp, Dept Med, Gothenburg, Sweden4 aut |
| 700 | 1 | a Kumar, Chanchalu AstraZeneca, 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, Sweden4 aut |
| 700 | 1 | a Wadelius, Claes,d 1955-u Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik4 aut0 (Swepub:uu)claeswad |
| 710 | 2 | a Uppsala universitetb Medicinsk genetik och genomik4 org |
| 773 | 0 | t iScienced : Elsevier BVg 23:2q 23:2x 2589-0042 |
| 856 | 4 | u https://doi.org/10.1016/j.isci.2019.100808y Fulltext |
| 856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1434941/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
| 856 | 4 | u http://www.cell.com/article/S2589004219305541/pdf |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-410124 |
| 856 | 4 8 | u https://doi.org/10.1016/j.isci.2019.100808 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:143389617 |
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