{"entity": "publication", "iuid": "4df162911ebb47ad81e3d2202fd258e3", "timestamp": "2026-10-02T02:25:51.021Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/4df162911ebb47ad81e3d2202fd258e3.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/4df162911ebb47ad81e3d2202fd258e3"}}, "title": "rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression.", "authors": [{"family": "Pan", "given": "Gang", "initials": "G"}, {"family": "Cavalli", "given": "Marco", "initials": "M"}, {"family": "Carlsson", "given": "Bj\u00f6rn", "initials": "B"}, {"family": "Skrtic", "given": "Stanko", "initials": "S"}, {"family": "Kumar", "given": "Chanchal", "initials": "C"}, {"family": "Wadelius", "given": "Claes", "initials": "C"}], "type": "journal article", "published": "2020-02-21", "journal": {"title": "iScience", "issn": "2589-0042", "volume": "23", "issue": "2", "pages": "100808", "issn-l": null}, "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 HNF4\u03b1 cooperative binding site. The G allele of rs953413 increases binding of FOXA1/FOXA2 and HNF4\u03b1 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 HNF4\u03b1 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 HNF4\u03b1 cooperation.", "doi": "10.1016/j.isci.2019.100808", "pmid": "31928966", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7033636"}, {"db": "pii", "key": "S2589-0042(19)30554-1"}], "notes": [], "created": "2026-09-23T11:43:34.604Z", "modified": "2026-09-23T11:43:34.639Z"}