{"entity": "publication", "iuid": "57b8618122e4423a83c327dfa5519cc5", "timestamp": "2026-08-10T22:40:56.917Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/57b8618122e4423a83c327dfa5519cc5.json"}, "display": {"href": "https://publications.scilifelab.se/publication/57b8618122e4423a83c327dfa5519cc5"}}, "title": "Novel regulatory variant detected on the VKORC1 haplotype that is associated with warfarin dose.", "authors": [{"family": "Cavalli", "given": "Marco", "initials": "M"}, {"family": "Pan", "given": "Gang", "initials": "G"}, {"family": "Nord", "given": "Helena", "initials": "H"}, {"family": "Eriksson", "given": "Niclas", "initials": "N"}, {"family": "Wadelius", "given": "Claes", "initials": "C"}, {"family": "Wadelius", "given": "Mia", "initials": "M"}], "type": "journal article", "published": "2016-08-00", "journal": {"volume": "17", "issn": "1744-8042", "issue": "12", "pages": "1305-1314", "title": "Pharmacogenomics", "issn-l": "1462-2416"}, "abstract": "Warfarin dose requirement is associated with VKORC1 rs9923231, and we studied whether it is a functional variant.\n\nWe selected variants in linkage disequilibrium with rs9923231 that bind transcription factors in an allele-specific way. Representative haplotypes were cloned or constructed, nuclear protein binding and transcriptional activity were evaluated.\n\nrs56314408C>T and rs2032915C>T were detected in a liver enhancer in linkage disequilibrium with rs9923231. The rs56314408-rs2032915 C-C haplotype preferentially bound nuclear proteins and had higher transcriptional activity than T-T and the African-specific T-C. A motif for TFAP2A/C was disrupted by rs56314408T. No difference in transcriptional activity was detected for rs9923231G>A.\n\nOur results supported an activating role for rs56314408C, while rs9923231G>A had no evidence of being functional.", "doi": "10.2217/pgs-2015-0013", "pmid": "26847243", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [], "notes": [], "created": "2017-05-03T13:00:28.124Z", "modified": "2024-01-16T13:48:49.734Z"}