{"entity": "journal", "iuid": "dbcb4ce27c76404b99862b5b5ed8ed86", "timestamp": "2026-07-20T23:04:22.940Z", "links": {"self": {"href": "https://publications.scilifelab.se/journal/Pharmacogenomics.json"}, "display": {"href": "https://publications.scilifelab.se/journal/Pharmacogenomics"}}, "title": "Pharmacogenomics", "issn": "1744-8042", "issn-l": "1462-2416", "publications_count": 4, "publications": [{"entity": "publication", "iuid": "2f52edf26b6d4e70b518038783cd933a", "links": {"self": {"href": "https://publications.scilifelab.se/publication/2f52edf26b6d4e70b518038783cd933a.json"}, "display": {"href": "https://publications.scilifelab.se/publication/2f52edf26b6d4e70b518038783cd933a"}}, "title": "Genome-wide association study of liver enzyme elevation in an extended cohort of rheumatoid arthritis patients starting low-dose methotrexate.", "authors": [{"family": "Cavalli", "given": "Marco", "initials": "M", "orcid": "0000-0003-1143-1431", "researcher": {"href": "https://publications.scilifelab.se/researcher/e35211c06385459baee12101121d2a15.json"}}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}}, {"family": "Sundbaum", "given": "Johanna Karlsson", "initials": "JK", "orcid": "0000-0001-5313-7981", "researcher": {"href": "https://publications.scilifelab.se/researcher/aae0af5ecb664750a7fe9f482181e571.json"}}, {"family": "Wallenberg", "given": "Matilda", "initials": "M"}, {"family": "Kohnke", "given": "Hugo", "initials": "H"}, {"family": "Baecklund", "given": "Eva", "initials": "E"}, {"family": "Hallberg", "given": "P\u00e4r", "initials": "P", "orcid": "0000-0003-3465-3280", "researcher": {"href": "https://publications.scilifelab.se/researcher/968cb3fe072d4ed09739e8be6668d168.json"}}, {"family": "Wadelius", "given": "Mia", "initials": "M", "orcid": "0000-0002-6368-2622", "researcher": {"href": "https://publications.scilifelab.se/researcher/ec07b9869a1f4b77b734c5dc567dc630.json"}}], "type": "journal article", "published": "2022-10-00", "journal": {"title": "Pharmacogenomics", "issn": "1744-8042", "volume": "23", "issue": "15", "pages": "813-820", "issn-l": "1462-2416"}, "abstract": "Aim: A follow-up genome-wide association study (GWAS) in an extended cohort of rheumatoid arthritis (RA) patients starting low-dose methotrexate (MTX) treatment was performed to identify further genetic variants associated with alanine aminotransferase (ALT) elevation. Patients & methods: A GWAS was performed on 346 RA patients. Two outcomes within the first 6 months of MTX treatment were assessed: ALT >1.5-times the upper level of normal (ULN) and maximum level of ALT. Results: SPATA9 (rs72783407) was significantly associated with maximum level of ALT (p = 2.58 \u00d7 10-8) and PLCG2 (rs60427389) was tentatively associated with ALT >1.5 \u00d7 ULN. Conclusion: Associations with SNPs in genes related to male fertility (SPATA9) and inflammatory processes (PLCG2) were identified.", "doi": "10.2217/pgs-2022-0074", "pmid": "36070248", "labels": {"National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [], "notes": [], "created": "2022-09-19T11:57:03.359Z", "modified": "2024-01-16T13:48:34.919Z"}, {"entity": "publication", "iuid": "6dc0d1b807c54d67851f7551d0a1f0af", "links": {"self": {"href": "https://publications.scilifelab.se/publication/6dc0d1b807c54d67851f7551d0a1f0af.json"}, "display": {"href": "https://publications.scilifelab.se/publication/6dc0d1b807c54d67851f7551d0a1f0af"}}, "title": "Genome-wide association study of liver enzyme elevation in rheumatoid arthritis patients starting methotrexate.", "authors": [{"family": "Sundbaum", "given": "Johanna Karlsson", "initials": "JK", "orcid": "0000-0001-5313-7981", "researcher": {"href": "https://publications.scilifelab.se/researcher/aae0af5ecb664750a7fe9f482181e571.json"}}, {"family": "Baecklund", "given": "Eva", "initials": "E"}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}}, {"family": "Kohnke", "given": "Hugo", "initials": "H"}, {"family": "Wallenberg", "given": "Matilda", "initials": "M"}, {"family": "Cavalli", "given": "Marco", "initials": "M", "orcid": "0000-0003-1143-1431", "researcher": {"href": "https://publications.scilifelab.se/researcher/e35211c06385459baee12101121d2a15.json"}}, {"family": "Wadelius", "given": "Claes", "initials": "C", "orcid": "0000-0002-2033-7829", "researcher": {"href": "https://publications.scilifelab.se/researcher/2ec5ca1122024da4893b61e329a5ece5.json"}}, {"family": "Wadelius", "given": "Mia", "initials": "M", "orcid": "0000-0002-6368-2622", "researcher": {"href": "https://publications.scilifelab.se/researcher/ec07b9869a1f4b77b734c5dc567dc630.json"}}, {"family": "Hallberg", "given": "P\u00e4r", "initials": "P", "orcid": "0000-0003-3465-3280", "researcher": {"href": "https://publications.scilifelab.se/researcher/968cb3fe072d4ed09739e8be6668d168.json"}}], "type": "journal article", "published": "2021-10-00", "journal": {"title": "Pharmacogenomics", "issn": "1744-8042", "issn-l": "1462-2416", "volume": "22", "issue": "15", "pages": "973-982"}, "abstract": "Aim: To identify novel genetic variants predisposing to elevation of Alanine aminotransferase (ALT) in rheumatoid arthritis (RA) patients after initiation of methotrexate (MTX) treatment. Patients & methods: We performed genome-wide association studies in 198 RA patients starting MTX. Outcomes were maximum level of ALT and ALT >1.5-times the upper level of normal within the first 6 months of treatment. Results: RAVER2 (rs72675408) was significantly associated with maximum level of ALT (p = 4.36 \u00d7 10-8). This variant is in linkage disequilibrium with rs72675451, which is associated with differential expression of JAK1 and RAVER2. Conclusion: We found an association between ALT elevation and genetic variants that may regulate the expression of JAK1 and RAVER2. JAK1 encodes a janus kinase involved in the pathogenesis of RA.", "doi": "10.2217/pgs-2021-0064", "pmid": "34521259", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [], "notes": [], "created": "2021-09-17T14:54:04.269Z", "modified": "2024-01-16T13:48:38.408Z"}, {"entity": "publication", "iuid": "28809bc5ad5e4225829c19763a943949", "links": {"self": {"href": "https://publications.scilifelab.se/publication/28809bc5ad5e4225829c19763a943949.json"}, "display": {"href": "https://publications.scilifelab.se/publication/28809bc5ad5e4225829c19763a943949"}}, "title": "Genetic determinants of warfarin maintenance dose and time in therapeutic treatment range: a RE-LY genomics substudy.", "authors": [{"family": "Eriksson", "given": "Niclas", "initials": "N"}, {"family": "Wallentin", "given": "Lars", "initials": "L"}, {"family": "Berglund", "given": "Lars", "initials": "L"}, {"family": "Axelsson", "given": "Tomas", "initials": "T"}, {"family": "Connolly", "given": "Stuart", "initials": "S"}, {"family": "Eikelboom", "given": "John", "initials": "J"}, {"family": "Ezekowitz", "given": "Michael", "initials": "M"}, {"family": "Oldgren", "given": "Jonas", "initials": "J"}, {"family": "Par\u00e9", "given": "Guillaume", "initials": "G"}, {"family": "Reilly", "given": "Paul", "initials": "P"}, {"family": "Siegbahn", "given": "Agneta", "initials": "A"}, {"family": "Syvanen", "given": "Ann-Christine", "initials": "AC", "orcid": "0000-0002-9681-9146", "researcher": {"href": "https://publications.scilifelab.se/researcher/f7012e35025543379380cb90efd71243.json"}}, {"family": "Wadelius", "given": "Claes", "initials": "C"}, {"family": "Yusuf", "given": "Salim", "initials": "S"}, {"family": "Wadelius", "given": "Mia", "initials": "M"}], "type": "journal article", "published": "2016-08-00", "journal": {"volume": "17", "issn": "1744-8042", "issue": "13", "pages": "1425-1439", "title": "Pharmacogenomics", "issn-l": "1462-2416"}, "abstract": "We investigated associations between genetic variation in candidate genes and on a genome-wide scale with warfarin maintenance dose, time in therapeutic range (TTR), and risk of major bleeding.\n\nIn total, 982 warfarin-treated patients from the RE-LY trial were studied.\n\nAfter adjusting for SNPs in VKORC1 and CYP2C9, SNPs in DDHD1 (rs17126068) and NEDD4 (rs2288344) were associated with dose. Adding these SNPs and CYP4F2 (rs2108622) to a base model increased R(2) by 2.9%. An SNP in ASPH (rs4379440) was associated with TTR (-6.8% per minor allele). VKORC1 was associated with time less than INR 2.0. VKORC1 and CYP2C9 were associated with time more than INR 3.0, but not with major bleeding.\n\nWe identified two novel genes associated with warfarin maintenance dose and one gene associated with TTR. These genes need to be replicated in an independent cohort.", "doi": "10.2217/pgs-2016-0061", "pmid": "27488176", "labels": {"National Genomics Infrastructure": "Collaborative", "NGI Uppsala (SNP&SEQ Technology Platform)": "Collaborative", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [], "notes": [], "created": "2017-05-03T13:00:28.417Z", "modified": "2024-01-16T13:48:49.759Z"}, {"entity": "publication", "iuid": "57b8618122e4423a83c327dfa5519cc5", "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"}], "created": "2017-05-09T09:12:25.405Z", "modified": "2020-11-27T13:14:06.707Z"}