{"entity": "researcher", "timestamp": "2026-08-17T13:22:25.426Z", "family": "Sundbaum", "given": "Johanna Karlsson", "initials": "JK", "orcid": "0000-0001-5313-7981", "affiliations": ["Department of Medical Sciences, Rheumatology, Uppsala University, SE-751 85, Uppsala, Sweden", "Department of Health Sciences, Lule\u00e5 University of Technology, SE-971 87, Lule\u00e5, Sweden"], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/aae0af5ecb664750a7fe9f482181e571.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/aae0af5ecb664750a7fe9f482181e571"}}, "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"}]}