{"entity": "journal", "iuid": "a0075f43be69467eb820b16536ca860a", "timestamp": "2026-07-12T09:28:20.154Z", "links": {"self": {"href": "https://publications.scilifelab.se/journal/Genes%20Immun..json"}, "display": {"href": "https://publications.scilifelab.se/journal/Genes%20Immun."}}, "title": "Genes Immun.", "issn": "1476-5470", "issn-l": "1466-4879", "publications_count": 8, "publications": [{"entity": "publication", "iuid": "2ed7430a7f8f40e986cd3c251f8e8353", "links": {"self": {"href": "https://publications.scilifelab.se/publication/2ed7430a7f8f40e986cd3c251f8e8353.json"}, "display": {"href": "https://publications.scilifelab.se/publication/2ed7430a7f8f40e986cd3c251f8e8353"}}, "title": "Variants in BANK1 are associated with lupus nephritis of European ancestry.", "authors": [{"family": "Bolin", "given": "Karin", "initials": "K"}, {"family": "Imgenberg-Kreuz", "given": "Juliana", "initials": "J"}, {"family": "Leonard", "given": "Dag", "initials": "D"}, {"family": "Sandling", "given": "Johanna K", "initials": "JK"}, {"family": "Alexsson", "given": "Andrei", "initials": "A"}, {"family": "Pucholt", "given": "Pascal", "initials": "P", "orcid": "0000-0003-3342-1373", "researcher": {"href": "https://publications.scilifelab.se/researcher/61a214ff2d494b568cb6da944e858acf.json"}}, {"family": "Haarhaus", "given": "Malena Loberg", "initials": "ML"}, {"family": "Alml\u00f6f", "given": "Jonas Carlsson", "initials": "JC"}, {"family": "Nititham", "given": "Joanne", "initials": "J"}, {"family": "J\u00f6nsen", "given": "Andreas", "initials": "A"}, {"family": "Sj\u00f6wall", "given": "Christopher", "initials": "C", "orcid": "0000-0003-0900-2048", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe4dd47b8ca1436e8a26fdea33f5e7f6.json"}}, {"family": "Bengtsson", "given": "Anders A", "initials": "AA"}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S"}, {"family": "Svenungsson", "given": "Elisabet", "initials": "E"}, {"family": "Gunnarsson", "given": "Iva", "initials": "I"}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "AC"}, {"family": "Lerang", "given": "Karoline", "initials": "K"}, {"family": "Troldborg", "given": "Anne", "initials": "A"}, {"family": "Voss", "given": "Anne", "initials": "A"}, {"family": "Molberg", "given": "\u00d8yvind", "initials": "\u00d8"}, {"family": "Jacobsen", "given": "S\u00f8ren", "initials": "S"}, {"family": "Criswell", "given": "Lindsey", "initials": "L"}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L", "orcid": "0000-0001-9403-6503", "researcher": {"href": "https://publications.scilifelab.se/researcher/053ed3b657124a1bab3a78dc685556e6.json"}}, {"family": "Nordmark", "given": "Gunnel", "initials": "G", "orcid": "0000-0002-3829-7431", "researcher": {"href": "https://publications.scilifelab.se/researcher/188fda53498740dbb007441cc94bb1ad.json"}}], "type": "journal article", "published": "2021-07-00", "journal": {"title": "Genes Immun.", "issn": "1476-5470", "issn-l": "1466-4879", "volume": "22", "issue": "3", "pages": "194-202"}, "abstract": "The genetic background of lupus nephritis (LN) has not been completely elucidated. We performed a case-only study of 2886 SLE patients, including 947 (33%) with LN. Renal biopsies were available from 396 patients. The discovery cohort (Sweden, n = 1091) and replication cohort 1 (US, n = 962) were genotyped on the Immunochip and replication cohort 2 (Denmark/Norway, n = 833) on a custom array. Patients with LN, proliferative nephritis, or LN with end-stage renal disease were compared with SLE without nephritis. Six loci were associated with LN (p < 1 \u00d7 10-4, NFKBIA, CACNA1S, ITGA1, BANK1, OR2Y, and ACER3) in the discovery cohort. Variants in BANK1 showed the strongest association with LN in replication cohort 1 (p = 9.5 \u00d7 10-4) and proliferative nephritis in a meta-analysis of discovery and replication cohort 1. There was a weak association between BANK1 and LN in replication cohort 2 (p = 0.052), and in the meta-analysis of all three cohorts the association was strengthened (p = 2.2 \u00d7 10-7). DNA methylation data in 180 LN patients demonstrated methylation quantitative trait loci (meQTL) effects between a CpG site and BANK1 variants. To conclude, we describe genetic variations in BANK1 associated with LN and evidence for genetic regulation of DNA methylation within the BANK1 locus. This indicates a role for BANK1 in LN pathogenesis.", "doi": "10.1038/s41435-021-00142-8", "pmid": "34127828", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Collaborative", "National Genomics Infrastructure": "Collaborative", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41435-021-00142-8"}, {"db": "pmc", "key": "PMC8277572"}], "notes": [], "created": "2021-08-19T13:41:28.034Z", "modified": "2024-01-16T13:48:39.193Z"}, {"entity": "publication", "iuid": "2a0ff5d5278f4f43a312d4a527ebc89f", "links": {"self": {"href": "https://publications.scilifelab.se/publication/2a0ff5d5278f4f43a312d4a527ebc89f.json"}, "display": {"href": "https://publications.scilifelab.se/publication/2a0ff5d5278f4f43a312d4a527ebc89f"}}, "title": "Analysis of the genetic variants associated with circulating levels of sgp130. Results from the IMPROVE study.", "authors": [{"family": "Bonomi", "given": "Alice", "initials": "A"}, {"family": "Veglia", "given": "Fabrizio", "initials": "F"}, {"family": "Baldassarre", "given": "Damiano", "initials": "D"}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ", "orcid": "0000-0001-8506-3585", "researcher": {"href": "https://publications.scilifelab.se/researcher/8ac5060a3b37466dae002d4ad8f4d0ac.json"}}, {"family": "Golabkesh", "given": "Zahra", "initials": "Z"}, {"family": "Sennblad", "given": "Bengt", "initials": "B", "orcid": "0000-0002-4360-8003", "researcher": {"href": "https://publications.scilifelab.se/researcher/1c991150beec46ba8886379193d6037b.json"}}, {"family": "Leander", "given": "Karin", "initials": "K"}, {"family": "Smit", "given": "Andries J", "initials": "AJ"}, {"family": "Giral", "given": "Philippe", "initials": "P"}, {"family": "Humphries", "given": "Steve E", "initials": "SE"}, {"family": "Tremoli", "given": "Elena", "initials": "E"}, {"family": "Hamsten", "given": "Anders", "initials": "A"}, {"family": "de Faire", "given": "Ulf", "initials": "U"}, {"family": "Gigante", "given": "Bruna", "initials": "B", "orcid": "0000-0003-4508-7990", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ac1bdc52e3241ea9eb5645f603229a3.json"}}, {"family": " on behalf of the IMPROVE study group", "given": "", "initials": ""}], "type": "journal article", "published": "2020-02-00", "journal": {"volume": "21", "issn": "1476-5470", "issue": "2", "title": "Genes Immun.", "pages": "100-108", "issn-l": "1466-4879"}, "abstract": "The genes regulating circulating levels of soluble gp130 (sgp130), the antagonist of the inflammatory response in atherosclerosis driven by interleukin 6, are largely unknown. Aims of the present study were to identify genetic loci associated with circulating sgp130 and to explore the potential association between variants associated with sgp130 and markers of subclinical atherosclerosis. The study is based on IMPROVE (n = 3703), a cardiovascular multicentre study designed to investigate the determinants of carotid intima media thickness, a measure of subclinical atherosclerosis. Genomic DNA was genotyped by the CardioMetaboChip and ImmunoChip. About 360,842 SNPs were tested for association with log-transformed sgp130, using linear regression adjusted for age, gender, and population stratification using PLINK v1.07. A p value of 1 \u00d7 10-5 was chosen as threshold for significance value. In an exploratory analysis, SNPs associated with sgp130 were tested for association with c-IMT measures. We identified two SNPs significantly associated with sgp130 levels and 24 showing suggestive association with sgp130 levels. One SNP (rs17688225) on chromosome 14 was positively associated with sgp130 serum levels (\u03b2 = 0.03 SE = 0.007, p = 4.77 \u00d7 10-5) and inversely associated with c-IMT (c-IMTmean-max \u03b2 = -0.001 SE = 0.005, p = 0.0342). Our data indicate that multiple loci regulate sgp130 levels and suggest a possible common pathway between sgp130 and c-IMT measures.", "doi": "10.1038/s41435-019-0090-z", "pmid": "31932740", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41435-019-0090-z"}, {"db": "pmc", "key": "PMC7182533"}], "notes": [], "created": "2020-01-17T08:12:24.951Z", "modified": "2021-11-10T12:54:53.393Z"}, {"entity": "publication", "iuid": "eb989235ef28426db5628c1f51c5dc4b", "links": {"self": {"href": "https://publications.scilifelab.se/publication/eb989235ef28426db5628c1f51c5dc4b.json"}, "display": {"href": "https://publications.scilifelab.se/publication/eb989235ef28426db5628c1f51c5dc4b"}}, "title": "VAV1 regulates experimental autoimmune arthritis and is associated with anti-CCP negative rheumatoid arthritis.", "authors": [{"family": "Guerreiro-Cacais", "given": "A O", "initials": "AO"}, {"family": "Norin", "given": "U", "initials": "U"}, {"family": "Gyllenberg", "given": "A", "initials": "A"}, {"family": "Berglund", "given": "R", "initials": "R"}, {"family": "Beyeen", "given": "A D", "initials": "AD"}, {"family": "Rheumatoid Arthritis Consortium International (RACI)", "given": "", "initials": ""}, {"family": "Petit-Teixeira", "given": "E", "initials": "E"}, {"family": "Corn\u00e9lis", "given": "F", "initials": "F"}, {"family": "Saoudi", "given": "A", "initials": "A"}, {"family": "Fourni\u00e9", "given": "G J", "initials": "GJ"}, {"family": "Holmdahl", "given": "R", "initials": "R"}, {"family": "Alfredsson", "given": "L", "initials": "L"}, {"family": "Klareskog", "given": "L", "initials": "L"}, {"family": "Jagodic", "given": "M", "initials": "M"}, {"family": "Olsson", "given": "T", "initials": "T"}, {"family": "Kockum", "given": "I", "initials": "I"}, {"family": "Padyukov", "given": "L", "initials": "L"}], "type": "comparative study", "published": "2017-01-00", "journal": {"volume": "18", "issn": "1476-5470", "issue": "1", "pages": "48-56", "title": "Genes Immun.", "issn-l": "1466-4879"}, "abstract": "Rheumatoid arthritis (RA) patients can be stratified into two subgroups defined by the presence or absence of antibodies against citrullinated circular peptides (anti-CCP) with most of the genetic association found in anti-CCP positive RA. Here we addressed the role of VAV1, previously associated to multiple sclerosis (MS), in the pathogenesis of RA in experimental models and in a genetic association study. Experimental arthritis triggered by pristane or collagen type II was induced in DA rats and in the DA.BN-R25 congenic line that carries a polymorphism in Vav1. Difference in arthritis severity was observed only after immunization with pristane. In a case-control study, 34 SNPs from VAV1 locus were analyzed by Immunochip genotyping in 11475 RA patients (7573 anti-CCP positive and 3902 negative) and 15,870 controls in six cohorts of European Caucasians. A combination of the previous MS-associated haplotype and two additional SNPs was associated with anti-CCP negative RA (alleles G-G-A-A of rs682626-rs2546133-rs2617822-rs12979659, OR=1.13, P=1.27 \u00d7 10 -5). The same markers also contributed to activity of RA at baseline with the strongest association in the anti-CCP negative group for the rs682626-rs12979659 G-A haplotype (\u03b2=-0.283, P=0.0048). Our study suggests a role for VAV1 and T-cell signaling in the pathology of anti-CCP-negative RA.", "doi": "10.1038/gene.2016.49", "pmid": "28053322", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "gene201649"}], "notes": [], "created": "2017-10-25T15:18:16.559Z", "modified": "2024-01-16T13:48:48.714Z"}, {"entity": "publication", "iuid": "a1bedfb1d5df4bb9b91d884d7eb30335", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a1bedfb1d5df4bb9b91d884d7eb30335.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a1bedfb1d5df4bb9b91d884d7eb30335"}}, "title": "The higher frequency of IgA deficiency among Swedish twins is not explained by HLA haplotypes.", "authors": [{"family": "Frankowiack", "given": "M", "initials": "M"}, {"family": "Kovanen", "given": "R-M", "initials": "RM"}, {"family": "Repasky", "given": "G A", "initials": "GA"}, {"family": "Lim", "given": "C K", "initials": "CK"}, {"family": "Song", "given": "C", "initials": "C"}, {"family": "Pedersen", "given": "N L", "initials": "NL"}, {"family": "Hammarstr\u00f6m", "given": "L", "initials": "L"}], "type": "journal article", "published": "2015-01-08", "journal": {"volume": "16", "issn": "1476-5470", "issue": "3", "pages": "199-205", "title": "Genes Immun.", "issn-l": "1466-4879"}, "abstract": "Serum immunoglobulin A (IgA) concentrations were determined in 12\u2009600 adult Swedish twins, applying a high-throughput reverse-phase protein microarray technique. The prevalence of IgA deficiency (IgAD) was found to be 1:241 in monozygotic (MZ) twins and 1:198 in dizygotic (DZ) twins. Hence, the prevalence in twins is markedly elevated as compared with the normal Swedish adult population (1:600). The twins did not show a difference in the frequency of HLA haplotypes in comparison with almost 40\u2009000 healthy Swedish controls. As expected, the risk-conveying HLA alleles A*01, B*08 and DRB1*01 were overrepresented among the IgAD twins and were also associated with significantly lower mean serum IgA concentrations in the twin cohort. In contrast, significantly higher mean IgA concentrations were found among individuals carrying the protective HLA alleles B*07 and DRB1*15. Exome sequencing data from two MZ twin pairs discordant for the deficiency showed no differences between the siblings. Model fitting analyses derived a heritability of 35% and indicate that genetic influences are modestly important for IgAD. The probandwise concordance rates for IgAD were found to be 31% for MZ and 13% for DZ twins.", "doi": "10.1038/gene.2014.78", "pmid": "25569265", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "pii", "key": "gene201478"}], "notes": [], "created": "2017-05-02T12:57:01.721Z", "modified": "2020-01-21T13:56:04.167Z"}, {"entity": "publication", "iuid": "803765ea306c4adb91b9b63b6c26996c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/803765ea306c4adb91b9b63b6c26996c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/803765ea306c4adb91b9b63b6c26996c"}}, "title": "Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility.", "authors": [{"family": "Wang", "given": "C", "initials": "C"}, {"family": "Ahlford", "given": "A", "initials": "A"}, {"family": "Laxman", "given": "N", "initials": "N"}, {"family": "Nordmark", "given": "G", "initials": "G"}, {"family": "Eloranta", "given": "M-L", "initials": "ML"}, {"family": "Gunnarsson", "given": "I", "initials": "I"}, {"family": "Svenungsson", "given": "E", "initials": "E"}, {"family": "Padyukov", "given": "L", "initials": "L"}, {"family": "Sturfelt", "given": "G", "initials": "G"}, {"family": "J\u00f6nsen", "given": "A", "initials": "A"}, {"family": "Bengtsson", "given": "A A", "initials": "AA"}, {"family": "Truedsson", "given": "L", "initials": "L"}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "S", "initials": "S"}, {"family": "Sj\u00f6wall", "given": "C", "initials": "C"}, {"family": "Sandling", "given": "J K", "initials": "JK"}, {"family": "R\u00f6nnblom", "given": "L", "initials": "L"}, {"family": "Syv\u00e4nen", "given": "A-C", "initials": "AC", "orcid": "0000-0002-9681-9146", "researcher": {"href": "https://publications.scilifelab.se/researcher/f7012e35025543379380cb90efd71243.json"}}], "type": "journal article", "published": "2013-06-00", "journal": {"volume": "14", "issn": "1476-5470", "issue": "4", "pages": "217-222", "title": "Genes Immun.", "issn-l": "1466-4879"}, "abstract": "The type I interferon system genes IKBKE and IFIH1 are associated with the risk of systemic lupus erythematosus (SLE). To identify the sequence variants that are able to account for the disease association, we resequenced the genes IKBKE and IFIH1. Eighty-six single-nucleotide variants (SNVs) with potentially functional effect or differences in allele frequencies between patients and controls determined by sequencing were further genotyped in 1140 SLE patients and 2060 controls. In addition, 108 imputed sequence variants in IKBKE and IFIH1 were included in the association analysis. Ten IKBKE SNVs and three IFIH1 SNVs were associated with SLE. The SNVs rs1539241 and rs12142086 tagged two independent association signals in IKBKE, and the haplotype carrying their risk alleles showed an odds ratio of 1.68 (P-value=1.0 \u00d7 10(-5)). The risk allele of rs12142086 affects the binding of splicing factor 1 in vitro and could thus influence its transcriptional regulatory function. Two independent association signals were also detected in IFIH1, which were tagged by a low-frequency SNV rs78456138 and a missense SNV rs3747517. Their joint effect is protective against SLE (odds ratio=0.56; P-value=6.6 \u00d7 10(-3)). In conclusion, we have identified new SLE-associated sequence variants in IKBKE and IFIH1, and proposed functional hypotheses for the association signals.", "doi": "10.1038/gene.2013.9", "pmid": "23535865", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "pii", "key": "gene20139"}], "notes": [], "created": "2017-05-04T15:01:18.482Z", "modified": "2021-07-07T15:11:02.253Z"}, {"entity": "publication", "iuid": "dfffc27ce20b4e9e828d6e5c0a0bb751", "links": {"self": {"href": "https://publications.scilifelab.se/publication/dfffc27ce20b4e9e828d6e5c0a0bb751.json"}, "display": {"href": "https://publications.scilifelab.se/publication/dfffc27ce20b4e9e828d6e5c0a0bb751"}}, "title": "No association of primary Sj\u00f6gren's syndrome with Fc\u03b3 receptor gene variants.", "authors": [{"family": "Haldorsen", "given": "K", "initials": "K"}, {"family": "Appel", "given": "S", "initials": "S"}, {"family": "Le Hellard", "given": "S", "initials": "S"}, {"family": "Bruland", "given": "O", "initials": "O"}, {"family": "Brun", "given": "J G", "initials": "JG"}, {"family": "Omdal", "given": "R", "initials": "R"}, {"family": "Kristjansdottir", "given": "G", "initials": "G"}, {"family": "Theander", "given": "E", "initials": "E"}, {"family": "Fernandes", "given": "C P D", "initials": "CP"}, {"family": "Kvarnstr\u00f6m", "given": "M", "initials": "M"}, {"family": "Eriksson", "given": "P", "initials": "P"}, {"family": "R\u00f6nnblom", "given": "L", "initials": "L"}, {"family": "Herlenius", "given": "M W", "initials": "MW"}, {"family": "Nordmark", "given": "G", "initials": "G"}, {"family": "Jonsson", "given": "R", "initials": "R"}, {"family": "Bolstad", "given": "A I", "initials": "AI"}], "type": "journal article", "published": "2013-06-00", "journal": {"volume": "14", "issn": "1476-5470", "issue": "4", "pages": "234-237", "title": "Genes Immun.", "issn-l": "1466-4879"}, "abstract": "The genetic background of primary Sj\u00f6gren's syndrome (pSS) is partly shared with systemic lupus erythematosus (SLE). Immunoglobulin G Fc receptors are important for clearance of immune complexes. Fc\u03b3 receptor variants and gene deletion have been found to confer SLE risk. In this study, four Fc\u03b3 receptor single-nucleotide polymorphisms (SNPs) and one copy number variation (CNV) were studied. Swedish and Norwegian pSS patients (N=527) and controls (N=528) were genotyped for the Fc\u03b3 receptor gene variant FCGR2A H131R (rs1801274) by the Illumina GoldenGate assay. FCGR3A F158V (rs396991) was analysed in 488 patients and 485 controls, FCGR3B rs447536 was analysed in 471 patients and 467 controls, and FCGR3B rs448740 was analysed in 478 cases and 455 controls, using TaqMan SNP genotyping assays. FCGR3B CNV was analysed in 124 patients and 139 controls using a TaqMan copy number assay. None of the SNPs showed any association with pSS. Also, no FCGR3B CNV association was detected. The lack of association of pSS with Fc\u03b3 receptor gene variants indicates that defective immune complex clearance may not be as important in pSS pathogenesis as in SLE, and may point to important differences between SLE and pSS.", "doi": "10.1038/gene.2013.12", "pmid": "23552400", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "pii", "key": "gene201312"}], "notes": [], "created": "2017-05-04T15:01:18.177Z", "modified": "2020-01-21T13:56:05.751Z"}, {"entity": "publication", "iuid": "01a2aabefb7442eab3fd126b52907d88", "links": {"self": {"href": "https://publications.scilifelab.se/publication/01a2aabefb7442eab3fd126b52907d88.json"}, "display": {"href": "https://publications.scilifelab.se/publication/01a2aabefb7442eab3fd126b52907d88"}}, "title": "Pathway-based analysis of genetic susceptibility to cervical cancer in situ: HLA-DPB1 affects risk in Swedish women.", "authors": [{"family": "Ivansson", "given": "E L", "initials": "EL"}, {"family": "Juko-Pecirep", "given": "I", "initials": "I"}, {"family": "Erlich", "given": "H A", "initials": "HA"}, {"family": "Gyllensten", "given": "U B", "initials": "UB"}], "type": "journal article", "published": "2011-12-00", "journal": {"volume": "12", "issn": "1476-5470", "issue": "8", "pages": "605-614", "title": "Genes Immun.", "issn-l": "1466-4879"}, "abstract": "We have conducted a pathway-based analysis of genome-wide single-nucleotide polymorphism (SNP) data in order to identify genetic susceptibility factors for cervical cancer in situ. Genotypes derived from Affymetrix 500k or 5.0 arrays for 1076 cases and 1426 controls were analyzed for association, and pathways with enriched signals were identified using the SNP ratio test. The most strongly associated KEGG (Kyoto Encyclopedia of Genes and Genomes) pathways were Asthma (empirical P=0.03), Folate biosynthesis (empirical P=0.04) and Graft-versus-host disease (empirical P=0.05). Among the 11 top-ranking pathways were 6 related to the immune response with the common denominator being genes in the major histocompatibility complex (MHC) region on chromosome 6. Further investigation of the MHC revealed a clear effect of HLA-DPB1 polymorphism on disease susceptibility. At a functional level, DPB1 alleles associated with risk and protection differ in key amino-acid residues affecting peptide-binding motifs in the extracellular domains. The results illustrate the value of pathway-based analysis to mine genome-wide data, and point to the importance of the MHC region and specifically the HLA-DPB1 locus for susceptibility to cervical cancer.", "doi": "10.1038/gene.2011.40", "pmid": "21716314", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (Uppsala Genome Center)": null}, "xrefs": [{"db": "pii", "key": "gene201140"}], "notes": [], "created": "2017-05-04T15:01:57.857Z", "modified": "2020-01-21T13:56:00.478Z"}, {"entity": "publication", "iuid": "360adb2100cc47fdb8d5f1cb573f8f70", "links": {"self": {"href": "https://publications.scilifelab.se/publication/360adb2100cc47fdb8d5f1cb573f8f70.json"}, "display": {"href": "https://publications.scilifelab.se/publication/360adb2100cc47fdb8d5f1cb573f8f70"}}, "title": "Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sj\u00f6gren's syndrome.", "authors": [{"family": "Nordmark", "given": "G", "initials": "G"}, {"family": "Kristjansdottir", "given": "G", "initials": "G"}, {"family": "Theander", "given": "E", "initials": "E"}, {"family": "Appel", "given": "S", "initials": "S"}, {"family": "Eriksson", "given": "P", "initials": "P"}, {"family": "Vasaitis", "given": "L", "initials": "L"}, {"family": "Kvarnstr\u00f6m", "given": "M", "initials": "M"}, {"family": "Delaleu", "given": "N", "initials": "N"}, {"family": "Lundmark", "given": "P", "initials": "P"}, {"family": "Lundmark", "given": "A", "initials": "A"}, {"family": "Sj\u00f6wall", "given": "C", "initials": "C"}, {"family": "Brun", "given": "J G", "initials": "JG"}, {"family": "Jonsson", "given": "M V", "initials": "MV"}, {"family": "Harboe", "given": "E", "initials": "E"}, {"family": "G\u00f8ransson", "given": "L G", "initials": "LG"}, {"family": "Johnsen", "given": "S J", "initials": "SJ"}, {"family": "S\u00f6derkvist", "given": "P", "initials": "P", "orcid": "0000-0001-9867-8706", "researcher": {"href": "https://publications.scilifelab.se/researcher/c1fc163b9a08421180f7f235af3897f4.json"}}, {"family": "Eloranta", "given": "M-L", "initials": "ML"}, {"family": "Alm", "given": "G", "initials": "G"}, {"family": "Baecklund", "given": "E", "initials": "E"}, {"family": "Wahren-Herlenius", "given": "M", "initials": "M"}, {"family": "Omdal", "given": "R", "initials": "R"}, {"family": "R\u00f6nnblom", "given": "L", "initials": "L"}, {"family": "Jonsson", "given": "R", "initials": "R"}, {"family": "Syv\u00e4nen", "given": "A-C", "initials": "AC", "orcid": "0000-0002-9681-9146", "researcher": {"href": "https://publications.scilifelab.se/researcher/f7012e35025543379380cb90efd71243.json"}}], "type": "journal article", "published": "2011-03-00", "journal": {"volume": "12", "issn": "1476-5470", "issue": "2", "pages": "100-109", "title": "Genes Immun.", "issn-l": "1466-4879"}, "abstract": "We performed a candidate gene association study in 540 patients with primary Sj\u00f6gren's Syndrome (SS) from Sweden (n=344) and Norway (n=196) and 532 controls (n=319 Swedish, n=213 Norwegian). A total of 1139 single-nucleotide polymorphisms (SNPs) in 84 genes were analyzed. In the meta-analysis of the Swedish and Norwegian cohorts, we found high signals for association between primary SS and SNPs in three gene loci, not previously associated with primary SS. These are the early B-cell factor 1 (EBF1) gene, P=9.9 \u00d7 10(-5), OR 1.68, the family with sequence similarity 167 member A-B-lymphoid tyrosine kinase (FAM167A-BLK) locus, P=4.7 \u00d7 10(-4), OR 1.37 and the tumor necrosis factor superfamily (TNFSF4=Ox40L) gene, P=7.4 \u00d7 10(-4), OR 1.34. We also confirmed the association between primary SS and the IRF5/TNPO3 locus and the STAT4 gene. We found no association between the SNPs in these five genes and the presence of anti-SSA/anti-SSB antibodies. EBF1, BLK and TNFSF4 are all involved in B-cell differentiation and activation, and we conclude that polymorphisms in several susceptibility genes in the immune system contribute to the pathogenesis of primary SS.", "doi": "10.1038/gene.2010.44", "pmid": "20861858", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "pii", "key": "gene201044"}], "notes": [], "created": "2017-05-04T15:00:44.878Z", "modified": "2021-07-07T15:11:02.247Z"}], "created": "2017-05-09T09:12:20.957Z", "modified": "2020-11-27T13:14:03.998Z"}