{"entity": "researcher", "timestamp": "2026-06-15T18:01:22.359Z", "family": "Torinsson Naluai", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-0504-6492", "affiliations": ["Department of Laboratory Medicine, Institute of Biomedicine and Biobank Core Facility, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/bcf3474dc7054c598cbe3a195deb8a1b.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/bcf3474dc7054c598cbe3a195deb8a1b"}}, "publications": [{"entity": "publication", "iuid": "6091da69a89748ddb71ea83d5824cd31", "links": {"self": {"href": "https://publications.scilifelab.se/publication/6091da69a89748ddb71ea83d5824cd31.json"}, "display": {"href": "https://publications.scilifelab.se/publication/6091da69a89748ddb71ea83d5824cd31"}}, "title": "Whole genome transcriptional analysis of intestinal biopsies and blood cells indicate genes involved in antioxidant defense systems, amino acid metabolism and antigen presentation in the pathogenesis of celiac disease.", "authors": [{"family": "Torinsson Naluai", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-0504-6492", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcf3474dc7054c598cbe3a195deb8a1b.json"}}, {"family": "Sabbag", "given": "Shafir", "initials": "S"}, {"family": "Abrahamsson", "given": "Sanna", "initials": "S"}, {"family": "Gudj\u00f3nsd\u00f3ttir", "given": "Audur H", "initials": "AH"}, {"family": "Arnell", "given": "Henrik", "initials": "H"}, {"family": "Agardh", "given": "Daniel", "initials": "D"}], "type": "journal article", "published": "2025-08-29", "journal": {"title": "BMC Med", "issn": "1741-7015", "volume": "23", "issue": "1", "pages": "507", "issn-l": "1741-7015"}, "abstract": "Celiac disease is associated with HLA-risk haplotypes, but non-HLA genes and environmental factors are also linked to disease susceptibility. In this study, we explore the molecular pathways involved in celiac disease by analyzing the differential expression of genes in both the gut and peripheral blood across various celiac disease phenotypes.\n\nWhole genome RNA sequencing was performed on 283 samples from intestinal mucosa and peripheral blood from 72 cases with either active, potential, or treated celiac disease and 73 disease controls. Enrichr pathway analysis of top differentially expressed genes was performed.\n\nOverall, 7565 genes in intestinal biopsies and 542 genes in blood samples were differentially expressed between cases and controls. Compared with controls, immunoglobulin heavy variable 5-51 (IGHV5-51) (p = 1.05 \u00d7 10-14) and tissue transglutaminase (TGM2) (p = 5.29 \u00d7 10-10), encoding for TG2, the main autoantigen in celiac disease, were two of the top up-regulated genes in intestinal biopsies from celiac cases. TGM2 was also slightly upregulated in blood cells from cases with active disease compared with controls (p = 0.05). The topmost differentially expressed genes in peripheral blood were HLA-DQB1, HLA-DQB2, and GSTM1. Among pathways identified containing transcriptionally differentiated genes were antioxidant defense systems (e.g., nuclear factor (erythroid-derived 2)-like 2 (Nrf2), glutathione, ergothioneine, and peroxisome metabolism), as well as MHC class 1 antigen presentation, amino acid transport, mTORC1, bilirubin and lipid metabolism, liver homeostasis, the complement system, and interferon signaling.\n\nDifferentially expressed genes in cases and controls indicate crosstalk between molecular pathways involved in antioxidant defense, immune regulation, and nutrient signaling in the pathogenesis of celiac disease.", "doi": "10.1186/s12916-025-04261-1", "pmid": "40883722", "labels": {"NGI Short read": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC12398127"}, {"db": "pii", "key": "10.1186/s12916-025-04261-1"}], "notes": [], "created": "2025-09-08T07:11:35.688Z", "modified": "2025-09-18T07:36:17.364Z"}, {"entity": "publication", "iuid": "914ba3f9eb6f4bed942f6cabc548b913", "links": {"self": {"href": "https://publications.scilifelab.se/publication/914ba3f9eb6f4bed942f6cabc548b913.json"}, "display": {"href": "https://publications.scilifelab.se/publication/914ba3f9eb6f4bed942f6cabc548b913"}}, "title": "Unraveling the role of early coeliac disease diagnosis in the risk of developing immune-mediated renal diseases.", "authors": [{"family": "De Luca", "given": "Francesco", "initials": "F"}, {"family": "Nilsson", "given": "Staffan", "initials": "S"}, {"family": "Truv\u00e9", "given": "Katarina", "initials": "K", "orcid": "0000-0002-2449-8283", "researcher": {"href": "https://publications.scilifelab.se/researcher/0c36d2ff5111435aa23416cdfc359b2d.json"}}, {"family": "Kuhn", "given": "Hans-Georg", "initials": "HG"}, {"family": "Ejesk\u00e4r", "given": "Katarina", "initials": "K", "orcid": "0000-0001-8962-0860", "researcher": {"href": "https://publications.scilifelab.se/researcher/9c79e724c1954cf39f5511f7a6021513.json"}}, {"family": "Haraldsson", "given": "B\u00f6rje", "initials": "B"}, {"family": "Torinsson Naluai", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-0504-6492", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcf3474dc7054c598cbe3a195deb8a1b.json"}}], "type": "journal article", "published": "2025-03-03", "journal": {"title": "BMC Gastroenterol", "issn": "1471-230X", "volume": "25", "issue": "1", "pages": "125", "issn-l": null}, "abstract": "coeliac disease (CD) is an inflammatory condition of the small intestine caused by immunological intolerance towards dietary gluten. Associations between CD and other autoimmune disorders have been extensively reported. However, the risk in CD patients of developing immune-mediated renal diseases (IMRDs) as a function of the duration of exposure to gluten remains uncharacterized.\n\nwe used data from the Swedish national patient register to retrospectively construct two subcohorts of CD patients by either years before or after CD diagnosis, matched by sex and age to reference individuals (ratio 1:6). Adopting cox regressions, we assessed the risk in CD to develop IMRDs.\n\nwe found that unrecognized CD patients had a higher risk to develop the majority of the IMRDs here investigated compared with matched reference individuals. Following a CD diagnosis, the risk was reduced in eight of the twelve IMRDs. Furthermore, if patients were diagnosed with CD earlier in childhood they showed less or no increased risk to develop IMRDs compared with reference individuals. CD patients diagnosed by the age of 15 had an overall 12% increased risk of developing any IMRD, (HR: 1.12; CI = 1.02, 1.24; p < 0.02), as those with a CD diagnosis between 16 and 30 years of age had a 60% increased risk of developing IMRD (HR: 1.61; CI = 1.36, 1.91; p < 0.001).\n\nOur data show that individuals diagnosed with CD at an earlier age have a lower risk of developing immune-mediated kidney conditions.", "doi": "10.1186/s12876-025-03705-5", "pmid": "40025438", "labels": {"Clinical Genomics Gothenburg": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC11874109"}, {"db": "pii", "key": "10.1186/s12876-025-03705-5"}], "notes": [], "created": "2025-07-08T13:52:51.209Z", "modified": "2025-11-04T11:53:51.029Z"}, {"entity": "publication", "iuid": "111154cd228d47fabf63f871f677a0d7", "links": {"self": {"href": "https://publications.scilifelab.se/publication/111154cd228d47fabf63f871f677a0d7.json"}, "display": {"href": "https://publications.scilifelab.se/publication/111154cd228d47fabf63f871f677a0d7"}}, "title": "Proteome profiling of home-sampled dried blood spots reveals proteins of SARS-CoV-2 infections.", "authors": [{"family": "Fredolini", "given": "Claudia", "initials": "C", "orcid": "0000-0002-7674-2014", "researcher": {"href": "https://publications.scilifelab.se/researcher/40ac3a5823cb4f998cc8bdb96dcbf195.json"}}, {"family": "Dodig-Crnkovi\u0107", "given": "Tea", "initials": "T"}, {"family": "Bendes", "given": "Annika", "initials": "A", "orcid": "0000-0001-9329-2353", "researcher": {"href": "https://publications.scilifelab.se/researcher/50dffce4f4444dd8b5ff8f9294146a0b.json"}}, {"family": "Dahl", "given": "Leo", "initials": "L", "orcid": "0000-0003-1492-3052", "researcher": {"href": "https://publications.scilifelab.se/researcher/d4df506f315c4289935b935a503efd56.json"}}, {"family": "Dale", "given": "Matilda", "initials": "M", "orcid": "0000-0002-5788-7744", "researcher": {"href": "https://publications.scilifelab.se/researcher/59306e7e902048829efb30599ee3d2b1.json"}}, {"family": "Albrecht", "given": "Vincent", "initials": "V", "orcid": "0009-0003-1985-7733", "researcher": {"href": "https://publications.scilifelab.se/researcher/4d422e623e9e449f98853e6830cdd401.json"}}, {"family": "Mattsson", "given": "Cecilia", "initials": "C"}, {"family": "Thomas", "given": "Cecilia E", "initials": "CE", "orcid": "0000-0001-6201-6380", "researcher": {"href": "https://publications.scilifelab.se/researcher/3a1156f987764218af202efbd76c31fd.json"}}, {"family": "Torinsson Naluai", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-0504-6492", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcf3474dc7054c598cbe3a195deb8a1b.json"}}, {"family": "Gisslen", "given": "Magnus", "initials": "M"}, {"family": "Beck", "given": "Olof", "initials": "O"}, {"family": "Roxhed", "given": "Niclas", "initials": "N", "orcid": "0000-0002-7147-6730", "researcher": {"href": "https://publications.scilifelab.se/researcher/3739210caaf14a28898849f20bf6ece5.json"}}, {"family": "Schwenk", "given": "Jochen M", "initials": "JM", "orcid": "0000-0001-8141-8449", "researcher": {"href": "https://publications.scilifelab.se/researcher/aba5822711b246b397fffacb7ae403b3.json"}}], "type": "journal article", "published": "2024-04-02", "journal": {"title": "Commun Med (Lond)", "issn": "2730-664X", "issn-l": null, "volume": "4", "issue": "1", "pages": "55"}, "abstract": "Self-sampling of dried blood spots (DBS) offers new routes to gather valuable health-related information from the general population. Yet, the utility of using deep proteome profiling from home-sampled DBS to obtain clinically relevant insights about SARS-CoV-2 infections remains largely unexplored.\r\n\r\nOur study involved 228 individuals from the general Swedish population who used a volumetric DBS sampling device and completed questionnaires at home during spring 2020 and summer 2021. Using multi-analyte COVID-19 serology, we stratified the donors by their response phenotypes, divided them into three study sets, and analyzed 276 proteins by proximity extension assays (PEA). After normalizing the data to account for variances in layman-collected samples, we investigated the association of DBS proteomes with serology and self-reported information.\r\n\r\nOur three studies display highly consistent variance of protein levels and share associations of proteins with sex (e.g., MMP3) and age (e.g., GDF-15). Studying seropositive (IgG+) and seronegative (IgG-) donors from the first pandemic wave reveals a network of proteins reflecting immunity, inflammation, coagulation, and stress response. A comparison of the early-infection phase (IgM+IgG-) with the post-infection phase (IgM-IgG+) indicates several proteins from the respiratory system. In DBS from the later pandemic wave, we find that levels of a virus receptor on B-cells differ between seropositive (IgG+) and seronegative (IgG-) donors.\r\n\r\nProteome analysis of volumetric self-sampled DBS facilitates precise analysis of clinically relevant proteins, including those secreted into the circulation or found on blood cells, augmenting previous COVID-19 reports with clinical blood collections. Our population surveys support the usefulness of DBS, underscoring the role of timing the sample collection to complement clinical and precision health monitoring initiatives.", "doi": "10.1038/s43856-024-00480-4", "pmid": "38565620", "labels": {"Affinity Proteomics Stockholm": "Technology development", "Autoimmunity and Serology Profiling": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10987641"}, {"db": "pii", "key": "10.1038/s43856-024-00480-4"}], "notes": [], "created": "2024-04-18T09:27:59.211Z", "modified": "2024-08-28T11:04:43.993Z"}, {"entity": "publication", "iuid": "be695a433fa7423e9418d12e55b4d672", "links": {"self": {"href": "https://publications.scilifelab.se/publication/be695a433fa7423e9418d12e55b4d672.json"}, "display": {"href": "https://publications.scilifelab.se/publication/be695a433fa7423e9418d12e55b4d672"}}, "title": "Loss of Y in leukocytes as a risk factor for critical COVID-19 in men", "authors": [{"family": "Bruhn-Olszewska", "given": "Bo\u017cena", "initials": "B", "orcid": "0000-0003-2141-0247", "researcher": {"href": "https://publications.scilifelab.se/researcher/0fa96509bbe94834858aee3c16d41b97.json"}}, {"family": "Davies", "given": "Hanna", "initials": "H", "orcid": "0000-0002-6289-3815", "researcher": {"href": "https://publications.scilifelab.se/researcher/1d800ab99360483d8bd12ba4b386a4a4.json"}}, {"family": "Sarkisyan", "given": "Daniil", "initials": "D", "orcid": "0000-0002-2451-4386", "researcher": {"href": "https://publications.scilifelab.se/researcher/44fdd52fbf5d420396c87a31addea920.json"}}, {"family": "Juhas", "given": "Ulana", "initials": "U", "orcid": "0000-0001-8393-5845", "researcher": {"href": "https://publications.scilifelab.se/researcher/851c9b9c7ba943d6836633f8bd5003bd.json"}}, {"family": "Rychlicka-Buniowska", "given": "Edyta", "initials": "E", "orcid": "0000-0001-8050-2489", "researcher": {"href": "https://publications.scilifelab.se/researcher/9b253253073749839c443de3003ecb89.json"}}, {"family": "W\u00f3jcik", "given": "Magdalena", "initials": "M", "orcid": "0000-0001-5475-8448", "researcher": {"href": "https://publications.scilifelab.se/researcher/cbf367a185b347c6a9bf6b6f2adfe6e5.json"}}, {"family": "Horbacz", "given": "Monika", "initials": "M", "orcid": "0000-0003-1644-2957", "researcher": {"href": "https://publications.scilifelab.se/researcher/76c7f6d571214ca9a6940293c3dbc6c1.json"}}, {"family": "J\u0105kalski", "given": "Marcin", "initials": "M", "orcid": "0000-0002-5481-9148", "researcher": {"href": "https://publications.scilifelab.se/researcher/e4411ec776b94c89b0444bd8d49672ca.json"}}, {"family": "Olszewski", "given": "Pawe\u0142", "initials": "P", "orcid": "0000-0002-2788-5254", "researcher": {"href": "https://publications.scilifelab.se/researcher/214b8864edb24164a1c9af68396603b9.json"}}, {"family": "Westholm", "given": "Jakub O", "initials": "JO", "orcid": "0000-0002-6849-6220", "researcher": {"href": "https://publications.scilifelab.se/researcher/161d8b5fb6734b33ad5f5590edbc0cff.json"}}, {"family": "Smialowska", "given": "Agata", "initials": "A"}, {"family": "Wierzba", "given": "Karol", "initials": "K", "orcid": "0000-0003-1257-4047", "researcher": {"href": "https://publications.scilifelab.se/researcher/ddedb819ee5d4e33b0382e87e7369dec.json"}}, {"family": "Torinsson Naluai", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-0504-6492", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcf3474dc7054c598cbe3a195deb8a1b.json"}}, {"family": "Jern", "given": "Niklas", "initials": "N"}, {"family": "Andersson", "given": "Lars Magnus", "initials": "LM", "orcid": "0000-0002-9203-5969", "researcher": {"href": "https://publications.scilifelab.se/researcher/da6e24cc65a14537ad30353de972cd5f.json"}}, {"family": "J\u00e4rhult", "given": "Josef D", "initials": "JD", "orcid": "0000-0002-7075-1059", "researcher": {"href": "https://publications.scilifelab.se/researcher/2598129f86ee47ebafc696148f9da01f.json"}}, {"family": "Filipowicz", "given": "Natalia", "initials": "N", "orcid": "0000-0002-9673-2649", "researcher": {"href": "https://publications.scilifelab.se/researcher/153a4d73f8cb4ec68cedfd85556e383e.json"}}, {"family": "Tiensuu Janson", "given": "Eva", "initials": "E", "orcid": "0000-0002-1649-4880", "researcher": {"href": "https://publications.scilifelab.se/researcher/3838152188ee4e2580d139757ecd8df8.json"}}, {"family": "Rubertsson", "given": "Sten", "initials": "S"}, {"family": "Lipcsey", "given": "Mikl\u00f3s", "initials": "M", "orcid": "0000-0002-1976-4129", "researcher": {"href": "https://publications.scilifelab.se/researcher/81805f2324634628abefcf0ab6ce6a15.json"}}, {"family": "Gissl\u00e9n", "given": "Magnus", "initials": "M", "orcid": "0000-0002-2357-1020", "researcher": {"href": "https://publications.scilifelab.se/researcher/8b50df8c8ecc45b89574dc76e244b07e.json"}}, {"family": "Hultstr\u00f6m", "given": "Michael", "initials": "M", "orcid": "0000-0003-4675-1099", "researcher": {"href": "https://publications.scilifelab.se/researcher/c9a74d3380a24c31930e6e671e685b5b.json"}}, {"family": "Frithiof", "given": "Robert", "initials": "R", "orcid": "0000-0003-2278-7951", "researcher": {"href": "https://publications.scilifelab.se/researcher/8fec11dd18f941b7842610ad14237a35.json"}}, {"family": "Dumanski", "given": "Jan P", "initials": "JP", "orcid": "0000-0002-1489-1452", "researcher": {"href": "https://publications.scilifelab.se/researcher/15b14282209342cfa9c82cdbf02999f6.json"}}], "type": "journal-article", "published": "2022-12-14", "journal": {"title": "Genome Med", "issn": "1756-994X", "issn-l": "1756-994X", "volume": "14", "issue": "1", "pages": "139"}, "abstract": "The COVID-19 pandemic, which has a prominent social and economic impact worldwide, shows a largely unexplained male bias for the severity and mortality of the disease. Loss of chromosome Y (LOY) is a risk factor candidate in COVID-19 due to its prior association with many chronic age-related diseases, and its impact on immune gene transcription.\n\nPublicly available scRNA-seq data of PBMC samples derived from male patients critically ill with COVID-19 were reanalyzed, and LOY status was added to the annotated cells. We further studied LOY in whole blood for 211 COVID-19 patients treated at intensive care units (ICU) from the first and second waves of the pandemic. Of these, 139 patients were subject to cell sorting for LOY analysis in granulocytes, low-density neutrophils (LDNs), monocytes, and PBMCs.\n\nReanalysis of available scRNA-seq data revealed LDNs and monocytes as the cell types most affected by LOY. Subsequently, DNA analysis indicated that 46%, 32%, and 29% of critically ill patients showed LOY above 5% cut-off in LDNs, granulocytes, and monocytes, respectively. Hence, the myeloid lineage that is crucial for the development of severe COVID-19 phenotype is affected by LOY. Moreover, LOY correlated with increasing WHO score (median difference 1.59%, 95% HDI 0.46% to 2.71%, p=0.025), death during ICU treatment (median difference 1.46%, 95% HDI 0.47% to 2.43%, p=0.0036), and history of vessel disease (median difference 2.16%, 95% HDI 0.74% to 3.7%, p=0.004), among other variables. In 16 recovered patients, sampled during ICU stay and 93-143 days later, LOY decreased significantly in whole blood and PBMCs. Furthermore, the number of LDNs at the recovery stage decreased dramatically (median difference 76.4 per 10,000 cell sorting events, 95% HDI 55.5 to 104, p=6e-11).\n\nWe present a link between LOY and an acute, life-threatening infectious disease. Furthermore, this study highlights LOY as the most prominent clonal mutation affecting the myeloid cell lineage during emergency myelopoiesis. The correlation between LOY level and COVID-19 severity might suggest that this mutation affects the functions of monocytes and neutrophils, which could have consequences for male innate immunity.", "doi": "10.1186/s13073-022-01144-5", "pmid": "36514076", "labels": {"Bioinformatics Support, Infrastructure and Training": "Collaborative", "Bioinformatics Long-term Support WABI": "Collaborative", "Bioinformatics Support and Infrastructure": "Collaborative", "Bioinformatics (NBIS)": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC9747543"}, {"db": "pii", "key": "10.1186/s13073-022-01144-5"}], "notes": [], "created": "2022-12-20T08:30:45.356Z", "modified": "2023-06-19T09:07:39.861Z"}]}