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Page 1
A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways.
Kjærsgaard Andersen R, Stefansdottir L, Riis PT, Halldorsson G, Ferkingstad E, Oddsson A, Walters B, Olafsdottir TA, Rutsdottir G, Zachariae C, Thomsen SF, Brodersen T, Dinh KM, Knowlton KU, Knight S, Nadauld LD, Banasik K, Brunak S, Hansen TF, Hjalgrim H, Sørensen E, Mikkelsen C, Ullum H, Nyegaard M, Bruun MT, Erikstrup C, Ostrowski SR, Eidsmo L, Saunte DML, Sigurgeirsson B, Orvar KB, Saemundsdottir J, Melsted P, Norddahl GL, Sulem P, Stefansson H, Holm H, Gudbjartsson D, Thorleifsson G, Jonsdottir I, Pedersen OBV, Jemec GBE, Stefansson K. Kjærsgaard Andersen R, et al. Among authors: thorleifsson g. J Am Acad Dermatol. 2024 Dec 5:S0190-9622(24)03292-4. doi: 10.1016/j.jaad.2024.11.050. Online ahead of print. J Am Acad Dermatol. 2024. PMID: 39645042 Free article.
Sequence variants associated with BMI affect disease risk through BMI itself.
Einarsson G, Thorleifsson G, Steinthorsdottir V, Zink F, Helgason H, Olafsdottir T, Rognvaldsson S, Tragante V, Ulfarsson MO, Sveinbjornsson G, Snaebjarnarson AS, Einarsson H, Aegisdottir HM, Jonsdottir GA, Helgadottir A, Gretarsdottir S, Styrkarsdottir U, Arnason HK, Bjarnason R, Sigurdsson E, Arnar DO, Bjornsson ES, Palsson R, Bjornsdottir G, Stefansson H, Thorgeirsson T, Sulem P, Thorsteinsdottir U, Holm H, Gudbjartsson DF, Stefansson K. Einarsson G, et al. Among authors: thorleifsson g. Nat Commun. 2024 Nov 12;15(1):9335. doi: 10.1038/s41467-024-53568-9. Nat Commun. 2024. PMID: 39532837 Free PMC article.
Gene-based burden tests of rare germline variants identify six cancer susceptibility genes.
Ivarsdottir EV, Gudmundsson J, Tragante V, Sveinbjornsson G, Kristmundsdottir S, Stacey SN, Halldorsson GH, Magnusson MI, Oddsson A, Walters GB, Sigurdsson A, Saevarsdottir S, Beyter D, Thorleifsson G, Halldorsson BV, Melsted P, Stefansson H, Jonsdottir I, Sørensen E, Pedersen OB, Erikstrup C, Bøgsted M, Pøhl M, Røder A, Stroomberg HV, Gögenur I, Hillingsø J, Bojesen SE, Lassen U, Høgdall E, Ullum H, Brunak S, Ostrowski SR; DBDS Genomic Consortium; Sonderby IE, Frei O, Djurovic S, Havdahl A, Moller P, Dominguez-Valentin M, Haavik J, Andreassen OA, Hovig E, Agnarsson BA, Hilmarsson R, Johannsson OT, Valdimarsson T, Jonsson S, Moller PH, Olafsson JH, Sigurgeirsson B, Jonasson JG, Tryggvason G, Holm H, Sulem P, Rafnar T, Gudbjartsson DF, Stefansson K. Ivarsdottir EV, et al. Among authors: thorleifsson g. Nat Genet. 2024 Nov;56(11):2422-2433. doi: 10.1038/s41588-024-01966-6. Epub 2024 Oct 29. Nat Genet. 2024. PMID: 39472694
A partial loss-of-function variant in STAT6 protects against type 2 asthma.
Kristjansdottir K, Norddahl GL, Ivarsdottir EV, Halldorsson GH, Einarsson G, Bjarnadottir K, Rutsdottir G, Arnthorsson AO, Erikstrup C, Gudmundsdottir S, Gunnarsdottir K, Gunnbjornsdottir MI, Halldorsson BV, Holm H, Ludviksdottir D, Ludviksson BR, Brunak S, Bruun MT, Mikkelsen C, Mikkelsen S, Jensen BA, Sørensen E, Thomsen SF, Ullum H, Olafsson I, Onundarson PT, Ostrowski SR, Saevarsdottir S, Sigurdardottir O, Sigurgeirsson B, Snaebjarnarson AS, Sveinbjornsson G, Thorlacius GE, Thorleifsson G, Tragante V, Vidarsson B, Porsbjerg C, Bjornsdottir US, Sulem P, Gudbjartsson DF, Melsted P, Pedersen OB, Jonsdottir I, Olafsdottir TA, Stefansson K. Kristjansdottir K, et al. Among authors: thorleifsson g. J Allergy Clin Immunol. 2025 Jan;155(1):228-235. doi: 10.1016/j.jaci.2024.10.002. Epub 2024 Oct 16. J Allergy Clin Immunol. 2025. PMID: 39423878 Free article.
Sequence variants influencing the regulation of serum IgG subclass levels.
Olafsdottir TA, Thorleifsson G, Lopez de Lapuente Portilla A, Jonsson S, Stefansdottir L, Niroula A, Jonasdottir A, Eggertsson HP, Halldorsson GH, Thorlacius GE, Arnthorsson AO, Bjornsdottir US, Asselbergs FW, Bentlage AEH, Eyjolfsson GI, Gudmundsdottir S, Gunnarsdottir K, Halldorsson BV, Holm H, Ludviksson BR, Melsted P, Norddahl GL, Olafsson I, Saevarsdottir S, Sigurdardottir O, Sigurdsson A, Temming R, Önundarson PT, Thorsteinsdottir U, Vidarsson G, Sulem P, Gudbjartsson DF, Jonsdottir I, Nilsson B, Stefansson K. Olafsdottir TA, et al. Among authors: thorleifsson g. Nat Commun. 2024 Sep 14;15(1):8054. doi: 10.1038/s41467-024-52470-8. Nat Commun. 2024. PMID: 39277589 Free PMC article.
Genome-Wide Association Study of Accessory Atrioventricular Pathways.
Aegisdottir HM, Andreasen L, Thorolfsdottir RB, Sveinbjornsson G, Jonsdottir AB, Stefansdottir L, Thorleifsson G, Sigurdsson A, Halldorsson GH, Barc J, Simonet F, Tragante V, Oddsson A, Ferkingstad E, Svendsen JH, Ghouse J, Ahlberg G, Paludan-Müller C, Hadji-Turdeghal K, Bustamante M, Ulfarsson MO, Helgadottir A, Gretarsdottir S, Saevarsdottir S, Jonsdottir I, Erikstrup C, Ullum H, Sørensen E, Brunak S, Jøns C, Zheng C, Bezzina CR, Knowlton KU, Nadauld LD, Sulem P, Ostrowski SR, Pedersen OB, Arnar DO, Gudbjartsson DF, Olesen MS, Bundgaard H, Holm H, Stefansson K; DBDS consortium. Aegisdottir HM, et al. Among authors: thorleifsson g. JAMA Cardiol. 2024 Nov 1;9(11):1053-1058. doi: 10.1001/jamacardio.2024.2684. JAMA Cardiol. 2024. PMID: 39230897
Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency.
Oddsson A, Steinthorsdottir V, Oskarsson GR, Styrkarsdottir U, Moore KHS, Isberg S, Halldorsson GH, Sveinbjornsson G, Westergaard D, Nielsen HS, Fridriksdottir R, Jensson BO, Arnadottir GA, Jonsson H, Sturluson A, Snaebjarnarson AS, Andreassen OA, Walters GB, Nyegaard M, Erikstrup C, Steingrimsdottir T, Lie RT, Melsted P, Jonsdottir I, Halldorsson BV, Thorleifsson G, Saemundsdottir J, Magnusson OT; DBDS Genomic Consortium; Banasik K, Sorensen E, Masson G, Pedersen OB, Tryggvadottir L, Haavik J, Ostrowski SR, Stefansson H, Holm H, Rafnar T, Gudbjartsson DF, Sulem P, Stefansson K. Oddsson A, et al. Among authors: thorleifsson g. Nat Genet. 2024 Sep;56(9):1804-1810. doi: 10.1038/s41588-024-01885-6. Epub 2024 Aug 27. Nat Genet. 2024. PMID: 39192094 Free PMC article.
Deciphering the genetics and mechanisms of predisposition to multiple myeloma.
Went M, Duran-Lozano L, Halldorsson GH, Gunnell A, Ugidos-Damboriena N, Law P, Ekdahl L, Sud A, Thorleifsson G, Thodberg M, Olafsdottir T, Lamarca-Arrizabalaga A, Cafaro C, Niroula A, Ajore R, Lopez de Lapuente Portilla A, Ali Z, Pertesi M, Goldschmidt H, Stefansdottir L, Kristinsson SY, Stacey SN, Love TJ, Rognvaldsson S, Hajek R, Vodicka P, Pettersson-Kymmer U, Späth F, Schinke C, Van Rhee F, Sulem P, Ferkingstad E, Hjorleifsson Eldjarn G, Mellqvist UH, Jonsdottir I, Morgan G, Sonneveld P, Waage A, Weinhold N, Thomsen H, Försti A, Hansson M, Juul-Vangsted A, Thorsteinsdottir U, Hemminki K, Kaiser M, Rafnar T, Stefansson K, Houlston R, Nilsson B. Went M, et al. Among authors: thorleifsson g. Nat Commun. 2024 Aug 5;15(1):6644. doi: 10.1038/s41467-024-50932-7. Nat Commun. 2024. PMID: 39103364 Free PMC article.
Genome-wide association meta-analysis identifies five loci associated with postpartum hemorrhage.
Westergaard D, Steinthorsdottir V, Stefansdottir L, Rohde PD, Wu X, Geller F, Tyrmi J, Havulinna AS, Solé-Navais P, Flatley C, Ostrowski SR, Pedersen OB, Erikstrup C, Sørensen E, Mikkelsen C, Bruun MT, Aagaard Jensen B, Brodersen T, Ullum H; FinnGen; Danish Blood Donor Study Genomic Consortium; Estonian Biobank Research Team; Nordic Collaboration for Womens and Reproductive Health; Magnus P, Andreassen OA, Njolstad PR, Kolte AM, Krebs L, Nyegaard M, Hansen TF, Feenstra B, Daly M, Lindgren CM, Thorleifsson G, Stefansson OA, Sveinbjornsson G, Gudbjartsson DF, Thorsteinsdottir U, Banasik K, Jacobsson B, Laisk T, Laivuori H, Stefansson K, Brunak S, Nielsen HS. Westergaard D, et al. Among authors: thorleifsson g. Nat Genet. 2024 Aug;56(8):1597-1603. doi: 10.1038/s41588-024-01839-y. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039282 Free PMC article.
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.
Saevarsdottir S, Bjarnadottir K, Markusson T, Berglund J, Olafsdottir TA, Halldorsson GH, Rutsdottir G, Gunnarsdottir K, Arnthorsson AO, Lund SH, Stefansdottir L, Gudmundsson J, Johannesson AJ, Sturluson A, Oddsson A, Halldorsson B, Ludviksson BR, Ferkingstad E, Ivarsdottir EV, Sveinbjornsson G, Grondal G, Masson G, Eldjarn GH, Thorisson GA, Kristjansdottir K, Knowlton KU, Moore KHS, Gudjonsson SA, Rognvaldsson S, Knight S, Nadauld LD, Holm H, Magnusson OT, Sulem P, Gudbjartsson DF, Rafnar T, Thorleifsson G, Melsted P, Norddahl GL, Jonsdottir I, Stefansson K. Saevarsdottir S, et al. Among authors: thorleifsson g. Nat Commun. 2024 Jul 9;15(1):5748. doi: 10.1038/s41467-024-50007-7. Nat Commun. 2024. PMID: 38982041 Free PMC article.
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