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Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study.
Schlaikjær Hartwig T, Ambye L, Gruhn JR, Petersen JF, Wrønding T, Amato L, Chi-Ho Chan A, Ji B, Bro-Jørgensen MH, Werge L, Petersen MMBS, Brinkmann C, Petersen JB, Dunø M, Bache I, Herrgård MJ, Jørgensen FS, Hoffmann ER, Nielsen HS; COPL consortium. Schlaikjær Hartwig T, et al. Lancet. 2023 Mar 4;401(10378):762-771. doi: 10.1016/S0140-6736(22)02610-1. Epub 2023 Feb 2. Lancet. 2023. PMID: 36739882
Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset.
Saevarsdottir S, Stefansdottir L, Sulem P, Thorleifsson G, Ferkingstad E, Rutsdottir G, Glintborg B, Westerlind H, Grondal G, Loft IC, Sorensen SB, Lie BA, Brink M, Ärlestig L, Arnthorsson AO, Baecklund E, Banasik K, Bank S, Bjorkman LI, Ellingsen T, Erikstrup C, Frei O, Gjertsson I, Gudbjartsson DF, Gudjonsson SA, Halldorsson GH, Hendricks O, Hillert J, Hogdall E, Jacobsen S, Jensen DV, Jonsson H, Kastbom A, Kockum I, Kristensen S, Kristjansdottir H, Larsen MH, Linauskas A, Hauge EM, Loft AG, Ludviksson BR, Lund SH, Markusson T, Masson G, Melsted P, Moore KHS, Munk H, Nielsen KR, Norddahl GL, Oddsson A, Olafsdottir TA, Olason PI, Olsson T, Ostrowski SR, Hørslev-Petersen K, Rognvaldsson S, Sanner H, Silberberg GN, Stefansson H, Sørensen E, Sørensen IJ, Turesson C, Bergman T, Alfredsson L, Kvien TK, Brunak S, Steinsson K, Andersen V, Andreassen OA, Rantapää-Dahlqvist S, Hetland ML, Klareskog L, Askling J, Padyukov L, Pedersen OB, Thorsteinsdottir U, Jonsdottir I, Stefansson K; Members of the DBDS Genomic Consortium; Danish RA Genetics Working Group; Swedish Rheumatology Quality Register Biobank Study Group (SRQb). Saevarsdottir S, et al. Ann Rheum Dis. 2022 Aug;81(8):1085-1095. doi: 10.1136/annrheumdis-2021-221754. Epub 2022 Apr 25. Ann Rheum Dis. 2022. PMID: 35470158 Free PMC article.
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths.
Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs C, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY,… See abstract for full author list ➔ Bastard P, et al. Sci Immunol. 2021 Aug 19;6(62):eabl4340. doi: 10.1126/sciimmunol.abl4340. Sci Immunol. 2021. PMID: 34413139 Free PMC article.
Genetic variants associated with syncope implicate neural and autonomic processes.
Aegisdottir HM, Thorolfsdottir RB, Sveinbjornsson G, Stefansson OA, Gunnarsson B, Tragante V, Thorleifsson G, Stefansdottir L, Thorgeirsson TE, Ferkingstad E, Sulem P, Norddahl G, Rutsdottir G, Banasik K, Christensen AH, Mikkelsen C, Pedersen OB, Brunak S, Bruun MT, Erikstrup C, Jacobsen RL, Nielsen KR, Sørensen E, Frigge ML, Hjorleifsson KE, Ivarsdottir EV, Helgadottir A, Gretarsdottir S, Steinthorsdottir V, Oddsson A, Eggertsson HP, Halldorsson GH, Jones DA, Anderson JL, Knowlton KU, Nadauld LD; DBDS Genomic Consortium; Haraldsson M, Thorgeirsson G, Bundgaard H, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Ostrowski SR, Holm H, Stefansson K. Aegisdottir HM, et al. Eur Heart J. 2023 Mar 21;44(12):1070-1080. doi: 10.1093/eurheartj/ehad016. Eur Heart J. 2023. PMID: 36747475
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura.
Bjornsdottir G, Chalmer MA, Stefansdottir L, Skuladottir AT, Einarsson G, Andresdottir M, Beyter D, Ferkingstad E, Gretarsdottir S, Halldorsson BV, Halldorsson GH, Helgadottir A, Helgason H, Hjorleifsson Eldjarn G, Jonasdottir A, Jonasdottir A, Jonsdottir I, Knowlton KU, Nadauld LD, Lund SH, Magnusson OT, Melsted P, Moore KHS, Oddsson A, Olason PI, Sigurdsson A, Stefansson OA, Saemundsdottir J, Sveinbjornsson G, Tragante V, Unnsteinsdottir U, Walters GB, Zink F, Rødevand L, Andreassen OA, Igland J, Lie RT, Haavik J, Banasik K, Brunak S, Didriksen M, T Bruun M, Erikstrup C, Kogelman LJA, Nielsen KR, Sørensen E, Pedersen OB, Ullum H; DBDS Genetic Consortium; Masson G, Thorsteinsdottir U, Olesen J, Ludvigsson P, Thorarensen O, Bjornsdottir A, Sigurdardottir GR, Sveinsson OA, Ostrowski SR, Holm H, Gudbjartsson DF, Thorleifsson G, Sulem P, Stefansson H, Thorgeirsson TE, Hansen TF, Stefansson K. Bjornsdottir G, et al. Nat Genet. 2023 Nov;55(11):1843-1853. doi: 10.1038/s41588-023-01538-0. Epub 2023 Oct 26. Nat Genet. 2023. PMID: 37884687 Free PMC article.
Variants at the Interleukin 1 Gene Locus and Pericarditis.
Thorolfsdottir RB, Jonsdottir AB, Sveinbjornsson G, Aegisdottir HM, Oddsson A, Stefansson OA, Halldorsson GH, Saevarsdottir S, Thorleifsson G, Stefansdottir L, Pedersen OB, Sørensen E, Ghouse J, Raja AA, Zheng C, Silajdzija E, Rand SA, Erikstrup C, Ullum H, Mikkelsen C, Banasik K, Brunak S, Ivarsdottir EV, Sigurdsson A, Beyter D, Sturluson A, Einarsson H, Tragante V, Helgason H, Lund SH, Halldorsson BV, Sigurpalsdottir BD, Olafsson I, Arnar DO, Thorgeirsson G, Knowlton KU, Nadauld LD, Gretarsdottir S, Helgadottir A, Ostrowski SR, Gudbjartssson DF, Jonsdottir I, Bundgaard H, Holm H, Sulem P, Stefansson K; Danish Blood Donor Study Genomic Consortium. Thorolfsdottir RB, et al. JAMA Cardiol. 2024 Feb 1;9(2):165-172. doi: 10.1001/jamacardio.2023.4820. JAMA Cardiol. 2024. PMID: 38150231
The sequences of 150,119 genomes in the UK Biobank.
Halldorsson BV, Eggertsson HP, Moore KHS, Hauswedell H, Eiriksson O, Ulfarsson MO, Palsson G, Hardarson MT, Oddsson A, Jensson BO, Kristmundsdottir S, Sigurpalsdottir BD, Stefansson OA, Beyter D, Holley G, Tragante V, Gylfason A, Olason PI, Zink F, Asgeirsdottir M, Sverrisson ST, Sigurdsson B, Gudjonsson SA, Sigurdsson GT, Halldorsson GH, Sveinbjornsson G, Norland K, Styrkarsdottir U, Magnusdottir DN, Snorradottir S, Kristinsson K, Sobech E, Jonsson H, Geirsson AJ, Olafsson I, Jonsson P, Pedersen OB, Erikstrup C, Brunak S, Ostrowski SR; DBDS Genetic Consortium; Thorleifsson G, Jonsson F, Melsted P, Jonsdottir I, Rafnar T, Holm H, Stefansson H, Saemundsdottir J, Gudbjartsson DF, Magnusson OT, Masson G, Thorsteinsdottir U, Helgason A, Jonsson H, Sulem P, Stefansson K. Halldorsson BV, et al. Nature. 2022 Jul;607(7920):732-740. doi: 10.1038/s41586-022-04965-x. Epub 2022 Jul 20. Nature. 2022. PMID: 35859178 Free PMC article.
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
Bjornsdottir G, Stefansdottir L, Thorleifsson G, Sulem P, Norland K, Ferkingstad E, Oddsson A, Zink F, Lund SH, Nawaz MS, Bragi Walters G, Skuladottir AT, Gudjonsson SA, Einarsson G, Halldorsson GH, Bjarnadottir V, Sveinbjornsson G, Helgadottir A, Styrkarsdottir U, Gudmundsson LJ, Pedersen OB, Hansen TF, Werge T, Banasik K, Troelsen A, Skou ST, Thørner LW, Erikstrup C, Nielsen KR, Mikkelsen S; DBDS Genetic Consortium; GO Consortium; Jonsdottir I, Bjornsson A, Olafsson IH, Ulfarsson E, Blondal J, Vikingsson A, Brunak S, Ostrowski SR, Ullum H, Thorsteinsdottir U, Stefansson H, Gudbjartsson DF, Thorgeirsson TE, Stefansson K. Bjornsdottir G, et al. Nat Commun. 2022 Feb 2;13(1):634. doi: 10.1038/s41467-022-28167-1. Nat Commun. 2022. PMID: 35110524 Free PMC article.
Cholesterol not particle concentration mediates the atherogenic risk conferred by apolipoprotein B particles: a Mendelian randomization analysis.
Helgadottir A, Thorleifsson G, Snaebjarnarson A, Stefansdottir L, Sveinbjornsson G, Tragante V, Björnsson E, Steinthorsdottir V, Gretarsdottir S, Helgason H, Saemundsdottir J, Olafsson I, Thune JJ, Raja AA, Ghouse J, Olesen MS, Christensen A, Jacobsen RL, Dowsett J, Bruun MT, Nielsen K, Knowlton K, Nadauld L, Benediktsson R, Erikstrup C, Pedersen OB, Banasik K, Brunak S; DBDS Genomic Consortium; Bundgaard H, Ostrowski SR, Sulem P, Arnar DO, Thorgeirsson G, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K, Holm H. Helgadottir A, et al. Eur J Prev Cardiol. 2022 Dec 21;29(18):2374-2385. doi: 10.1093/eurjpc/zwac219. Eur J Prev Cardiol. 2022. PMID: 36125206
24 results