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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. Among authors: kristjansdottir h. 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.
FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.
Saevarsdottir S, Olafsdottir TA, Ivarsdottir EV, Halldorsson GH, Gunnarsdottir K, Sigurdsson A, Johannesson A, Sigurdsson JK, Juliusdottir T, Lund SH, Arnthorsson AO, Styrmisdottir EL, Gudmundsson J, Grondal GM, Steinsson K, Alfredsson L, Askling J, Benediktsson R, Bjarnason R, Geirsson AJ, Gudbjornsson B, Gudjonsson H, Hjaltason H, Hreidarsson AB, Klareskog L, Kockum I, Kristjansdottir H, Love TJ, Ludviksson BR, Olsson T, Onundarson PT, Orvar KB, Padyukov L, Sigurgeirsson B, Tragante V, Bjarnadottir K, Rafnar T, Masson G, Sulem P, Gudbjartsson DF, Melsted P, Thorleifsson G, Norddahl GL, Thorsteinsdottir U, Jonsdottir I, Stefansson K. Saevarsdottir S, et al. Among authors: kristjansdottir h. Nature. 2020 Aug;584(7822):619-623. doi: 10.1038/s41586-020-2436-0. Epub 2020 Jun 24. Nature. 2020. PMID: 32581359
Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations.
Olafsson S, Stridh P, Bos SD, Ingason A, Euesden J, Sulem P, Thorleifsson G, Gustafsson O, Johannesson A, Geirsson AJ, Thorsson AV, Sigurgeirsson B, Ludviksson BR, Olafsson E, Kristjansdottir H, Jonasson JG, Olafsson JH, Orvar KB, Benediktsson R, Bjarnason R, Kristjansdottir S, Gislason T, Valdimarsson T, Mikaelsdottir E, Sigurdsson S, Jonsson S, Rafnar T, Aarsland D, Djurovic S, Fladby T, Knudsen GP, Celius EG, Myhr KM, Grondal G, Steinsson K, Valdimarsson H, Bjornsson S, Bjornsdottir US, Bjornsson ES, Nilsson B, Andreassen OA, Alfredsson L, Hillert J, Kockum IS, Masson G, Thorsteinsdottir U, Gudbjartsson DF, Stefansson H, Hjaltason H, Harbo HF, Olsson T, Jonsdottir I, Stefansson K. Olafsson S, et al. Among authors: kristjansdottir h. NPJ Genom Med. 2017 Aug 8;2:24. doi: 10.1038/s41525-017-0027-2. eCollection 2017. NPJ Genom Med. 2017. PMID: 29263835 Free PMC article.
A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.
Prokunina L, Castillejo-López C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes AJ, Tentler D, Kristjansdóttir H, Gröndal G, Bolstad AI, Svenungsson E, Lundberg I, Sturfelt G, Jönssen A, Truedsson L, Lima G, Alcocer-Varela J, Jonsson R, Gyllensten UB, Harley JB, Alarcón-Segovia D, Steinsson K, Alarcón-Riquelme ME. Prokunina L, et al. Among authors: kristjansdottir h. Nat Genet. 2002 Dec;32(4):666-9. doi: 10.1038/ng1020. Epub 2002 Oct 28. Nat Genet. 2002. PMID: 12402038
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.
Sigurdsson S, Nordmark G, Göring HH, Lindroos K, Wiman AC, Sturfelt G, Jönsen A, Rantapää-Dahlqvist S, Möller B, Kere J, Koskenmies S, Widén E, Eloranta ML, Julkunen H, Kristjansdottir H, Steinsson K, Alm G, Rönnblom L, Syvänen AC. Sigurdsson S, et al. Among authors: kristjansdottir h. Am J Hum Genet. 2005 Mar;76(3):528-37. doi: 10.1086/428480. Epub 2005 Jan 18. Am J Hum Genet. 2005. PMID: 15657875 Free PMC article.
Association of three systemic lupus erythematosus susceptibility factors, PD-1.3A, C4AQ0, and low levels of mannan-binding lectin, with autoimmune manifestations in Icelandic multicase systemic lupus erythematosus families.
Kristjansdottir H, Saevarsdottir S, Gröndal G, Alarcón-Riquelme ME, Erlendsson K, Valdimarsson H, Steinsson K. Kristjansdottir H, et al. Arthritis Rheum. 2008 Dec;58(12):3865-72. doi: 10.1002/art.24129. Arthritis Rheum. 2008. PMID: 19035512 Free article.