Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

Autor: Asmundur Oddsson, Patrick Sulem, Gardar Sveinbjornsson, Gudny A. Arnadottir, Valgerdur Steinthorsdottir, Gisli H. Halldorsson, Bjarni A. Atlason, Gudjon R. Oskarsson, Hannes Helgason, Henriette Svarre Nielsen, David Westergaard, Juha M. Karjalainen, Hildigunnur Katrinardottir, Run Fridriksdottir, Brynjar O. Jensson, Vinicius Tragante, Egil Ferkingstad, Hakon Jonsson, Sigurjon A. Gudjonsson, Doruk Beyter, Kristjan H. S. Moore, Helga B. Thordardottir, Snaedis Kristmundsdottir, Olafur A. Stefansson, Solbritt Rantapää-Dahlqvist, Ida Elken Sonderby, Maria Didriksen, Pernilla Stridh, Jan Haavik, Laufey Tryggvadottir, Oleksandr Frei, G. Bragi Walters, Ingrid Kockum, Henrik Hjalgrim, Thorunn A. Olafsdottir, Geir Selbaek, Mette Nyegaard, Christian Erikstrup, Thorsten Brodersen, Saedis Saevarsdottir, Tomas Olsson, Kaspar Rene Nielsen, Asgeir Haraldsson, Mie Topholm Bruun, Thomas Folkmann Hansen, DBDS Genomic Consortium, Thora Steingrimsdottir, Rikke Louise Jacobsen, Rolv T. Lie, Srdjan Djurovic, Lars Alfredsson, Aitzkoa Lopez de Lapuente Portilla, Soren Brunak, Pall Melsted, Bjarni V. Halldorsson, Jona Saemundsdottir, Olafur Th. Magnusson, Leonid Padyukov, Karina Banasik, Thorunn Rafnar, Johan Askling, Lars Klareskog, Ole Birger Pedersen, Gisli Masson, Alexandra Havdahl, Bjorn Nilsson, Ole A. Andreassen, Mark Daly, Sisse Rye Ostrowski, Ingileif Jonsdottir, Hreinn Stefansson, Hilma Holm, Agnar Helgason, Unnur Thorsteinsdottir, Kari Stefansson, Daniel F. Gudbjartsson

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)

Abstract Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit of homozygos

Externí odkaz: https://doaj.org/article/a4fa595277a74ef2949c5d74d9c4032d

Comparative cardiovascular safety with janus kinase inhibitors and biological disease-modifying antirheumatic drugs as used in clinical practice: an observational cohort study from Sweden in patients with rheumatoid arthritis

Autor: Johan Askling, Thomas Frisell, Daniela Di Giuseppe, Bénédicte Delcoigne, Hannah Bower

Publikováno v: RMD Open, Vol 9, Iss 4 (2023)

Objectives To compare the incidence of cardiovascular (CV) events in rheumatoid arthritis (RA) treated with janus kinase inhibitors (JAKi), tumour necrosis factor inhibitors (TNFi), or other biological disease-modifying antirheumatic drugs (bDMARDs),

Externí odkaz: https://doaj.org/article/13ca1d25b22946f7bdf182d086598d14

Are JAKis more effective among elderly patients with RA, smokers and those with higher cardiovascular risk? A comparative effectiveness study of b/tsDMARDs in Sweden

Autor: Johan Askling, Katerina Chatzidionysiou, Carl Turesson, Elisabet Lindqvist, Thomas Frisell, Daniela Di Giuseppe, Helena Forsblad-d'Elia, Bénédicte Delcoigne, Hannah Bower, Ann Knight

Publikováno v: RMD Open, Vol 9, Iss 4 (2023)

Objectives To investigate whether the relative effectiveness of janus kinase inhibitors (JAKis) versus tumour necrosis factor inhibitors (TNFi) or other biological disease-modifying antirheumatic drugs in rheumatoid arthritis differ by the presence o

Externí odkaz: https://doaj.org/article/61ef33b0f5f94347a7860d98e3fa47c3

Evaluation of VTE, MACE, and Serious Infections Among Patients with RA Treated with Baricitinib Compared to TNFi: A Multi-Database Study of Patients in Routine Care Using Disease Registries and Claims Databases

Autor: Claudia A. Salinas, Anthony Louder, Jennifer Polinski, Tancy C. Zhang, Hannah Bower, Syd Phillips, Yufei Song, Emaan Rashidi, Rafia Bosan, Hsiu-Ching Chang, Nicole Foster, Bernice Gershenson, Hisashi Yamanaka, Mitsumasa Kishimoto, Yoshiya Tanaka, Peter Fischer, Baojin Zhu, Douglas Faries, Xiaodan Mai, Brett T. Doherty, Angela Grelaud, Nicolas H. Thurin, Johan Askling, Walter Deberdt, the B023 Study Consortium

Publikováno v: Rheumatology and Therapy, Vol 10, Iss 1, Pp 201-223 (2022)

Abstract Introduction The aim of this work is to evaluate baricitinib safety with respect to venous thromboembolism (VTE), major adverse cardiovascular events (MACE), and serious infection relative to tumor necrosis factor inhibitors (TNFi) in patien

Externí odkaz: https://doaj.org/article/0ffed6005506402cb9e808540e503b79

Does persistence to methotrexate treatment in early rheumatoid arthritis have a familial component?

Autor: Anton Öberg Sysojev, Thomas Frisell, Bénédicte Delcoigne, Saedis Saevarsdottir, Johan Askling, Helga Westerlind

Publikováno v: Arthritis Research & Therapy, Vol 24, Iss 1, Pp 1-9 (2022)

Abstract Objectives To assess whether persistence to treatment with methotrexate (MTX) in early rheumatoid arthritis (RA) is shared among first-degree relatives with RA and to estimate any underlying heritability. Methods First-degree relative pairs

Externí odkaz: https://doaj.org/article/7732adb597394987b52fb1bef19b3551