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Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles.
Hautakangas H, Winsvold BS, Ruotsalainen SE, Bjornsdottir G, Harder AVE, Kogelman LJA, Thomas LF, Noordam R, Benner C, Gormley P, Artto V, Banasik K, Bjornsdottir A, Boomsma DI, Brumpton BM, Burgdorf KS, Buring JE, Chalmer MA, de Boer I, Dichgans M, Erikstrup C, Färkkilä M, Garbrielsen ME, Ghanbari M, Hagen K, Häppölä P, Hottenga JJ, Hrafnsdottir MG, Hveem K, Johnsen MB, Kähönen M, Kristoffersen ES, Kurth T, Lehtimäki T, Lighart L, Magnusson SH, Malik R, Pedersen OB, Pelzer N, Penninx BWJH, Ran C, Ridker PM, Rosendaal FR, Sigurdardottir GR, Skogholt AH, Sveinsson OA, Thorgeirsson TE, Ullum H, Vijfhuizen LS, Widén E, van Dijk KW; International Headache Genetics Consortium; HUNT All-in Headache; Danish Blood Donor Study Genomic Cohort; Aromaa A, Belin AC, Freilinger T, Ikram MA, Järvelin MR, Raitakari OT, Terwindt GM, Kallela M, Wessman M, Olesen J, Chasman DI, Nyholt DR, Stefánsson H, Stefansson K, van den Maagdenberg AMJM, Hansen TF, Ripatti S, Zwart JA, Palotie A, Pirinen M. Hautakangas H, et al. Nat Genet. 2022 Feb;54(2):152-160. doi: 10.1038/s41588-021-00990-0. Epub 2022 Feb 3. Nat Genet. 2022. PMID: 35115687 Free PMC article.
Genetic effects on the timing of parturition and links to fetal birth weight.
Solé-Navais P, Flatley C, Steinthorsdottir V, Vaudel M, Juodakis J, Chen J, Laisk T, LaBella AL, Westergaard D, Bacelis J, Brumpton B, Skotte L, Borges MC, Helgeland Ø, Mahajan A, Wielscher M, Lin F, Briggs C, Wang CA, Moen GH, Beaumont RN, Bradfield JP, Abraham A, Thorleifsson G, Gabrielsen ME, Ostrowski SR, Modzelewska D, Nohr EA, Hypponen E, Srivastava A, Talbot O, Allard C, Williams SM, Menon R, Shields BM, Sveinbjornsson G, Xu H, Melbye M, Lowe W Jr, Bouchard L, Oken E, Pedersen OB, Gudbjartsson DF, Erikstrup C, Sørensen E; Early Growth Genetics Consortium; Estonian Biobank Research Team; Danish Blood Donor Study Genomic Consortium; Lie RT, Teramo K, Hallman M, Juliusdottir T, Hakonarson H, Ullum H, Hattersley AT, Sletner L, Merialdi M, Rifas-Shiman SL, Steingrimsdottir T, Scholtens D, Power C, West J, Nyegaard M, Capra JA, Skogholt AH, Magnus P, Andreassen OA, Thorsteinsdottir U, Grant SFA, Qvigstad E, Pennell CE, Hivert MF, Hayes GM, Jarvelin MR, McCarthy MI, Lawlor DA, Nielsen HS, Mägi R, Rokas A, Hveem K, Stefansson K, Feenstra B, Njolstad P, Muglia LJ, Freathy RM, Johansson S, Zhang G, Jacobsson B. Solé-Navais P, et al. Nat Genet. 2023 Apr;55(4):559-567. doi: 10.1038/s41588-023-01343-9. Epub 2023 Apr 3. Nat Genet. 2023. PMID: 37012456 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.
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
Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
Kentistou KA, Kaisinger LR, Stankovic S, Vaudel M, de Oliveira EM, Messina A, Walters RG, Liu X, Busch AS, Helgason H, Thompson DJ, Santon F, Petricek KM, Zouaghi Y, Huang-Doran I, Gudbjartsson DF, Bratland E, Lin K, Gardner EJ, Zhao Y, Jia R, Terao C, Riggan M, Bolla MK, Yazdanpanah M, Yazdanpanah N, Bradfield JP, Broer L, Campbell A, Chasman DI, Cousminer DL, Franceschini N, Franke LH, Girotto G, He C, Järvelin MR, Joshi PK, Kamatani Y, Karlsson R, Luan J, Lunetta KL, Mägi R, Mangino M, Medland SE, Meisinger C, Noordam R, Nutile T, Concas MP, Polašek O, Porcu E, Ring SM, Sala C, Smith AV, Tanaka T, van der Most PJ, Vitart V, Wang CA, Willemsen G, Zygmunt M, Ahearn TU, Andrulis IL, Anton-Culver H, Antoniou AC, Auer PL, Barnes CL, Beckmann MW, Berrington A, Bogdanova NV, Bojesen SE, Brenner H, Buring JE, Canzian F, Chang-Claude J, Couch FJ, Cox A, Crisponi L, Czene K, Daly MB, Demerath EW, Dennis J, Devilee P, Vivo I, Dörk T, Dunning AM, Dwek M, Eriksson JG, Fasching PA, Fernandez-Rhodes L, Ferreli L, Fletcher O, Gago-Dominguez M, García-Closas M, García-Sáenz JA, González-Neira A, Grallert H, Guénel P, Haiman CA, Hall P, Hamann U, Hakonarson H, Hart RJ, Hickey M, Hooning MJ, Hopp… See abstract for full author list ➔ Kentistou KA, et al. medRxiv [Preprint]. 2023 Jun 20:2023.06.14.23291322. doi: 10.1101/2023.06.14.23291322. medRxiv. 2023. PMID: 37503126 Free PMC article. Preprint.
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies.
Manry J, Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, 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, Mégarbane 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 CM, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Anglicheau D, Planas AM, Haerynck F, Duvlis S, 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, Shcherbina A, Lau YL, Le… See abstract for full author list ➔ Manry J, et al. Proc Natl Acad Sci U S A. 2022 May 24;119(21):e2200413119. doi: 10.1073/pnas.2200413119. Epub 2022 May 16. Proc Natl Acad Sci U S A. 2022. PMID: 35576468 Free PMC article.
Author Correction: Genetic effects on the timing of parturition and links to fetal birth weight.
Solé-Navais P, Flatley C, Steinthorsdottir V, Vaudel M, Juodakis J, Chen J, Laisk T, LaBella AL, Westergaard D, Bacelis J, Brumpton B, Skotte L, Borges MC, Helgeland Ø, Mahajan A, Wielscher M, Lin F, Briggs C, Wang CA, Moen GH, Beaumont RN, Bradfield JP, Abraham A, Thorleifsson G, Gabrielsen ME, Ostrowski SR, Modzelewska D, Nohr EA, Hypponen E, Srivastava A, Talbot O, Allard C, Williams SM, Menon R, Shields BM, Sveinbjornsson G, Xu H, Melbye M, Lowe W Jr, Bouchard L, Oken E, Pedersen OB, Gudbjartsson DF, Erikstrup C, Sørensen E; Early Growth Genetics Consortium; Estonian Biobank Research Team; Danish Blood Donor Study Genomic Consortium; Lie RT, Teramo K, Hallman M, Juliusdottir T, Hakonarson H, Ullum H, Hattersley AT, Sletner L, Merialdi M, Rifas-Shiman SL, Steingrimsdottir T, Scholtens D, Power C, West J, Nyegaard M, Capra JA, Skogholt AH, Magnus P, Andreassen OA, Thorsteinsdottir U, Grant SFA, Qvigstad E, Pennell CE, Hivert MF, Hayes GM, Jarvelin MR, McCarthy MI, Lawlor DA, Nielsen HS, Mägi R, Rokas A, Hveem K, Stefansson K, Feenstra B, Njolstad P, Muglia LJ, Freathy RM, Johansson S, Zhang G, Jacobsson B. Solé-Navais P, et al. Nat Genet. 2023 Jul;55(7):1250. doi: 10.1038/s41588-023-01412-z. Nat Genet. 2023. PMID: 37165137 Free PMC article. No abstract available.
Pregnancy-Associated Bleeding and Genetics: Five Sequence Variants in the Myometrium and Progesterone Signaling Pathway are associated with postpartum hemorrhage.
Westergaard D, Steinthorsdottir V, Stefansdottir L, Rohde PD, Wu X, Geller F, Tyrmi J, Havulinna AS, Navais PS, Flatley C, Ostrowski SR, Pedersen OB, Erikstrup C, Sørensen E, Mikkelsen C, Brun MT, Jensen BA, 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, Fenstra 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. medRxiv [Preprint]. 2023 Aug 15:2023.08.10.23293932. doi: 10.1101/2023.08.10.23293932. medRxiv. 2023. PMID: 37645979 Free PMC article. Preprint.