A curated list of scholarly publications relevant to research, policy and health care from the Nordic human genetics and precision medicine community.
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Loss-of-Function Variants in the Tumor Suppressor Gene PTPN14 confer increased Cancer Risk.
Olafsdottir T, Stacey SN, Sveinbjornsson G, Thorleifsson G, Norland K, Sigurgeirsson B, Thorisdottir K, Kristjansson AK, Tryggvadottir L, Sarin KY, Benediktsson R, Jonasson JG, Sigurdsson A, Jonasdottir A, Kristmundsdottir S, Jonsson H, Gylfason A, Oddsson A, Fridriksdottir R, Gudjonsson SA, Zink F, Lund SH, Rognvaldsson S, Melsted P, Steinthorsdottir V, Gudmundsson J, Mikaelsdottir E, Olason PI, Stefansdottir L, Eggertsson HP, Halldorsson BV, Thorsteinsdottir U, Agustsson TT, Olafsson K, Olafsson JH, Sulem P, Rafnar T, Gudbjartsson DF, Stefansson K.
Cancer Res. 2021 Feb 18:canres.3065.2020.
Researchers looked for ultra-rare high-impact mutations in cancer. Using large-scale next-generation sequence data from Icelanders and the UK Biobank, researchers identified loss-of-function variants in the PTPN14 gene in one-quarter of people younger than 70 diagnosed with basal cell carcinoma, the most common cancer in Caucasians. The variants also correlated it with high risk of cervical cancer at a low age.
Weekly List (Most Recent First)
A meta-analysis uncovers the first sequence variant conferring risk of Bell's palsy.
Skuladottir AT, Bjornsdottir G, Thorleifsson G, Walters GB, Nawaz MS, Moore KHS, Olason PI, Thorgeirsson TE, Sigurpalsdottir B, Sveinbjornsson G, Eggertsson HP, Magnusson SH, Oddsson A, Bjornsdottir A, Vikingsson A, Sveinsson OA, Hrafnsdottir MG, Sigurdardottir GR, Halldorsson BV, Hansen TF, Paarup H, Erikstrup C, Nielsen K, Klokker M, Bruun MT, Sorensen E, Banasik K, Burgdorf KS, Pedersen OB, Ullum H, Jonsdottir I, Stefansson H, Stefansson K.
Sci Rep. 2021 Feb 18;11(1):4188.
Inflammation status modulates the effect of host genetic variation on intestinal gene expression in inflammatory bowel disease.
Hu S, Uniken Venema WT, Westra HJ, Vich Vila A, Barbieri R, Voskuil MD, Blokzijl T, Jansen BH, Li Y, Daly MJ, Xavier RJ, Dijkstra G, Festen EA, Weersma RK.
Nat Commun. 2021 Feb 18;12(1):1122.
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL; GEMO Study Collaborators; EMBRACE Collaborators, Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hulick PJ, Hunter DJ, Imyanitov EN; KConFab Investigators; HEBON Investigators; ABCTB Investigators, Jager A, Jakubowska A, James PA, Jensen UB, John EM, Jones ME, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khusnutdinova E, Kiiski JI, Ko YD, Kosma VM, Kraft P, Kurian AW, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud JT, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mebirouk N, Meindl A, Miller A, Milne RL, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Nielsen FC, O'Brien KM, Olopade OI, Olson JE, Olsson H, Osorio A, Ottini L, Park-Simon TW, Parsons MT, Pedersen IS, Peshkin B, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Polley EC, Poppe B, Presneau N, Pujana MA, Punie K, Radice P, Rantala J, Rashid MU, Rennert G, Rennert HS, Robson M, Romero A, Rossing M, Saloustros E, Sandler DP, Santella R, Scheuner MT, Schmidt MK, Schmidt G, Scott C, Sharma P, Soucy P, Southey MC, Spinelli JJ, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Teulé A, Thull DL, Tischkowitz M, Toland AE, Torres D, Trainer AH, Truong T, Tung N, Vachon CM, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wolk A, Yadav S, Yang XR, Yannoukakos D, Zheng W, Ziogas A, Zorn KK, Park SK, Thomassen M, Offit K, Schmutzler RK, Couch FJ, Simard J, Chenevix-Trench G, Easton DF, Andrieu N, Antoniou AC.
Nat Commun. 2021 Feb 17;12(1):1078.
First judgement on clinical ethics committees?
Hansen TWR, Førde R.
Arch Dis Child. 2021 Feb 17:archdischild-2021-321735.
Fasting plasma GLP-1 associates with overweight/obesity and cardiometabolic risk factors in children and adolescents.
Stinson SE, Jonsson AE, Lund MAV, Frithioff-Bøjsøe C, Holm LA, Pedersen O, Ängquist L, Sørensen TIA, Holst JJ, Christiansen M, Holm JC, Hartmann B, Hansen T.
J Clin Endocrinol Metab. 2021 Feb 17:dgab098.
Cortical thickness across the lifespan: Data from 17,075 healthy individuals aged 3-90 years.
Frangou S, Modabbernia A, Williams SCR, Papachristou E, Doucet GE, Agartz I, Aghajani M, Akudjedu TN, Albajes-Eizagirre A, Alnaes D, Alpert KI, Andersson M, Andreasen NC, Andreassen OA, Asherson P, Banaschewski T, Bargallo N, Baumeister S, Baur-Streubel R, Bertolino A, Bonvino A, Boomsma DI, Borgwardt S, Bourque J, Brandeis D, Breier A, Brodaty H, Brouwer RM, Buitelaar JK, Busatto GF, Buckner RL, Calhoun V, Canales-Rodríguez EJ, Cannon DM, Caseras X, Castellanos FX, Cervenka S, Chaim-Avancini TM, Ching CRK, Chubar V, Clark VP, Conrod P, Conzelmann A, Crespo-Facorro B, Crivello F, Crone EA, Dale AM, Davey C, de Geus EJC, de Haan L, de Zubicaray GI, den Braber A, Dickie EW, Di Giorgio A, Doan NT, Dørum ES, Ehrlich S, Erk S, Espeseth T, Fatouros-Bergman H, Fisher SE, Fouche JP, Franke B, Frodl T, Fuentes-Claramonte P, Glahn DC, Gotlib IH, Grabe HJ, Grimm O, Groenewold NA, Grotegerd D, Gruber O, Gruner P, Gur RE, Gur RC, Harrison BJ, Hartman CA, Hatton SN, Heinz A, Heslenfeld DJ, Hibar DP, Hickie IB, Ho BC, Hoekstra PJ, Hohmann S, Holmes AJ, Hoogman M, Hosten N, Howells FM, Hulshoff Pol HE, Huyser C, Jahanshad N, James A, Jernigan TL, Jiang J, Jönsson EG, Joska JA, Kahn R, Kalnin A, Kanai R, Klein M, Klyushnik TP, Koenders L, Koops S, Krämer B, Kuntsi J, Lagopoulos J, Lázaro L, Lebedeva I, Lee WH, Lesch KP, Lochner C, Machielsen MWJ, Maingault S, Martin NG, Martínez-Zalacaín I, Mataix-Cols D, Mazoyer B, McDonald C, McDonald BC, McIntosh AM, McMahon KL, McPhilemy G, Menchón JM, Medland SE, Meyer-Lindenberg A, Naaijen J, Najt P, Nakao T, Nordvik JE, Nyberg L, Oosterlaan J, de la Foz VO, Paloyelis Y, Pauli P, Pergola G, Pomarol-Clotet E, Portella MJ, Potkin SG, Radua J, Reif A, Rinker DA, Roffman JL, Rosa PGP, Sacchet MD, Sachdev PS, Salvador R, Sánchez-Juan P, Sarró S, Satterthwaite TD, Saykin AJ, Serpa MH, Schmaal L, Schnell K, Schumann G, Sim K, Smoller JW, Sommer I, Soriano-Mas C, Stein DJ, Strike LT, Swagerman SC, Tamnes CK, Temmingh HS, Thomopoulos SI, Tomyshev AS, Tordesillas-Gutiérrez D, Trollor JN, Turner JA, Uhlmann A, van den Heuvel OA, van den Meer D, van der Wee NJA, van Haren NEM, van 't Ent D, van Erp TGM, Veer IM, Veltman DJ, Voineskos A, Völzke H, Walter H, Walton E, Wang L, Wang Y, Wassink TH, Weber B, Wen W, West JD, Westlye LT, Whalley H, Wierenga LM, Wittfeld K, Wolf DH, Worker A, Wright MJ, Yang K, Yoncheva Y, Zanetti MV, Ziegler GC; Karolinska Schizophrenia Project (KaSP), Thompson PM, Dima D.
Hum Brain Mapp. 2021 Feb 17.
Exome Sequencing in Patient-Parent Trios Suggests New Candidate Genes for Early-onset Primary Sclerosing Cholangitis.
Haisma SM, Weersma RK, Joosse ME, de Koning BA, de Meij T, Koot BG, Wolters V, Norbruis O, Daly MJ, Stevens C, Xavier RJ, Koskela J, Rivas MA, Visschedijk MC, Verkade HJ, Barbieri R, Jansen DB, Festen EA, van Rheenen PF, van Diemen CC.
Liver Int. 2021 Feb 16.
Author Correction: Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder.
Demontis D, Walters RK, Rajagopal VM, Waldman ID, Grove J, Als TD, Dalsgaard S, Ribasés M, Bybjerg-Grauholm J, Bækvad-Hansen M, Werge T, Nordentoft M, Mors O, Mortensen PB; ADHD Working Group of the Psychiatric Genomics Consortium (PGC), Cormand B, Hougaard DM, Neale BM, Franke B, Faraone SV, Børglum AD.
Nat Commun. 2021 Feb 15;12(1):1166.
Twenty-five years of triptans - a nationwide population study.
Davidsson OB, Olofsson IA, Kogelman LJ, Andersen MA, Rostgaard K, Hjalgrim H, Olesen J, Hansen TF.
Cephalalgia. 2021 Feb 14:333102421991809.
Signal and noise in circRNA translation.
Hansen TB.
Methods. 2021 Feb 12:S1046-2023(21)00044-X.
The role of a traditional and western diet on glucose homeostasis in Greenlandic Inuit carriers and non-carriers of type 2 diabetes variant in the TBC1D4 gene: A protocol for a randomized clinical trial.
Møller G, Lind MV, Hauptmann AL, Senftleber N, Hansen CB, Hansen T, Jørgensen ME, Lauritzen L.
Contemp Clin Trials Commun. 2021 Jan 27;21:100734.