A curated list of scholarly publications relevant to research, policy and health care from the Nordic human genetics and precision medicine community and their collaborators.
What are we missing? Help us refine our search. Please contact us with suggestions and any other ideas you have for keeping the community up to date.
Featured
An integrated multi-omics analysis identifies prognostic molecular subtypes of non-muscle-invasive bladder cancer.
Lindskrog SV, Prip F, Lamy P, Taber A, Groeneveld CS, Birkenkamp-Demtröder K, Jensen JB, Strandgaard T, Nordentoft I, Christensen E, Sokac M, Birkbak NJ, Maretty L, Hermann GG, Petersen AC, Weyerer V, Grimm MO, Horstmann M, Sjödahl G, Höglund M, Steiniche T, Mogensen K, de Reyniès A, Nawroth R, Jordan B, Lin X, Dragicevic D, Ward DG, Goel A, Hurst CD, Raman JD, Warrick JI, Segersten U, Sikic D, van Kessel KEM, Maurer T, Meeks JJ, DeGraff DJ, Bryan RT, Knowles MA, Simic T, Hartmann A, Zwarthoff EC, Malmström PU, Malats N, Real FX, Dyrskjøt L.
Nat Commun. 2021 Apr 16;12(1):2301.
- A multi-omics analysis of tumors from 834 people with non-muscle-invasive gladder cancer (NMIBC) reveals a new molecular subtype with worse outcomes. First author Sia Viborg Lindskrog explained key take-home messages in a tweetorial. She invited other scientists to classify their own NMIBC samples using their tool at nmibc-class.dk.
Image credit: Elaine Alibrandi/adapted from Nature Communications
Biweekly List (Most Recent First)
Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure.
Wang H, Noordam R, Cade BE, Schwander K, Winkler TW, Lee J, Sung YJ, Bentley AR, Manning AK, Aschard H, Kilpeläinen TO, Ilkov M, Brown MR, Horimoto AR, Richard M, Bartz TM, Vojinovic D, Lim E, Nierenberg JL, Liu Y, Chitrala K, Rankinen T, Musani SK, Franceschini N, Rauramaa R, Alver M, Zee PC, Harris SE, van der Most PJ, Nolte IM, Munroe PB, Palmer ND, Kühnel B, Weiss S, Wen W, Hall KA, Lyytikäinen LP, O'Connell J, Eiriksdottir G, Launer LJ, de Vries PS, Arking DE, Chen H, Boerwinkle E, Krieger JE, Schreiner PJ, Sidney S, Shikany JM, Rice K, Chen YI, Gharib SA, Bis JC, Luik AI, Ikram MA, Uitterlinden AG, Amin N, Xu H, Levy D, He J, Lohman KK, Zonderman AB, Rice TK, Sims M, Wilson G, Sofer T, Rich SS, Palmas W, Yao J, Guo X, Rotter JI, Biermasz NR, Mook-Kanamori DO, Martin LW, Barac A, Wallace RB, Gottlieb DJ, Komulainen P, Heikkinen S, Mägi R, Milani L, Metspalu A, Starr JM, Milaneschi Y, Waken RJ, Gao C, Waldenberger M, Peters A, Strauch K, Meitinger T, Roenneberg T, Völker U, Dörr M, Shu XO, Mukherjee S, Hillman DR, Kähönen M, Wagenknecht LE, Gieger C, Grabe HJ, Zheng W, Palmer LJ, Lehtimäki T, Gudnason V, Morrison AC, Pereira AC, Fornage M, Psaty BM, van Duijn CM, Liu CT, Kelly TN, Evans MK, Bouchard C, Fox ER, Kooperberg C, Zhu X, Lakka TA, Esko T, North KE, Deary IJ, Snieder H, Penninx BWJH, Gauderman WJ, Rao DC, Redline S, van Heemst D.
Mol Psychiatry. 2021 Apr 15.
Changes in the gene expression profile during spontaneous migraine attacks.
Kogelman LJA, Falkenberg K, Buil A, Erola P, Courraud J, Laursen SS, Michoel T, Olesen J, Hansen TF.
Sci Rep. 2021 Apr 15;11(1):8294.
Moving somatic gene editing to the clinic: routes to market access and reimbursement in Europe.
Rigter T, Klein D, Weinreich SS, Cornel MC.
Eur J Hum Genet. 2021 Apr 14.
Pharmacogenetics of angiotensin-converting enzyme inhibitor-induced angioedema.
Pall AH, Rasmussen ER, Wadelius M.
Pharmacogenomics. 2021 Apr 14.
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices.
Natarajan P, Pampana A, Graham SE, Ruotsalainen SE, Perry JA, de Vries PS, Broome JG, Pirruccello JP, Honigberg MC, Aragam K, Wolford B, Brody JA, Antonacci-Fulton L, Arden M, Aslibekyan S, Assimes TL, Ballantyne CM, Bielak LF, Bis JC, Cade BE, Do R, Doddapaneni H, Emery LS, Hung YJ, Irvin MR, Khan AT, Lange L, Lee J, Lemaitre RN, Martin LW, Metcalf G, Montasser ME, Moon JY, Muzny D, O'Connell JR, Palmer ND, Peralta JM, Peyser PA, Stilp AM, Tsai M, Wang FF, Weeks DE, Yanek LR, Wilson JG, Abecasis G, Arnett DK, Becker LC, Blangero J, Boerwinkle E, Bowden DW, Chang YC, Chen YI, Choi WJ, Correa A, Curran JE, Daly MJ, Dutcher SK, Ellinor PT, Fornage M, Freedman BI, Gabriel S, Germer S, Gibbs RA, He J, Hveem K, Jarvik GP, Kaplan RC, Kardia SLR, Kenny E, Kim RW, Kooperberg C, Laurie CC, Lee S, Lloyd-Jones DM, Loos RJF, Lubitz SA, Mathias RA, Martinez KAV, McGarvey ST, Mitchell BD, Nickerson DA, North KE, Palotie A, Park CJ, Psaty BM, Rao DC, Redline S, Reiner AP, Seo D, Seo JS, Smith AV, Tracy RP, Vasan RS, Kathiresan S, Cupples LA, Rotter JI, Morrison AC, Rich SS, Ripatti S, Willer C; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; FinnGen, Peloso GM.
Nat Commun. 2021 Apr 12;12(1):2182.
HLA-DQB1 6672G>C (rs113332494) is associated with clozapine-induced neutropenia and agranulocytosis in individuals of European ancestry.
Konte B, Walters JTR, Rujescu D, Legge SE, Pardiñas AF, Cohen D, Pirmohamed M, Tiihonen J, Hartmann AM, Bogers JP, van der Weide J, van der Weide K, Putkonen A, Repo-Tiihonen E, Hallikainen T, Silva E, Ingimarsson O, Sigurdsson E, Kennedy JL, Sullivan PF, Rietschel M, Breen G, Stefansson H, Stefansson K, Collier DA, O'Donovan MC, Giegling I.
Transl Psychiatry. 2021 Apr 12;11(1):214.
Early ctDNA response to chemotherapy. A potential surrogate marker for overall survival.
Jakobsen A, Andersen RF, Hansen TF, Jensen LH, Faaborg L, Steffensen KD, Thomsen CB, Wen SWC.
Eur J Cancer. 2021 Apr 12;149:128-133.
Low-level exposure to polycyclic aromatic hydrocarbons is associated with reduced lung function among Swedish young adults.
Alhamdow A, Zettergren A, Kull I, Hallberg J, Andersson N, Ekström S, Berglund M, Wheelock CE, Essig YJ, Krais AM, Georgelis A, Lindh CH, Melén E, Bergström A.
Environ Res. 2021 Apr 12:111169.
DNA methylation in cord blood in association with prenatal depressive symptoms.
Kallak TK, Bränn E, Fransson E, Johansson Å, Lager S, Comasco E, Lyle R, Skalkidou A.
Clin Epigenetics. 2021 Apr 12;13(1):78.
Long-Term Exposure to Fine Particle Elemental Components and Natural and Cause-Specific Mortality-a Pooled Analysis of Eight European Cohorts within the ELAPSE Project.
Chen J, Rodopoulou S, de Hoogh K, Strak M, Andersen ZJ, Atkinson R, Bauwelinck M, Bellander T, Brandt J, Cesaroni G, Concin H, Fecht D, Forastiere F, Gulliver J, Hertel O, Hoffmann B, Hvidtfeldt UA, Janssen NAH, Jöckel KH, Jørgensen J, Katsouyanni K, Ketzel M, Klompmaker JO, Lager A, Leander K, Liu S, Ljungman P, MacDonald CJ, Magnusson PKE, Mehta A, Nagel G, Oftedal B, Pershagen G, Peters A, Raaschou-Nielsen O, Renzi M, Rizzuto D, Samoli E, van der Schouw YT, Schramm S, Schwarze P, Sigsgaard T, Sørensen M, Stafoggia M, Tjønneland A, Vienneau D, Weinmayr G, Wolf K, Brunekreef B, Hoek G.
Environ Health Perspect. 2021 Apr;129(4):47009.
Immune cells lacking Y chromosome show dysregulation of autosomal gene expression.
Dumanski JP, Halvardson J, Davies H, Rychlicka-Buniowska E, Mattisson J, Moghadam BT, Nagy N, Węglarczyk K, Bukowska-Strakova K, Danielsson M, Olszewski P, Piotrowski A, Oerton E, Ambicka A, Przewoźnik M, Bełch Ł, Grodzicki T, Chłosta PL, Imreh S, Giedraitis V, Kilander L, Nordlund J, Ameur A, Gyllensten U, Johansson Å, Józkowicz A, Siedlar M, Klich-Rączka A, Jaszczyński J, Enroth S, Baran J, Ingelsson M, Perry JRB, Ryś J, Forsberg LA.
Cell Mol Life Sci. 2021 Apr 10.
A gut-intrinsic melanocortin signalling complex augments L cell secretion in humans.
Sun EW, Iepsen EW, Pezos N, Lumsden AL, Martin AM, Schober G, Isaacs NJ, Rayner CK, Nguyen NQ, de Fontgalland D, Rabbitt P, Hollington P, Wattchow DA, Hansen T, Holm J, Liou AP, Jackson VM, Torekov SS, Young RL, Keating DJ.
Gastroenterology. 2021 Apr 10:S0016-5085(21)00635-1.
Actionable druggable genome-wide Mendelian randomization identifies repurposing opportunities for COVID-19.
Gaziano L, Giambartolomei C, Pereira AC, Gaulton A, Posner DC, Swanson SA, Ho YL, Iyengar SK, Kosik NM, Vujkovic M, Gagnon DR, Bento AP, Barrio-Hernandez I, Rönnblom L, Hagberg N, Lundtoft C, Langenberg C, Pietzner M, Valentine D, Gustincich S, Tartaglia GG, Allara E, Surendran P, Burgess S, Zhao JH, Peters JE, Prins BP, Angelantonio ED, Devineni P, Shi Y, Lynch KE, DuVall SL, Garcon H, Thomann LO, Zhou JJ, Gorman BR, Huffman JE, O'Donnell CJ, Tsao PS, Beckham JC, Pyarajan S, Muralidhar S, Huang GD, Ramoni R, Beltrao P, Danesh J, Hung AM, Chang KM, Sun YV, Joseph J, Leach AR, Edwards TL, Cho K, Gaziano JM, Butterworth AS, Casas JP; VA Million Veteran Program COVID-19 Science Initiative.
Nat Med. 2021 Apr;27(4):668-676. Epub 2021 Apr 9.
Genetically Proxied Inhibition of Coagulation Factors and Risk of Cardiovascular Disease: A Mendelian Randomization Study.
Yuan S, Burgess S, Laffan M, Mason AM, Dichgans M, Gill D, Larsson SC.
J Am Heart Assoc. 2021 Apr 9:e019644.
Age at menarche, age at natural menopause, and risk of rheumatoid arthritis - a Mendelian randomization study.
Zhu J, Niu Z, Alfredsson L, Klareskog L, Padyukov L, Jiang X.
Arthritis Res Ther. 2021 Apr 9;23(1):108.
Sarcopenia Definitions as Predictors of Fracture Risk Independent of FRAX® , Falls, and BMD in the Osteoporotic Fractures in Men (MrOS) Study: A Meta-Analysis.
Harvey NC, Orwoll E, Kwok T, Karlsson MK, Rosengren BE, Ribom E, Cauley JA, Cawthon PM, Ensrud K, Liu E, Cruz-Jentoft AJ, Fielding RA, Cooper C, Kanis JA, Lorentzon M, Ohlsson C, Mellström D, Johansson H, McCloskey E.
J Bone Miner Res. 2021 Apr 8.
Sex-differences in circulating biomarkers during acute myocardial infarction: An analysis from the SWEDEHEART registry.
Eggers KM, Lindhagen L, Baron T, Erlinge D, Hjort M, Jernberg T, Johnston N, Marko-Varga G, Rezeli M, Spaak J, Lindahl B.
PLoS One. 2021 Apr 8;16(4):e0249830.
Per-Particle Triglyceride-Rich Lipoproteins Imply Higher Myocardial Infarction Risk Than Low-Density Lipoproteins: Copenhagen General Population Study.
Johansen MØ, Vedel-Krogh S, Nielsen SF, Afzal S, Smith GD, Nordestgaard BG.
Arterioscler Thromb Vasc Biol. 2021 Apr 8:ATVBAHA120315639.
Initial Upper Palaeolithic humans in Europe had recent Neanderthal ancestry.
Hajdinjak M, Mafessoni F, Skov L, Vernot B, Hübner A, Fu Q, Essel E, Nagel S, Nickel B, Richter J, Moldovan OT, Constantin S, Endarova E, Zahariev N, Spasov R, Welker F, Smith GM, Sinet-Mathiot V, Paskulin L, Fewlass H, Talamo S, Rezek Z, Sirakova S, Sirakov N, McPherron SP, Tsanova T, Hublin JJ, Peter BM, Meyer M, Skoglund P, Kelso J, Pääbo S.
Nature. 2021 Apr;592(7853):253-257. Epub 2021 Apr 7.
Mendelian randomisation identifies alternative splicing of the FAS death receptor as a mediator of severe COVID-19.
Klaric L, Gisby JS, Papadaki A, Muckian MD, Macdonald-Dunlop E, Zhao JH, Tokolyi A, Persyn E, Pairo-Castineira E, Morris AP, Kalnapenkis A, Richmond A, Landini A, Hedman ÅK, Prins B, Zanetti D, Wheeler E, Kooperberg C, Yao C, Petrie JR, Fu J, Folkersen L, Walker M, Magnusson M, Eriksson N, Mattsson-Carlgren N, Timmers PRHJ, Hwang SJ, Enroth S, Gustafsson S, Vosa U, Chen Y, Siegbahn A, Reiner A, Johansson Å, Thorand B, Gigante B, Hayward C, Herder C, Gieger C, Langenberg C, Levy D, Zhernakova DV, Smith JG, Campbell H, Sundstrom J, Danesh J, Michaëlsson K, Suhre K, Lind L, Wallentin L, Padyukov L, Landén M, Wareham NJ, Göteson A, Hansson O, Eriksson P, Strawbridge RJ, Assimes TL, Esko T, Gyllensten U, Baillie JK, Paul DS, Joshi PK, Butterworth AS, Mälarstig A, Pirastu N, Wilson JF, Peters JE.
medRxiv. 2021 Apr 7:2021.04.01.21254789.
Genetic variants associated with cardiometabolic abnormalities during treatment with selective serotonin reuptake inhibitors: a genome-wide association study.
Fjukstad KK, Athanasiu L, Bahrami S, O'Connell KS, van der Meer D, Bettella F, Dieset I, Steen NE, Djurovic S, Spigset O, Andreassen OA.
Pharmacogenomics J. 2021 Apr 6.
Variable number tandem repeats mediate the expression of proximal genes.
Bakhtiari M, Park J, Ding YC, Shleizer-Burko S, Neuhausen SL, Halldórsson BV, Stefánsson K, Gymrek M, Bafna V.
Nat Commun. 2021 Apr 6;12(1):2075.
Birth characteristics and risk of febrile seizures.
Christensen KJ, Dreier JW, Skotte L, Feenstra B, Grove J, Børglum A, Mitrovic M, Cotsapas C, Christensen J.
Acta Neurol Scand. 2021 Apr 6.
Plasma Cortisol and Risk of Atrial Fibrillation: A Mendelian Randomization Study.
Larsson SC, Lee WH, Burgess S, Allara E.
J Clin Endocrinol Metab. 2021 Apr 5:dgab219.
Blood pressure phenotypes based on ambulatory monitoring in a general middle-aged population.
Lin YT, Lampa E, Fall T, Engström G, Sundström J.
Blood Press. 2021 Apr 2:1-13.
Clinical Predictors of Non-Response to Lithium Treatment in The Pharmacogenomics of Bipolar Disorder (PGBD) Study.
Lin Y, Maihofer AX, Stapp E, Ritchey M, Alliey-Rodriguez N, Anand A, Balaraman Y, Berrettini WH, Bertram H, Bhattacharjee A, Calkin CV, Conroy C, Coryell W, D'Arcangelo N, DeModena A, Biernacka JM, Fisher C, Frazier N, Frye M, Gao K, Garnham J, Gershon E, Glazer K, Goes FS, Goto T, Karberg E, Harrington G, Jakobsen P, Kamali M, Kelly M, Leckband SG, Lohoff FW, Stautland A, McCarthy MJ, McInnis MG, Mondimore F, Morken G, Nurnberger JI, Oedegaard KJ, Syrstad VEG, Ryan K, Schinagle M, Schoeyen H, Andreassen OA, Shaw M, Shilling PD, Slaney C, Tarwater B, Calabrese JR, Alda M, Nievergelt CM, Zandi PP, Kelsoe JR.
Bipolar Disord. 2021 Apr 2.
Phenotypically independent profiles relevant to mental health are genetically correlated.
Roelfs D, Alnæs D, Frei O, van der Meer D, Smeland OB, Andreassen OA, Westlye LT, Kaufmann T.
Transl Psychiatry. 2021 Apr 1;11(1):202.
Association of structural variation with cardiometabolic traits in Finns.
Chen L, Abel HJ, Das I, Larson DE, Ganel L, Kanchi KL, Regier AA, Young EP, Kang CJ, Scott AJ, Chiang C, Wang X, Lu S, Christ R, Service SK, Chiang CWK, Havulinna AS, Kuusisto J, Boehnke M, Laakso M, Palotie A, Ripatti S, Freimer NB, Locke AE, Stitziel NO, Hall IM.
Am J Hum Genet. 2021 Apr 1;108(4):583-596.
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE.
Am J Hum Genet. 2021 Apr 1;108(4):722-738.
Deletions on Chromosome Y and Downregulation of the SRY Gene in Tumor Tissue Are Associated with Worse Survival of Glioblastoma Patients.
Łysiak M, Smits A, Roodakker KR, Sandberg E, Dimberg A, Mudaisi M, Bratthäll C, Strandeus M, Milos P, Hallbeck M, Söderkvist P, Malmström A.
Cancers (Basel). 2021 Mar 31;13(7):1619.
Rheumatoid arthritis autoantibodies and their association with age and sex.
Pertsinidou E, Manivel VA, Westerlind H, Klareskog L, Alfredsson L, Mathsson-Alm L, Hansson M, Saevarsdottir S, Askling J, Rönnelid J.
Clin Exp Rheumatol. 2021 Mar 30.
Lifestyle factors and venous thromboembolism in two cohort studies.
Yuan S, Bruzelius M, Håkansson N, Åkesson A, Larsson SC.
Thromb Res. 2021 Mar 29;202:119-124.
Clinical genetics in transition-a comparison of genetic services in Estonia, Finland, and the Netherlands.
Vrijenhoek T, Tonisson N, Kääriäinen H, Leitsalu L, Rigter T.J Community Genet. 2021 Mar 11:1-14. (News release.)