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.
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Nordic Papers List (Most Recent First):
Development and validation of an artificial neural network algorithm to predict mortality and admission to hospital for heart failure after myocardial infarction: a nationwide population-based study.
Mohammad MA, Olesen KKW, Koul S, Gale CP, Rylance R, Jernberg T, Baron T, Spaak J, James S, Lindahl B, Maeng M, Erlinge D.
Lancet Digit Health. 2022 Jan;4(1):e37-e45.
A multigenerational study on phenotypic consequences of the most common causal variant of HNF1A-MODY.
Kettunen JLT, Rantala E, Dwivedi OP, Isomaa B, Sarelin L, Kokko P, Hakaste L, Miettinen PJ, Groop LC, Tuomi T.
Diabetologia. 2021 Dec 24.
Pupil size and pupillary light reflex in early infancy: heritability and link to genetic liability to schizophrenia.
Portugal AM, Taylor MJ, Viktorsson C, Nyström P, Li D, Tammimies K, Ronald A, Falck-Ytter T.
J Child Psychol Psychiatry. 2021 Dec 23.
A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen.
Landegren N, Ishii N, Aranda-Guillén M, Gunnarsson HI, Sardh F, Hallgren Å, Ståhle M, Hagforsen E, Bradley M, Edqvist PD, Pontén F, Mäkitie O, Eidsmo L, Norlén L, Achour A, Dahlbom I, Korponay-Szabó I, Agardh D, Alimohammadi M, Eriksson D, Hashimoto T, Kämpe O.
Proc Natl Acad Sci U S A. 2021 Dec 21;118(51):e2100687118.
Familial risk and heritability of intellectual disability: a population-based cohort study in Sweden.
Lichtenstein P, Tideman M, Sullivan PF, Serlachius E, Larsson H, Kuja-Halkola R, Butwicka A.
J Child Psychol Psychiatry. 2021 Dec 18.
Pharmacometabolomic profiles in type 2 diabetic subjects treated with liraglutide or glimepiride.
Jendle J, Hyötyläinen T, Orešič M, Nyström T.
Cardiovasc Diabetol. 2021 Dec 17;20(1):237.
Phenome-wide association study (PheWAS) of colorectal cancer risk SNP effects on health outcomes in UK Biobank.
Zhang X, Li X, He Y, Law PJ, Farrington SM, Campbell H, Tomlinson IPM, Houlston RS, Dunlop MG, Timofeeva M, Theodoratou E. Br J Cancer. 2021 Dec 15. (Replicated in Danish Disease Trajectory Browser)
Association of Etiological Factors for Hypomanic Symptoms, Bipolar Disorder, and Other Severe Mental Illnesses.
Hosang GM, Martin J, Karlsson R, Lundström S, Larsson H, Ronald A, Lichtenstein P, Taylor MJ.
JAMA Psychiatry. 2021 Dec 15.
Causal role of high body mass index in multiple chronic diseases: a systematic review and meta-analysis of Mendelian randomization studies.
Larsson SC, Burgess S.
BMC Med. 2021 Dec 15;19(1):320.
Genetic variants at the RTP4/MASP1 locus are associated with fatigue in Scandinavian patients with primary Sjögren's syndrome.
Norheim KB, Imgenberg-Kreuz J, Alexsson A, Johnsen SJA, Bårdsen K, Brun JG, Dehkordi RK, Theander E, Mandl T, Jonsson R, Ng WF, Lessard CJ, Rasmussen A, Sivilis K, Ronnblom L, Omdal R.
RMD Open. 2021 Dec;7(3):e001832.
Global Differences in Risk Factors, Etiology, and Outcome of Ischemic Stroke in Young Adults: A Worldwide Meta-analysis: The GOAL-Initiative.
Jacob MA, Ekker MS, Allach Y, Cai M, Aarnio K, Arauz A, Arnold M, Bae HJ, Bandeo L, Barboza MA, Bolognese M, Bonardo P, Brouns R, Chuluun B, Chuluunbatar E, Cordonnier C, Dagvajantsan B, Debette S, Don A, Enzinger C, Ekizoglu E, Fandler-Höfler S, Fazekas F, Fromm A, Gattringer T, Hora TF, Jern C, Jood K, Seo KY, Kittner S, Kleinig T, Klijn CJ, Kõrv J, Kumar V, Lee KJ, Lee TH, Maaijwee NA, Martinez-Majander N, Marto JP, Mehndiratta MM, Mifsud V, Montanaro V, Pacio G, Patel VB, Phillips MC, Piechowski-Jozwiak B, Pikula A, Ruiz-Sandoval J, von Sarnowski B, Swartz RH, Tan KS, Tanne D, Tatlisumak T, Thijs V, Viana-Baptista M, Vibo R, Wu TY, Yesilot N, Waje-Andreassen U, Pezzini A, Putaala J, Tuladhar AM, Leeuw FE.
Neurology. 2021 Dec 14:10.1212/WNL.0000000000013195.
Loss of sucrase-isomaltase function increases acetate levels and improves metabolic health in Greenlandic cohorts.
Andersen MK, Skotte L, Jørsboe E, Polito R, Stæger FF, Aldiss P, Hanghøj K, Waples RK, Santander CG, Grarup N, Dahl-Petersen IK, Diaz LJ, Overvad M, Senftleber NK, Søborg B, Larsen CVL, Lemoine C, Pedersen O, Feenstra B, Bjerregaard P, Melbye M, Jørgensen ME, Færgeman NJ, Koch A, Moritz T, Gillum MP, Moltke I, Hansen T, Albrechtsen A.
Gastroenterology. 2021 Dec 13:S0016-5085(21)04065-8.
Diagnosis of bipolar disorders and body mass index predict clustering based on similarities in cortical thickness - ENIGMA study in 2 436 individuals.
McWhinney SR, Abé C, Alda M, Benedetti F, Bøen E, Del Mar Bonnin C, Borgers T, Brosch K, Canales-Rodríguez EJ, Cannon DM, Dannlowski U, Diaz-Zuluaga AM, Dietze L, Elvsåshagen T, Eyler LT, Fullerton JM, Goikolea JM, Goltermann J, Grotegerd D, Haarman BCM, Hahn T, Howells FM, Ingvar M, Kircher TTJ, Krug A, Kuplicki RT, Landén M, Lemke H, Liberg B, Lopez-Jaramillo C, Malt UF, Martyn FM, Mazza E, McDonald C, McPhilemy G, Meier S, Meinert S, Meller T, Melloni EMT, Mitchell PB, Nabulsi L, Nenadic I, Opel N, Ophoff RA, Overs BJ, Pfarr JK, Pineda-Zapata JA, Pomarol-Clotet E, Raduà J, Repple J, Richter M, Ringwald KG, Roberts G, Ross A, Salvador R, Savitz J, Schmitt S, Schofield PR, Sim K, Stein DJ, Stein F, Temmingh HS, Thiel K, Thomopoulos SI, van Haren NEM, Van Gestel H, Vargas C, Vieta E, Vreeker A, Waltemate L, Yatham LN, Ching CRK, Andreassen O, Thompson PM, Hajek T; ENIGMA Bipolar Disorders Working Group.
Bipolar Disord. 2021 Dec 11.
The power of genetic diversity in genome-wide association studies of lipids.
Graham SE, Clarke SL, Wu KH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, Locke AE, Marouli E, Hwang MY, Han S, Narita A, Choudhury A, Bentley AR, Ekoru K, Verma A, Trivedi B, Martin HC, Hunt KA, Hui Q, Klarin D, Zhu X, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Ruotsalainen SE, Havulinna AS, Veturi Y, Feng Q, Rosenthal EA, Lingren T, Pacheco JA, Pendergrass SA, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Hindy G, Rasheed A, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Willemsen G, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Yao J, Manichaikul A, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Sidore C, Fiorillo E, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Thuesen BH, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesloot TE, Bradfield JP, Daw EW, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Feitosa MF, Wojczynski MK, Preuss M, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Kember RL, Slieker RC, Lo KS, Zilhao NR, Le P, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Leonard HL, Marten J, Schmidt B, Arendt M, Smyth LJ, Cañadas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-Kähönen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Ahmed M, Jackson AU, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Chai X, Prasad G, Lorés-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Hung YJ, Chen S, Liu F, Yang J, Kentistou KA, Gorski M, Brumat M, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Xue C, Zhang J, Concas MP, Vaccargiu S, van der Most PJ, Pitkänen N, Cade BE, Lee J, van der Laan SW, Chitrala KN, Weiss S, Zimmermann ME, Lee JY, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytikäinen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hildalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, Li X, Schwander K, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Highland HM, Young KL, Kawaguchi T, Thiery J, Bis JC, Nadkarni GN, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, Jäger S, Nabika T, Al-Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, Bhatti KF, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, Kähönen M, Pérusse L, Bouchard C, Tönjes A, Chen YI, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellström D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, Völzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Chen YE, Bandinelli S, Dedoussis G, Thanaraj TA, Kardia SLR, Kato N, Schulze MB, Girotto G, Jung B, Böger CA, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, den Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, Heng CK, Nelson AE, Golightly YM, Wilson JF, Penninx B, Kim HL, Attia J, Scott RJ, Rao DC, Arnett DK, Walker M, Koistinen HA, Chandak GR, Yajnik CS, Mercader JM, Tusié-Luna T, Aguilar-Salinas CA, Villalpando CG, Orozco L, Fornage M, Tai ES, van Dam RM, Lehtimäki T, Chaturvedi N, Yokota M, Liu J, Reilly DF, McKnight AJ, Kee F, Jöckel KH, McCarthy MI, Palmer CNA, Vitart V, Hayward C, Simonsick E, van Duijn CM, Lu F, Qu J, Hishigaki H, Lin X, März W, Parra EJ, Cruz M, Gudnason V, Tardif JC, Lettre G, 't Hart LM, Elders PJM, Damrauer SM, Kumari M, Kivimaki M, van der Harst P, Spector TD, Loos RJF, Province MA, Psaty BM, Brandslund I, Pramstaller PP, Christensen K, Ripatti S, Widén E, Hakonarson H, Grant SFA, Kiemeney LALM, de Graaf J, Loeffler M, Kronenberg F, Gu D, Erdmann J, Schunkert H, Franks PW, Linneberg A, Jukema JW, Khera AV, Männikkö M, Jarvelin MR, Kutalik Z, Cucca F, Mook-Kanamori DO, van Dijk KW, Watkins H, Strachan DP, Grarup N, Sever P, Poulter N, Rotter JI, Dantoft TM, Karpe F, Neville MJ, Timpson NJ, Cheng CY, Wong TY, Khor CC, Sabanayagam C, Peters A, Gieger C, Hattersley AT, Pedersen NL, Magnusson PKE, Boomsma DI, de Geus EJC, Cupples LA, van Meurs JBJ, Ghanbari M, Gordon-Larsen P, Huang W, Kim YJ, Tabara Y, Wareham NJ, Langenberg C, Zeggini E, Kuusisto J, Laakso M, Ingelsson E, Abecasis G, Chambers JC, Kooner JS, de Vries PS, Morrison AC, North KE, Daviglus M, Kraft P, Martin NG, Whitfield JB, Abbas S, Saleheen D, Walters RG, Holmes MV, Black C, Smith BH, Justice AE, Baras A, Buring JE, Ridker PM, Chasman DI, Kooperberg C, Wei WQ, Jarvik GP, Namjou B, Hayes MG, Ritchie MD, Jousilahti P, Salomaa V, Hveem K, Åsvold BO, Kubo M, Kamatani Y, Okada Y, Murakami Y, Thorsteinsdottir U, Stefansson K, Ho YL, Lynch JA, Rader DJ, Tsao PS, Chang KM, Cho K, O'Donnell CJ, Gaziano JM, Wilson P, Rotimi CN, Hazelhurst S, Ramsay M, Trembath RC, van Heel DA, Tamiya G, Yamamoto M, Kim BJ, Mohlke KL, Frayling TM, Hirschhorn JN, Kathiresan S; VA Million Veteran Program; Global Lipids Genetics Consortium*, Boehnke M, Natarajan P, Peloso GM, Brown CD, Morris AP, Assimes TL, Deloukas P, Sun YV, Willer CJ.
Nature. 2021 Dec 9. (Includes Nordic cohorts)
Combinatorial, additive and dose-dependent drug-microbiome associations.
Forslund SK, Chakaroun R, Zimmermann-Kogadeeva M, Markó L, Aron-Wisnewsky J, Nielsen T, Moitinho-Silva L, Schmidt TSB, Falony G, Vieira-Silva S, Adriouch S, Alves RJ, Assmann K, Bastard JP, Birkner T, Caesar R, Chilloux J, Coelho LP, Fezeu L, Galleron N, Helft G, Isnard R, Ji B, Kuhn M, Le Chatelier E, Myridakis A, Olsson L, Pons N, Prifti E, Quinquis B, Roume H, Salem JE, Sokolovska N, Tremaroli V, Valles-Colomer M, Lewinter C, Søndertoft NB, Pedersen HK, Hansen TH; MetaCardis Consortium*, Gøtze JP, Køber L, Vestergaard H, Hansen T, Zucker JD, Hercberg S, Oppert JM, Letunic I, Nielsen J, Bäckhed F, Ehrlich SD, Dumas ME, Raes J, Pedersen O, Clément K, Stumvoll M, Bork P.
Nature. 2021 Dec;600(7889):500-505. Epub 2021 Dec 8.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Johannesen KM, Iqbal S, Guazzi M, Mohammadi NA, Pérez-Palma E, Schaefer E, De Saint Martin A, Abiwarde MT, McTague A, Pons R, Piton A, Kurian MA, Ambegaonkar G, Firth H, Sanchis-Juan A, Deprez M, Jansen K, De Waele L, Briltra EH, Verbeek NE, van Kempen M, Fazeli W, Striano P, Zara F, Visser G, Braakman HMH, Haeusler M, Elbracht M, Vaher U, Smol T, Lemke JR, Platzer K, Kennedy J, Klein KM, Au PYB, Smyth K, Kaplan J, Thomas M, Dewenter MK, Dinopoulos A, Campbell AJ, Lal D, Lederer D, Liao VWY, Ahring PK, Møller RS, Gardella E.
Genet Med. 2021 Dec 7:S1098-3600(21)05382-X.
Impact of the APOBEC3A/B deletion polymorphism on risk of ovarian cancer.
Gansmo LB, Sofiyeva N, Bjørnslett M, Romundstad P, Hveem K, Vatten L, Dørum A, Lønning PE, Knappskog S.
Sci Rep. 2021 Dec 6;11(1):23463.
SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy.
Sourbron J, Jansen K, Mei D, Hammer TB, Møller RS, Gold NB, O'Grady L, Guerrini R, Lagae L.
Neuropediatrics. 2021 Dec 6.
Recessive Genome-wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes.
O'Connor MJ, Schroeder P, Huerta-Chagoya A, Cortés-Sánchez P, Bonàs-Guarch S, Guindo-Martínez M, Cole JB, Kaur V, Torrents D, Veerapen K, Grarup N, Kurki M, Rundsten CF, Pedersen O, Brandslund I, Linneberg A, Hansen T, Leong A, Florez JC, Mercader JM.
Diabetes. 2021 Dec 3:db210545.
Lipidomic and Metabolomic Signature of Progression of Chronic Kidney Disease in Patients with Severe Obesity.
Lanzon B, Martin-Taboada M, Castro-Alves V, Vila-Bedmar R, González de Pablos I, Duberg D, Gomez P, Rodriguez E, Orešič M, Hyötyläinen T, Morales E, Ruperez FJ, Medina-Gomez G.
Metabolites. 2021 Dec 3;11(12):836.
Improved Peripheral and Hepatic Insulin Sensitivity after Lifestyle Interventions in Type 2 Diabetes Is Associated with Specific Metabolomic and Lipidomic Signatures in Skeletal Muscle and Plasma.
Chorell E, Otten J, Stomby A, Ryberg M, Waling M, Hauksson J, Svensson M, Olsson T.
Metabolites. 2021 Dec 3;11(12):834.
Mapping the serum proteome to neurological diseases using whole genome sequencing.
Png G, Barysenka A, Repetto L, Navarro P, Shen X, Pietzner M, Wheeler E, Wareham NJ, Langenberg C, Tsafantakis E, Karaleftheri M, Dedoussis G, Mälarstig A, Wilson JF, Gilly A, Zeggini E.
Nat Commun. 2021 Dec 2;12(1):7042.
A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens.
Liu W, Johansson Å, Rask-Andersen H, Rask-Andersen M.
BMC Med. 2021 Dec 1;19(1):302.
Multiomics and digital monitoring during lifestyle changes reveal independent dimensions of human biology and health.
Marabita F, James T, Karhu A, Virtanen H, Kettunen K, Stenlund H, Boulund F, Hellström C, Neiman M, Mills R, Perheentupa T, Laivuori H, Helkkula P, Byrne M, Jokinen I, Honko H, Kallonen A, Ermes M, Similä H, Lindholm M, Widén E, Ripatti S, Perälä-Heape M, Engstrand L, Nilsson P, Moritz T, Miettinen T, Sallinen R, Kallioniemi O.
Cell Syst. 2021 Nov 30:S2405-4712(21)00451-8.
Two new mutations in the CEL gene causing diabetes and hereditary pancreatitis: How to correctly identify MODY8 cases.
El Jellas K, Dušátková P, Haldorsen IS, Molnes J, Tjora E, Johansson BB, Fjeld K, Johansson S, Průhová Š, Groop L, Löhr JM, Njølstad PR, Molven A.
J Clin Endocrinol Metab. 2021 Nov 29:dgab864.
A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study.
Bergström S, Öijerstedt L, Remnestål J, Olofsson J, Ullgren A, Seelaar H, van Swieten JC, Synofzik M, Sanchez-Valle R, Moreno F, Finger E, Masellis M, Tartaglia C, Vandenberghe R, Laforce R, Galimberti D, Borroni B, Butler CR, Gerhard A, Ducharme S, Rohrer JD, Månberg A, Graff C, Nilsson P; Genetic Frontotemporal Dementia Initiative (GENFI).
Mol Neurodegener. 2021 Nov 27;16(1):79.
Dissecting the contribution of single nucleotide polymorphisms in CCR9 and CCL25 genomic regions to the celiac disease phenotype.
Airaksinen L, Cerqueira JX, Huhtala H, Saavalainen P, Yohannes DA, Mäki M, Kurppa K, Kilpeläinen E, Shcherban A, Palotie A, Kaukinen K, Lindfors K.
J Transl Autoimmun. 2021 Oct 14;4:100128.
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative.
Nature. 2021 Dec;600(7889):472-477. Epub 2021 Jul 8.