Nordic Papers (1 May 2021)

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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NatGeneticsApril2021.pngFeatured

Genetic analyses identify widespread sex-differential participation bias.
Pirastu N, Cordioli M, Nandakumar P, Mignogna G, Abdellaoui A, Hollis B, Kanai M, Rajagopal VM, Parolo PDB, Baya N, Carey CE, Karjalainen J, Als TD, Van der Zee MD, Day FR, Ong KK; FinnGen Study; 23andMe Research Team; iPSYCH Consortium, Morisaki T, de Geus E, Bellocco R, Okada Y, Børglum AD, Joshi P, Auton A, Hinds D, Neale BM, Walters RK, Nivard MG, Perry JRB, Ganna A.
Nat Genet. 2021 Apr 22.

  • A genome-wide association study (GWAS) on a non-heritable trait – sex – in 3.3 million genotyped individuals identified 158 spurious associations that suggest participation bias. The differential participation of males and females in GWAS may correlate with the complex trait being studied. For example, the authors write, “females with higher genetic susceptibility to obesity are less likely to participate in studies than their male equivalents (or that genetically lean males are more likely to).” The paper discusses a conceptual framework to address this issue. The researchers performed the first GWAS on a 23andMe cohort and repeated it in four additional cohorts (UK Biobank, FinnGen, BioBank Japan, and iPSYCH). Senior author Andrea Ganna discussed the findings in a tweetorial, and first author Nicola Pirastu stressed two take-home points in another thread.

Image credit: Courtesy Nature Genetics

Biweekly List (Most Recent First)

Association of family history of schizophrenia and clinical outcomes in individuals with eating disorders.
Zhang R, Kuja-Halkola R, Birgegård A, Larsson H, Lichtenstein P, Bulik CM, Bergen SE.
Psychol Med. 2021 Apr 30:1-8.

Physical activity attenuates postprandial hyperglycaemia in homozygous TBC1D4 loss-of-function mutation carriers.
Schnurr TM, Jørsboe E, Chadt A, Dahl-Petersen IK, Kristensen JM, Wojtaszewski JFP, Springer C, Bjerregaard P, Brage S, Pedersen O, Moltke I, Grarup N, Al-Hasani H, Albrechtsen A, Jørgensen ME, Hansen T.
Diabetologia. 2021 Apr 29.

Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain.
Rahman MS, Winsvold BS, Chavez Chavez SO, Børte S, Tsepilov YA, Sharapov SZ; HUNT All-In Pain, Aulchenko YS, Hagen K, Fors EA, Hveem K, Zwart JA, van Meurs JB, Freidin MB, Williams FM.
Ann Rheum Dis. 2021 Apr 29:annrheumdis-2020-219624.

Co-occurring hydrocephalus in autism spectrum disorder: a Danish population-based cohort study.
Munch TN, Hedley PL, Hagen CM, Bækvad-Hansen M, Bybjerg-Grauholm J, Grove J, Nordentoft M, Børglum AD, Mortensen PB, Werge TM, Melbye M, Hougaard DM, Christiansen M.
J Neurodev Disord. 2021 Apr 28;13(1):19.

ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease.
Helkkula P, Kiiskinen T, Havulinna AS, Karjalainen J, Koskinen S, Salomaa V, Daly MJ, Palotie A, Surakka I, Ripatti S; FinnGen.
PLoS Genet. 2021 Apr 28;17(4):e1009501.

ENIGMA-Sleep: Challenges, opportunities, and the road map.
Tahmasian M, Aleman A, Andreassen OA, Arab Z, Baillet M, Benedetti F, Bresser T, Bright J, Chee MWL, Chylinski D, Cheng W, Deantoni M, Dresler M, Eickhoff SB, Eickhoff CR, Elvsåshagen T, Feng J, Foster-Dingley JC, Ganjgahi H, Grabe HJ, Groenewold NA, Ho TC, Bong Hong S, Houenou J, Irungu B, Jahanshad N, Khazaie H, Kim H, Koshmanova E, Kocevska D, Kochunov P, Lakbila-Kamal O, Leerssen J, Li M, Luik AI, Muto V, Narbutas J, Nilsonne G, O'Callaghan VS, Olsen A, Osorio RS, Poletti S, Poudel G, Reesen JE, Reneman L, Reyt M, Riemann D, Rosenzweig I, Rostampour M, Saberi A, Schiel J, Schmidt C, Schrantee A, Sciberras E, Silk TJ, Sim K, Smevik H, Soares JC, Spiegelhalder K, Stein DJ, Talwar P, Tamm S, Teresi GL, Valk SL, Van Someren E, Vandewalle G, Van Egroo M, Völzke H, Walter M, Wassing R, Weber FD, Weihs A, Westlye LT, Wright MJ, Wu MJ, Zak N, Zarei M.
J Sleep Res. 2021 Apr 28:e13347.

Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum.
Ejerskov C, Gaustadnes M, Ostergaard JR, Krogh K, Thorsen K, Borglum AD, Haagerup A.
Sci Rep. 2021 Apr 28;11(1):9179.

Small noncoding RNA profiling across cellular and biofluid compartments and their implications for multiple sclerosis immunopathology.
Zheleznyakova GY, Piket E, Needhamsen M, Hagemann-Jensen M, Ekman D, Han Y, James T, Khademi M, Al Nimer F, Scicluna P, Huang J, Kockum I, Faridani OR, Olsson T, Piehl F, Jagodic M.
Proc Natl Acad Sci U S A. 2021 Apr 27;118(17):e2011574118.

The pattern-recognition molecule H-ficolin in relation to diabetic kidney disease, mortality, and cardiovascular events in type 1 diabetes.
Østergaard JA, Jansson Sigfrids F, Forsblom C, Dahlström EH, Thorn LM, Harjutsalo V, Flyvbjerg A, Thiel S, Hansen TK, Groop PH.
Sci Rep. 2021 Apr 26;11(1):8919.

Modification of Heritability for Educational Attainment and Fluid Intelligence by Socioeconomic Deprivation in the UK Biobank.
Rask-Andersen M, Karlsson T, Ek WE, Johansson Å.
Am J Psychiatry. 2021 Apr 26:appiajp202020040462.

A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools.
Rowe AD, Stoway SD, Åhlman H, Arora V, Caggana M, Fornari A, Hagar A, Hall PL, Marquardt GC, Miller BJ, Nixon C, Norgan AP, Orsini JJ, Pettersen RD, Piazza AL, Schubauer NR, Smith AC, Tang H, Tavakoli NP, Wei S, Zetterström RH, Currier RJ, Mørkrid L, Rinaldo P.
Int J Neonatal Screen. 2021 Apr 23;7(2):23.

Systematic Coronary Risk Evaluation estimated risk and prevalent subclinical atherosclerosis in coronary and carotid arteries: A population-based cohort analysis from the Swedish Cardiopulmonary Bioimage Study.
Östgren CJ, Söderberg S, Festin K, Angerås O, Bergström G, Blomberg A, Brandberg J, Cederlund K, Eliasson M, Engström G, Erlinge D, Fagman E, Hagström E, Lind L, Mannila M, Nilsson U, Oldgren J, Ostenfeld E, Persson A, Persson J, Persson M, Rosengren A, Sundström J, Swahn E, Engvall JE, Jernberg T.
Eur J Prev Cardiol. 2021 Apr 23;28(3):250-259.

Homocysteine, B vitamins, and cardiovascular disease: a Mendelian randomization study.
Yuan S, Mason AM, Carter P, Burgess S, Larsson SC.
BMC Med. 2021 Apr 23;19(1):97.

Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease.
Zheng T, Ellinghaus D, Juzenas S, Cossais F, Burmeister G, Mayr G, Jørgensen IF, Teder-Laving M, Skogholt AH, Chen S, Strege PR, Ito G, Banasik K, Becker T, Bokelmann F, Brunak S, Buch S, Clausnitzer H, Datz C; DBDS Consortium, Degenhardt F, Doniec M, Erikstrup C, Esko T, Forster M, Frey N, Fritsche LG, Gabrielsen ME, Gräßle T, Gsur A, Gross J, Hampe J, Hendricks A, Hinz S, Hveem K, Jongen J, Junker R, Karlsen TH, Hemmrich-Stanisak G, Kruis W, Kupcinskas J, Laubert T, Rosenstiel PC, Röcken C, Laudes M, Leendertz FH, Lieb W, Limperger V, Margetis N, Mätz-Rensing K, Németh CG, Ness-Jensen E, Nowak-Göttl U, Pandit A, Pedersen OB, Peleikis HG, Peuker K, Rodriguez CL, Rühlemann MC, Schniewind B, Schulzky M, Skieceviciene J, Tepel J, Thomas L, Uellendahl-Werth F, Ullum H, Vogel I, Volzke H, von Fersen L, von Schönfels W, Vanderwerff B, Wilking J, Wittig M, Zeissig S, Zobel M, Zawistowski M, Vacic V, Sazonova O, Noblin ES; 23andMe Research Team, Farrugia G, Beyder A, Wedel T, Kahlke V, Schafmayer C, D'Amato M, Franke A.
Gut. 2021 Apr 22:gutjnl-2020-323868.

The Quandary of DNA-Based Treatment Assessment in De Novo Metastatic Prostate Cancer in the Era of Precision Oncology.
Nakken S, Lilleby W, Switlyk MD, Knudsen KE, Lilleby O, Zhao S, Kaveh F, Ekstrøm PO, Urbanucci A, Hovig E.
J Pers Med. 2021 Apr 22;11(5):330.

Cis-epistasis at the LPA locus and risk of cardiovascular diseases.
Zeng L, Moser S, Mirza-Schreiber N, Lamina C, Coassin S, Nelson CP, Annilo T, Franzén O, Kleber ME, Mack S, Andlauer TFM, Jiang B, Stiller B, Li L, Willenborg C, Munz M, Kessler T, Kastrati A, Laugwitz KL, Erdmann J, Moebus S, NöThen MM, Peters A, Strauch K, MüLler-Nurasyid M, Gieger C, Meitinger T, Steinhagen-Thiessen E, MäRz W, Metspalu A, BjöRkegren JLM, Samani NJ, Kronenberg F, MüLler-Myhsok B, Schunkert H.
Cardiovasc Res. 2021 Apr 20:cvab136.

FGL1 as a modulator of plasma D-dimer levels: exome-wide marker analysis of plasma tPA, PAI-1 and D-dimer.
Thibord F, Song C, Pattee J, Rodriguez BAT, Chen MH, O'Donnell CJ, Kleber ME, Delgado GE, Guo X, Yao J, Taylor KD, Ozel AB, Brody JA, McKnight B, Gyorgy B, Simonsick E, Leonard HL, Carrasquilla GD, Guindo-Martinez M, Silveira A, Temprano-Sagrera G, Yanek LR, Becker DM, Mathias RA, Becker LC, Raffield LM, Kilpeläinen TO, Grarup N, Pedersen O, Hansen T, Linneberg A, Hamsten A, Watkins H, Sabater-Lleal M, Nalls MA, Trégouët DA, Morange PE, Psaty BM, Tracy RP, Smith NL, Desch KC, Cushman M, Rotter JI, de Vries PS, Pankratz ND, Folsom AR, Morrison AC, März W, Tang W, Johnson AD.
J Thromb Haemost. 2021 Apr 20.

The copy number variation and stroke (CaNVAS) risk and outcome study.
Cole JW, Adigun T, Akinyemi R, Akpa OM, Bell S, Chen B, Jimenez Conde J, Lazcano Dobao U, Fernandez I, Fornage M, Gallego-Fabrega C, Jern C, Krawczak M, Lindgren A, Markus HS, Melander O, Owolabi M, Schlicht K, Söderholm M, Srinivasasainagendra V, Soriano Tárraga C, Stenman M, Tiwari H, Corasaniti M, Fecteau N, Guizzardi B, Lopez H, Nguyen K, Gaynor B, O'Connor T, Stine OC, Kittner SJ, McArdle P, Mitchell BD, Xu H, Grond-Ginsbach C.
PLoS One. 2021 Apr 19;16(4):e0248791.

Applying the adverse outcome pathway concept to questions in anaesthetic neurotoxicity.
Waspe J, Chico TJA, Hansen TG.
Br J Anaesth. 2021 Apr 19:S0007-0912(21)00170-7.

Germline variants at SOHLH2 influence multiple myeloma risk.
Duran-Lozano L, Thorleifsson G, Lopez de Lapuente Portilla A, Niroula A, Went M, Thodberg M, Pertesi M, Ajore R, Cafaro C, Olason PI, Stefansdottir L, Bragi Walters G, Halldorsson GH, Turesson I, Kaiser MF, Weinhold N, Abildgaard N, Andersen NF, Mellqvist UH, Waage A, Juul-Vangsted A, Thorsteinsdottir U, Hansson M, Houlston R, Rafnar T, Stefansson K, Nilsson B.
Blood Cancer J. 2021 Apr 19;11(4):76.

Association between body mass index and subcortical brain volumes in bipolar disorders-ENIGMA study in 2735 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, Díaz-Zuluaga AM, 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, Salvador R, Savitz J, Schmitt S, Schofield PR, Sim K, Stein DJ, Stein F, Temmingh HS, Thiel K, van Haren NEM, Gestel HV, Vargas C, Vieta E, Vreeker A, Waltemate L, Yatham LN, Ching CRK, Andreassen O, Thompson PM, Hajek T; ENIGMA Bipolar Disorders Working Group.
Mol Psychiatry. 2021 Apr 16.

Maternal Dietary Selenium Intake during Pregnancy and Neonatal Outcomes in the Norwegian Mother, Father, and Child Cohort Study.
Modzelewska D, Solé-Navais P, Brantsæter AL, Flatley C, Elfvin A, Meltzer HM, Sengpiel V, Barman M, Jacobsson B.
Nutrients. 2021 Apr 9;13(4):1239.

Cytomegalovirus infection and IQ in patients with severe mental illness and healthy individuals.
Andreou D, Jørgensen KN, Wortinger LA, Engen K, Vaskinn A, Ueland T, Yolken RH, Andreassen OA, Agartz I.
Psychiatry Res. 2021 Apr 7;300:113929.

Combinations of self-reported rhinitis, conjunctivitis, and asthma predicts IgE sensitization in more than 25,000 Danes.
Mikkelsen S, Dinh KM, Boldsen JK, Pedersen OB, Holst GJ, Petersen MS, Kaspersen KA, Møller BK, Nielsen KR, Paarup HM, Rostgaard K, Hjalgrim H, Sørensen E, Handgaard LJ, Hansen TF, Banasik K, Burgdorf KS, Ullum H, Sigsgaard T, Erikstrup C.
Clin Transl Allergy. 2021 Mar;11(1):e12013.