Nordic Papers (15 September 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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August Nordic Papers List (Most Recent First)

FIGO good practice recommendations on the importance of registry data for monitoring rates and health systems performance in prevention and management of preterm birth.
Frøen JF, Bianchi A, Moller AB, Jacobsson B; FIGO Working Group for Preterm Birth.
Int J Gynaecol Obstet. 2021 Oct;155(1):5-7.

Genome-wide association study of liver enzyme elevation in rheumatoid arthritis patients starting methotrexate.
Sundbaum JK, Baecklund E, Eriksson N, Kohnke H, Wallenberg M, Cavalli M, Wadelius C, Wadelius M, Hallberg P.
Pharmacogenomics. 2021 Sep 15. 

Metabolomics and lipidomics in NAFLD: biomarkers and non-invasive diagnostic tests.
Masoodi M, Gastaldelli A, Hyötyläinen T, Arretxe E, Alonso C, Gaggini M, Brosnan J, Anstee QM, Millet O, Ortiz P, Mato JM, Dufour JF, Orešič M.
Nat Rev Gastroenterol Hepatol. 2021 Sep 10. 

Attention-deficit/hyperactivity disorder and Alzheimer's disease and any dementia: A multi-generation cohort study in Sweden.
Zhang L, Du Rietz E, Kuja-Halkola R, Dobrosavljevic M, Johnell K, Pedersen NL, Larsson H, Chang Z.
Alzheimers Dement. 2021 Sep 9. 

Characterising the shared genetic determinants of bipolar disorder, schizophrenia and risk-taking.
Hindley G, Bahrami S, Steen NE, O'Connell KS, Frei O, Shadrin A, Bettella F, Rødevand L, Fan CC, Dale AM, Djurovic S, Smeland OB, Andreassen OA.
Transl Psychiatry. 2021 Sep 8;11(1):466.

A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease.
Wightman DP, Jansen IE, Savage JE, Shadrin AA, Bahrami S, Holland D, Rongve A, Børte S, Winsvold BS, Drange OK, Martinsen AE, Skogholt AH, Willer C, Bråthen G, Bosnes I, Nielsen JB, Fritsche LG, Thomas LF, Pedersen LM, Gabrielsen ME, Johnsen MB, Meisingset TW, Zhou W, Proitsi P, Hodges A, Dobson R, Velayudhan L; 23andMe Research Team, Sealock JM, Davis LK, Pedersen NL, Reynolds CA, Karlsson IK, Magnusson S, Stefansson H, Thordardottir S, Jonsson PV, Snaedal J, Zettergren A, Skoog I, Kern S, Waern M, Zetterberg H, Blennow K, Stordal E, Hveem K, Zwart JA, Athanasiu L, Selnes P, Saltvedt I, Sando SB, Ulstein I, Djurovic S, Fladby T, Aarsland D, Selbæk G, Ripke S, Stefansson K, Andreassen OA, Posthuma D.
Nat Genet. 2021 Sep 7;53(9):1276-1282. (
Tweetorial)

A compendium of uniformly processed human gene expression and splicing quantitative trait loci.
Kerimov N, Hayhurst JD, Peikova K, Manning JR, Walter P, Kolberg L, Samoviča M, Sakthivel MP, Kuzmin I, Trevanion SJ, Burdett T, Jupp S, Parkinson H, Papatheodorou I, Yates AD, Zerbino DR, Alasoo K.
Nat Genet. 2021 Sep 6;53(9):1290-1299. (
Tweetorial)

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation.
Min JL, Hemani G, Hannon E, Dekkers KF, Castillo-Fernandez J, Luijk R, Carnero-Montoro E, Lawson DJ, Burrows K, Suderman M, Bretherick AD, Richardson TG, Klughammer J, Iotchkova V, Sharp G, Al Khleifat A, Shatunov A, Iacoangeli A, McArdle WL, Ho KM, Kumar A, Söderhäll C, Soriano-Tárraga C, Giralt-Steinhauer E, Kazmi N, Mason D, McRae AF, Corcoran DL, Sugden K, Kasela S, Cardona A, Day FR, Cugliari G, Viberti C, Guarrera S, Lerro M, Gupta R, Bollepalli S, Mandaviya P, Zeng Y, Clarke TK, Walker RM, Schmoll V, Czamara D, Ruiz-Arenas C, Rezwan FI, Marioni RE, Lin T, Awaloff Y, Germain M, Aïssi D, Zwamborn R, van Eijk K, Dekker A, van Dongen J, Hottenga JJ, Willemsen G, Xu CJ, Barturen G, Català-Moll F, Kerick M, Wang C, Melton P, Elliott HR, Shin J, Bernard M, Yet I, Smart M, Gorrie-Stone T; BIOS Consortium, Shaw C, Al Chalabi A, Ring SM, Pershagen G, Melén E, Jiménez-Conde J, Roquer J, Lawlor DA, Wright J, Martin NG, Montgomery GW, Moffitt TE, Poulton R, Esko T, Milani L, Metspalu A, Perry JRB, Ong KK, Wareham NJ, Matullo G, Sacerdote C, Panico S, Caspi A, Arseneault L, Gagnon F, Ollikainen M, Kaprio J, Felix JF, Rivadeneira F, Tiemeier H, van IJzendoorn MH, Uitterlinden AG, Jaddoe VWV, Haley C, McIntosh AM, Evans KL, Murray A, Räikkönen K, Lahti J, Nohr EA, Sørensen TIA, Hansen T, Morgen CS, Binder EB, Lucae S, Gonzalez JR, Bustamante M, Sunyer J, Holloway JW, Karmaus W, Zhang H, Deary IJ, Wray NR, Starr JM, Beekman M, van Heemst D, Slagboom PE, Morange PE, Trégouët DA, Veldink JH, Davies GE, de Geus EJC, Boomsma DI, Vonk JM, Brunekreef B, Koppelman GH, Alarcón-Riquelme ME, Huang RC, Pennell CE, van Meurs J, Ikram MA, Hughes AD, Tillin T, Chaturvedi N, Pausova Z, Paus T, Spector TD, Kumari M, Schalkwyk LC, Visscher PM, Davey Smith G, Bock C, Gaunt TR, Bell JT, Heijmans BT, Mill J, Relton CL.
Nat Genet. 2021 Sep 6;53(9):1311-1321. (Includes cohorts from Denmark [1], Estonia [2], Finland [3], and Sweden [1].)

Translating polygenic risk scores for clinical use by estimating the confidence bounds of risk prediction.
Sun J, Wang Y, Folkersen L, Borné Y, Amlien I, Buil A, Orho-Melander M, Børglum AD, Hougaard DM; Regeneron Genetics Center, Melander O, Engström G, Werge T, Lage K.
Nat Commun. 2021 Sep 6;12(1):5276.

Maternal and offspring genetic risk score analyses of fetal alcohol exposure and attention-deficit hyperactivity disorder risk in offspring.
Haan E, Sallis HM, Ystrom E, Njølstad PR, Andreassen OA, Reichborn-Kjennerud T, Munafò MR, Havdahl A, Zuccolo L.
Alcohol Clin Exp Res. 2021 Sep 6.

Evening chronotype is associated with elevated biomarkers of cardiometabolic risk in the EpiHealth cohort: a cross-sectional study.
Baldanzi G, Hammar U, Fall T, Lindberg E, Lind L, Elmståhl S, Theorell-Haglöw J.
Sleep. 2021 Sep 4:zsab226. 

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y, Arribas GH, Turku A, Jürgenson T, Mkrtchian S, Krebs K, Wang Y, Svobodova B, Milani L, Schulte G, Korabecny J, Gastaldello S, Lauschke VM.
Sci Adv. 2021 Sep 3;7(36):eabi6856.

The genomics of heart failure: design and rationale of the HERMES consortium.
Lumbers RT, Shah S, Lin H, Czuba T, Henry A, Swerdlow DI, Mälarstig A, Andersson C, Verweij N, Holmes MV, Ärnlöv J, Svensson P, Hemingway H, Sallah N, Almgren P, Aragam KG, Asselin G, Backman JD, Biggs ML, Bloom HL, Boersma E, Brandimarto J, Brown MR, Brunner-La Rocca HP, Carey DJ, Chaffin MD, Chasman DI, Chazara O, Chen X, Chen X, Chung JH, Chutkow W, Cleland JGF, Cook JP, de Denus S, Dehghan A, Delgado GE, Denaxas S, Doney AS, Dörr M, Dudley SC, Engström G, Esko T, Fatemifar G, Felix SB, Finan C, Ford I, Fougerousse F, Fouodjio R, Ghanbari M, Ghasemi S, Giedraitis V, Giulianini F, Gottdiener JS, Gross S, Guðbjartsson DF, Gui H, Gutmann R, Haggerty CM, van der Harst P, Hedman ÅK, Helgadottir A, Hillege H, Hyde CL, Jacob J, Jukema JW, Kamanu F, Kardys I, Kavousi M, Khaw KT, Kleber ME, Køber L, Koekemoer A, Kraus B, Kuchenbaecker K, Langenberg C, Lind L, Lindgren CM, London B, Lotta LA, Lovering RC, Luan J, Magnusson P, Mahajan A, Mann D, Margulies KB, Marston NA, März W, McMurray JJV, Melander O, Melloni G, Mordi IR, Morley MP, Morris AD, Morris AP, Morrison AC, Nagle MW, Nelson CP, Newton-Cheh C, Niessner A, Niiranen T, Nowak C, O'Donoghue ML, Owens AT, Palmer CNA, Paré G, Perola M, Perreault LL, Portilla-Fernandez E, Psaty BM, Rice KM, Ridker PM, Romaine SPR, Roselli C, Rotter JI, Ruff CT, Sabatine MS, Salo P, Salomaa V, van Setten J, Shalaby AA, Smelser DT, Smith NL, Stefansson K, Stender S, Stott DJ, Sveinbjörnsson G, Tammesoo ML, Tardif JC, Taylor KD, Teder-Laving M, Teumer A, Thorgeirsson G, Thorsteinsdottir U, Torp-Pedersen C, Trompet S, Tuckwell D, Tyl B, Uitterlinden AG, Vaura F, Veluchamy A, Visscher PM, Völker U, Voors AA, Wang X, Wareham NJ, Weeke PE, Weiss R, White HD, Wiggins KL, Xing H, Yang J, Yang Y, Yerges-Armstrong LM, Yu B, Zannad F, Zhao F; Regeneron Genetics Center, Wilk JB, Holm H, Sattar N, Lubitz SA, Lanfear DE, Shah S, Dunn ME, Wells QS, Asselbergs FW, Hingorani AD, Dubé MP, Samani NJ, Lang CC, Cappola TP, Ellinor PT, Vasan RS, Smith JG.
ESC Heart Fail. 2021 Sep 3. 

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.
Võsa U, Claringbould A, Westra HJ, Bonder MJ, Deelen P, Zeng B, Kirsten H, Saha A, Kreuzhuber R, Yazar S, Brugge H, Oelen R, de Vries DH, van der Wijst MGP, Kasela S, Pervjakova N, Alves I, Favé MJ, Agbessi M, Christiansen MW, Jansen R, Seppälä I, Tong L, Teumer A, Schramm K, Hemani G, Verlouw J, Yaghootkar H, Sönmez Flitman R, Brown A, Kukushkina V, Kalnapenkis A, Rüeger S, Porcu E, Kronberg J, Kettunen J, Lee B, Zhang F, Qi T, Hernandez JA, Arindrarto W, Beutner F; BIOS Consortium; i2QTL Consortium, Dmitrieva J, Elansary M, Fairfax BP, Georges M, Heijmans BT, Hewitt AW, Kähönen M, Kim Y, Knight JC, Kovacs P, Krohn K, Li S, Loeffler M, Marigorta UM, Mei H, Momozawa Y, Müller-Nurasyid M, Nauck M, Nivard MG, Penninx BWJH, Pritchard JK, Raitakari OT, Rotzschke O, Slagboom EP, Stehouwer CDA, Stumvoll M, Sullivan P, 't Hoen PAC, Thiery J, Tönjes A, van Dongen J, van Iterson M, Veldink JH, Völker U, Warmerdam R, Wijmenga C, Swertz M, Andiappan A, Montgomery GW, Ripatti S, Perola M, Kutalik Z, Dermitzakis E, Bergmann S, Frayling T, van Meurs J, Prokisch H, Ahsan H, Pierce BL, Lehtimäki T, Boomsma DI, Psaty BM, Gharib SA, Awadalla P, Milani L, Ouwehand WH, Downes K, Stegle O, Battle A, Visscher PM, Yang J, Scholz M, Powell J, Gibson G, Esko T, Franke L.
Nat Genet. 2021 Sep 2;53(9):1300-1310. (
Tweetorial) (News release)

Genome-wide analysis reveals genetic overlap between alcohol use behaviors, schizophrenia and bipolar disorder and identifies novel shared risk loci.
Wiström ED, O'Connell KS, Karadag N, Bahrami S, Hindley GFL, Lin A, Cheng W, Steen NE, Shadrin A, Frei O, Djurovic S, Dale AM, Andreassen OA, Smeland OB.
Addiction. 2021 Sep 2.  

Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers.
Svensson A, Platonov PG, Haugaa KH, Zareba W, Jensen HK, Bundgaard H, Gilljam T, Madsen T, Hansen J, Dejgaard LA, Karlsson LO, Gréen A, Polonsky B, Edvardsen T, Svendsen JH, Gunnarsson C.
Cardiology. 2021 Sep 1. 

Impact of risk factors for major cardiovascular diseases: a comparison of life-time observational and Mendelian randomisation findings.
Lind L, Ingelsson M, Sundstrom J, Ärnlöv J.
Open Heart. 2021 Sep;8(2):e001735.

Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
Fridriksdottir R, Jonsson AJ, Jensson BO, Sverrisson KO, Arnadottir GA, Skarphedinsdottir SJ, Katrinardottir H, Snaebjornsdottir S, Jonsson H, Eiriksson O, Oskarsson GR, Oddsson A, Jonasdottir A, Jonasdottir A, Sigurdsson GH, Indridason EP, Sigurdsson SB, Bjornsdottir G, Saemundsdottir J, Magnusson OT, Bjornsson HT, Thorsteinsdottir U, Sigurdsson TS, Sulem P, Sigurdsson MI, Stefansson K.
Eur J Hum Genet. 2021 Aug 31.

Urinary proteomics combined with home blood pressure telemonitoring for health care reform trial: rational and protocol.
Thijs L, Asayama K, Maestre GE, Hansen TW, Buyse L, Wei DM, Melgarejo JD, Brguljan-Hitij J, Cheng HM, de Souza F, Gilis-Malinowska N, Kawecka-Jaszcz K, Mels C, Mokwatsi G, Muxfeldt ES, Narkiewicz K, Odili AN, Rajzer M, Schutte AE, Stolarz-Skrzypek K, Tsai YW, Vanassche T, Vanholder R, Zhang ZY, Verhamme P, Kruger R, Mischak H, Staessen JA; UPRIGHT-HTM Investigators; Coordinating, Logistic; Recruiting, and; Urinary Proteomics Centres,; Advisors.
Blood Press. 2021 Aug 30:1-13.