1 February 2021. We’re welcoming 2021 with a regular list of new papers. This first collection goes back six weeks (16 December 2020 to 29 January 2021), and then we’ll post regular updates on the latest research and information. What are we missing? Please contact us with suggestions and any other ideas you have for keeping the community up to date.
Highlight
Differences between germline genomes of monozygotic twins.
Jonsson H, Magnusdottir E, Eggertsson HP, Stefansson OA, Arnadottir GA, Eiriksson O, Zink F, Helgason EA, Jonsdottir I, Gylfason A, Jonasdottir A, Jonasdottir A, Beyter D, Steingrimsdottir T, Norddahl GL, Magnusson OT, Masson G, Halldorsson BV, Thorsteinsdottir U, Helgason A, Sulem P, Gudbjartsson DF, Stefansson K.
Nat Genet. 2021 Jan;53(1):27-34.
Contrary to assumptions of identical genetics of monozygotic twins, scientists at deCODE genetics in Iceland found mutations present in just one twin and traced them back to the first days after conception. The study inspired the January 2021 cover of Nature Genetics featuring the Gemini constellation. (News release)
Weekly List (Most Recent First)
The Role of Inflammatory Cytokines as Intermediates in the Pathway from Increased Adiposity to Disease.
Kalaoja M, Corbin LJ, Tan VY, Ahola-Olli AV, Havulinna AS, Santalahti K, Pitkänen N, Lehtimäki T, Lyytikäinen LP, Raitoharju E, Seppälä I, Kähönen M, Ripatti S, Palotie A, Perola M, Viikari JS, Jalkanen S, Maksimow M, Salomaa V, Salmi M, Raitakari OT, Kettunen J, Timpson NJ.
Obesity (Silver Spring). 2021 Feb;29(2):428-437.
Genome-wide association study of patients with a severe major depressive episode treated with electroconvulsive therapy.
Clements CC, Karlsson R, Lu Y, Juréus A, Rück C, Andersson E, Boberg J, Pedersen NL, Bulik CM, Nordenskjöld A, Pålsson E, Sullivan PF, Landén M.
Mol Psychiatry. 2021 Jan 22.
Cohort Profile: The Norwegian life course, ageing and generation study (NorLAG).
Veenstra M, Herlofson K, Aartsen M, Hansen T, Hellevik T, Henriksen G, Løset GK, Vangen H.
Int J Epidemiol. 2021 Jan 26.
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, Ribasas 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 Jan 25;12(1):576.
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, Abecasis G, Akil H, Bergen S, Burmeister M, Champion S, DelaBastide M, Juréus A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Zöllner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ.
Mol Psychiatry. 2021 Jan 22.
Genome-wide association study of patients with a severe major depressive episode treated with electroconvulsive therapy.
Clements CC, Karlsson R, Lu Y, Juréus A, Rück C, Andersson E, Boberg J, Pedersen NL, Bulik CM, Nordenskjöld A, Pålsson E, Sullivan PF, Landén M.
Mol Psychiatry. 2021 Jan 22.
LRIG proteins regulate lipid metabolism via BMP signaling and affect the risk of type 2 diabetes.
Herdenberg C, Mutie PM, Billing O, Abdullah A, Strawbridge RJ, Dahlman I, Tuck S, Holmlund C, Arner P, Henriksson R, Franks PW, Hedman H.
Commun Biol. 2021 Jan 19;4(1):90.
Large-scale association analyses identify host factors influencing human gut microbiome composition.
Kurilshikov A, Medina-Gomez C, Bacigalupe R, Radjabzadeh D, Wang J, Demirkan A, Le Roy CI, Raygoza Garay JA, Finnicum CT, Liu X, Zhernakova DV, Bonder MJ, Hansen TH, Frost F, Rühlemann MC, Turpin W, Moon JY, Kim HN, Lüll K, Barkan E, Shah SA, Fornage M, Szopinska-Tokov J, Wallen ZD, Borisevich D, Agreus L, Andreasson A, Bang C, Bedrani L, Bell JT, Bisgaard H, Boehnke M, Boomsma DI, Burk RD, Claringbould A, Croitoru K, Davies GE, van Duijn CM, Duijts L, Falony G, Fu J, van der Graaf A, Hansen T, Homuth G, Hughes DA, Ijzerman RG, Jackson MA, Jaddoe VWV, Joossens M, Jørgensen T, Keszthelyi D, Knight R, Laakso M, Laudes M, Launer LJ, Lieb W, Lusis AJ, Masclee AAM, Moll HA, Mujagic Z, Qibin Q, Rothschild D, Shin H, Sørensen SJ, Steves CJ, Thorsen J, Timpson NJ, Tito RY, Vieira-Silva S, Völker U, Völzke H, Võsa U, Wade KH, Walter S, Watanabe K, Weiss S, Weiss FU, Weissbrod O, Westra HJ, Willemsen G, Payami H, Jonkers DMAE, Arias Vasquez A, de Geus EJC, Meyer KA, Stokholm J, Segal E, Org E, Wijmenga C, Kim HL, Kaplan RC, Spector TD, Uitterlinden AG, Rivadeneira F, Franke A, Lerch MM, Franke L, Sanna S, D'Amato M, Pedersen O, Paterson AD, Kraaij R, Raes J, Zhernakova A.
Nat Genet. 2021 Jan 18.
Genetics of 35 blood and urine biomarkers in the UK Biobank.
Sinnott-Armstrong N, Tanigawa Y, Amar D, Mars N, Benner C, Aguirre M, Venkataraman GR, Wainberg M, Ollila HM, Kiiskinen T, Havulinna AS, Pirruccello JP, Qian J, Shcherbina A; FinnGen, Rodriguez F, Assimes TL, Agarwala V, Tibshirani R, Hastie T, Ripatti S, Pritchard JK, Daly MJ, Rivas MA.
Nat Genet. 2021 Jan 18.
Genetic loci shared between major depression and intelligence with mixed directions of effect.
Bahrami S, Shadrin A, Frei O, O'Connell KS, Bettella F, Krull F, Fan CC, Røssberg JI, Hindley G, Ueland T, Dale AM, Djurovic S, Steen NE, Smeland OB, Andreassen OA.
Nat Hum Behav. 2021 Jan 18.
SeeCiTe: a method to assess CNV calls from SNP arrays using trio data.
Lavrichenko K, Helgeland Ø, Njølstad PR, Jonassen I, Johansson S.
Bioinformatics. 2021 Jan 18.
Structural brain imaging studies offer clues about the effects of the shared genetic etiology among neuropsychiatric disorders.
Radonjić NV, Hess JL, Rovira P, Andreassen O, Buitelaar JK, Ching CRK, Franke B, Hoogman M, Jahanshad N, McDonald C, Schmaal L, Sisodiya SM, Stein DJ, van den Heuvel OA, van Erp TGM, van Rooij D, Veltman DJ, Thompson P, Faraone SV.
Mol Psychiatry. 2021 Jan 17.
Identification of genetic loci associated with nocturnal enuresis: a genome-wide association study.
Jørgensen CS, Horsdal HT, Rajagopal VM, Grove J, Als TD, Kamperis K, Nyegaard M, Walters GB, Eðvarðsson VÖ, Stefánsson H, Nordentoft M, Hougaard DM, Werge T, Mors O, Mortensen PB, Agerbo E, Rittig S, Stefánsson K, Børglum AD, Demontis D, Christensen JH.
Lancet Child Adolesc Health. 2021 Jan 14:S2352-4642(20)30350-3.
Integrating lipidomics and genomics: emerging tools to understand cardiovascular diseases.
Tabassum R, Ripatti S.
Cell Mol Life Sci. 2021 Jan 15. Review.
Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes.
Cerqueira JXM, Saavalainen P, Kurppa K, Laurikka P, Huhtala H, Nykter M, L E Koskinen L, Yohannes DA, Kilpeläinen E, Shcherban A, Palotie A, Kaukinen K, Lindfors K.
J Hum Genet. 2021 Jan 15.
Comparison of urinary extracellular vesicle isolation methods for transcriptomic biomarker research in diabetic kidney disease.
Barreiro K, Dwivedi OP, Leparc G, Rolser M, Delic D, Forsblom C, Groop PH, Groop L, Huber TB, Puhka M, Holthofer H.
J Extracell Vesicles. 2020 Dec;10(2):e12038. Epub 2021 Jan 7.
Risk of Early-Onset Depression Associated With Polygenic Liability, Parental Psychiatric History, and Socioeconomic Status.
Agerbo E, Trabjerg BB, Børglum AD, Schork AJ, Vilhjálmsson BJ, Pedersen CB, Hakulinen C, Albiñana C, Hougaard DM, Grove J, McGrath JJ, Bybjerg-Grauholm J, Mors O, Plana-Ripoll O, Werge T, Wray NR, Mortensen PB, Musliner KL.
JAMA Psychiatry. 2021 Jan 13:e204172. Online ahead of print.
Sleep apnoea is a risk factor for severe COVID-19.
Strausz S, Kiiskinen T, Broberg M, Ruotsalainen S, Koskela J, Bachour A; FinnGen, Palotie A, Palotie T, Ripatti S, Ollila HM.
BMJ Open Respir Res. 2021 Jan;8(1):e000845.
Lifestyle Intervention in Pregnant Women With Obesity Impacts Cord Blood DNA Methylation Which Associates With Body Composition in the Offspring.
Jönsson J, Renault KM, García-Calzón S, Perfilyev A, Estampador AC, Nørgaard K, Lind MV, Vaag A, Hjort L, Michaelsen KF, Carlsen EM, Franks PW, Ling C.
Diabetes. 2021 Jan 11:db200487. Online ahead of print.
The state of the science in psychiatric genomics.
Sullivan PF, Kendler KS.
Psychol Med. 2021 Jan 12:1-3. doi: 10.1017/S0033291720004900. Online ahead of print.
Chronic migraine: Genetics or environment?
Chalmer MA, Rasmussen AH; International Headache Genetics Consortium; 23andme Research Team, Kogelman LJA, Olesen J, Hansen TF.
Eur J Neurol. 2021 Jan 11. Online ahead of print.
Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer.
Karunamuni RA, Huynh-Le MP, Fan CC, Thompson W, Eeles RA, Kote-Jarai Z, Muir K, Lophatananon A; UKGPCS collaborators, Schleutker J, Pashayan N, Batra J; APCB BioResource (Australian Prostate Cancer BioResource), Grönberg H, Walsh EI, Turner EL, Lane A, Martin RM, Neal DE, Donovan JL, Hamdy FC, Nordestgaard BG, Tangen CM, MacInnis RJ, Wolk A, Albanes D, Haiman CA, Travis RC, Stanford JL, Mucci LA, West CML, Nielsen SF, Kibel AS, Wiklund F, Cussenot O, Berndt SI, Koutros S, Sørensen KD, Cybulski C, Grindedal EM, Park JY, Ingles SA, Maier C, Hamilton RJ, Rosenstein BS, Vega A; IMPACT Study Steering Committee and Collaborators, Kogevinas M, Penney KL, Teixeira MR, Brenner H, John EM, Kaneva R, Logothetis CJ, Neuhausen SL, Razack A, Newcomb LF; Canary PASS Investigators, Gamulin M, Usmani N, Claessens F, Gago-Dominguez M, Townsend PA, Roobol MJ, Zheng W; Profile Study Steering Committee, Mills IG, Andreassen OA, Dale AM, Seibert TM; PRACTICAL Consortium.
Prostate Cancer Prostatic Dis. 2021 Jan 8. Online ahead of print.
Integrating genetics with newborn metabolomics in infantile hypertrophic pyloric stenosis.
Fadista J, Skotte L, Courraud J, Geller F, Gørtz S, Wohlfahrt J, Melbye M, Cohen AS, Feenstra B.
Metabolomics. 2021 Jan 8;17(1):7.
Toward better governance of human genomic data.
O'Doherty KC, Shabani M, Dove ES, Bentzen HB, Borry P, Burgess MM, Chalmers D, De Vries J, Eckstein L, Fullerton SM, Juengst E, Kato K, Kaye J, Knoppers BM, Koenig BA, Manson SM, McGrail KM, McGuire AL, Meslin EM, Nicol D, Prainsack B, Terry SF, Thorogood A, Burke W.Nat Genet. 2021 Jan;53(1):2-8.
Polygenic overlap and shared genetic loci between loneliness, severe mental disorders, and cardiovascular disease risk factors suggest shared molecular mechanisms.
Rødevand L, Bahrami S, Frei O, Lin A, Gani O, Shadrin A, Smeland OB, Connell KSO, Elvsåshagen T, Winterton A, Quintana DS, Hindley GFL, Werner MCF, Djurovic S, Dale AM, Lagerberg TV, Steen NE, Andreassen OA.
Transl Psychiatry. 2021 Jan 5;11(1):3.
Joint association between education and polygenic risk score for incident coronary heart disease events: a longitudinal population-based study of 26 203 men and women.
Martikainen P, Korhonen K, Jelenkovic A, Lahtinen H, Havulinna A, Ripatti S, Borodulin K, Salomaa V, Davey Smith G, Silventoinen K.
J Epidemiol Community Health. 2021 Jan 6. Online ahead of print.
Genome-wide association study of circulating levels of glucagon during an oral glucose tolerance test.
Jonsson A, Stinson SE, Torekov SS, Clausen TD, Færch K, Kelstrup L, Grarup N, Mathiesen ER, Damm P, Witte DR, Jørgensen ME, Pedersen O, Holst JJ, Hansen T.
BMC Med Genomics. 2021 Jan 6;14(1):3.
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.
Lagou V, Mägi R, Hottenga JJ, Grallert H, Perry JRB, Bouatia-Naji N, Marullo L, Rybin D, Jansen R, Min JL, Dimas AS, Ulrich A, Zudina L, Gådin JR, Jiang L, Faggian A, Bonnefond A, Fadista J, Stathopoulou MG, Isaacs A, Willems SM, Navarro P, Tanaka T, Jackson AU, Montasser ME, O'Connell JR, Bielak LF, Webster RJ, Saxena R, Stafford JM, Pourcain BS, Timpson NJ, Salo P, Shin SY, Amin N, Smith AV, Li G, Verweij N, Goel A, Ford I, Johnson PCD, Johnson T, Kapur K, Thorleifsson G, Strawbridge RJ, Rasmussen-Torvik LJ, Esko T, Mihailov E, Fall T, Fraser RM, Mahajan A, Kanoni S, Giedraitis V, Kleber ME, Silbernagel G, Meyer J, Müller-Nurasyid M, Ganna A, Sarin AP, Yengo L, Shungin D, Luan J, Horikoshi M, An P, Sanna S, Boettcher Y, Rayner NW, Nolte IM, Zemunik T, Iperen EV, Kovacs P, Hastie ND, Wild SH, McLachlan S, Campbell S, Polasek O, Carlson O, Egan J, Kiess W, Willemsen G, Kuusisto J, Laakso M, Dimitriou M, Hicks AA, Rauramaa R, Bandinelli S, Thorand B, Liu Y, Miljkovic I, Lind L, Doney A, Perola M, Hingorani A, Kivimaki M, Kumari M, Bennett AJ, Groves CJ, Herder C, Koistinen HA, Kinnunen L, Faire U, Bakker SJL, Uusitupa M, Palmer CNA, Jukema JW, Sattar N, Pouta A, Snieder H, Boerwinkle E, Pankow JS, Magnusson PK, Krus U, Scapoli C, de Geus EJCN, Blüher M, Wolffenbuttel BHR, Province MA, Abecasis GR, Meigs JB, Hovingh GK, Lindström J, Wilson JF, Wright AF, Dedoussis GV, Bornstein SR, Schwarz PEH, Tönjes A, Winkelmann BR, Boehm BO, März W, Metspalu A, Price JF, Deloukas P, Körner A, Lakka TA, Keinanen-Kiukaanniemi SM, Saaristo TE, Bergman RN, Tuomilehto J, Wareham NJ, Langenberg C, Männistö S, Franks PW, Hayward C, Vitart V, Kaprio J, Visvikis-Siest S, Balkau B, Altshuler D, Rudan I, Stumvoll M, Campbell H, van Duijn CM, Gieger C, Illig T, Ferrucci L, Pedersen NL, Pramstaller PP, Boehnke M, Frayling TM, Shuldiner AR, Peyser PA, Kardia SLR, Palmer LJ, Penninx BW, Meneton P, Harris TB, Navis G, Harst PV, Smith GD, Forouhi NG, Loos RJF, Salomaa V, Soranzo N, Boomsma DI, Groop L, Tuomi T, Hofman A, Munroe PB, Gudnason V, Siscovick DS, Watkins H, Lecoeur C, Vollenweider P, Franco-Cereceda A, Eriksson P, Jarvelin MR, Stefansson K, Hamsten A, Nicholson G, Karpe F, Dermitzakis ET, Lindgren CM, McCarthy MI, Froguel P, Kaakinen MA, Lyssenko V, Watanabe RM, Ingelsson E, Florez JC, Dupuis J, Barroso I, Morris AP, Prokopenko I; Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC).
Nat Commun. 2021 Jan 5;12(1):24.
Chance of live birth: a nationwide, registry-based cohort study.
Kolte AM, Westergaard D, Lidegaard Ø, Brunak S, Nielsen HS.
Hum Reprod. 2021 Jan 4:deaa326. Online ahead of print.
ARDD 2020: from aging mechanisms to interventions.
Mkrtchyan GV, Abdelmohsen K, Andreux P, Bagdonaite I, Barzilai N, Brunak S, Cabreiro F, de Cabo R, Campisi J, Cuervo AM, Demaria M, Ewald CY, Fang EF, Faragher R, Ferrucci L, Freund A, Silva-García CG, Georgievskaya A, Gladyshev VN, Glass DJ, Gorbunova V, de Grey A, He WW, Hoeijmakers J, Hoffmann E, Horvath S, Houtkooper RH, Jensen MK, Jensen MB, Kane A, Kassem M, de Keizer P, Kennedy B, Karsenty G, Lamming DW, Lee KF, MacAulay N, Mamoshina P, Mellon J, Molenaars M, Moskalev A, Mund A, Niedernhofer L, Osborne B, Pak HH, Parkhitko A, Raimundo N, Rando TA, Rasmussen LJ, Reis C, Riedel CG, Franco-Romero A, Schumacher B, Sinclair DA, Suh Y, Taub PR, Toiber D, Treebak JT, Valenzano DR, Verdin E, Vijg J, Young S, Zhang L, Bakula D, Zhavoronkov A, Scheibye-Knudsen M.
Aging (Albany NY). 2020 Dec 30;12(24):24484-24503. Epub 2020 Dec 30.
Copeptin and renal function decline, cardiovascular events and mortality in type 1 diabetes.
Heinrich NS, Theilade S, Winther SA, Tofte N, Ahluwalia TS, Jeppesen JL, Persson F, Hansen TW, Goetze JP, Rossing P.
Nephrol Dial Transplant. 2020 Dec 26:gfaa308. Online ahead of print.
Evidence for shared genetics between physical activity, sedentary behaviour and adiposity-related traits.
Schnurr TM, Stallknecht BM, Sørensen TIA, Kilpeläinen TO, Hansen T.
Obes Rev. 2020 Dec 22. Online ahead of print. Review.
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nielsen JB, Rom O, Surakka I, Graham SE, Zhou W, Roychowdhury T, Fritsche LG, Gagliano Taliun SA, Sidore C, Liu Y, Gabrielsen ME, Skogholt AH, Wolford B, Overton W, Zhao Y, Chen J, Zhang H, Hornsby WE, Acheampong A, Grooms A, Schaefer A, Zajac GJM, Villacorta L, Zhang J, Brumpton B, Løset M, Rai V, Lundegaard PR, Olesen MS, Taylor KD, Palmer ND, Chen YD, Choi SH, Lubitz SA, Ellinor PT, Barnes KC, Daya M, Rafaels N, Weiss ST, Lasky-Su J, Tracy RP, Vasan RS, Cupples LA, Mathias RA, Yanek LR, Becker LC, Peyser PA, Bielak LF, Smith JA, Aslibekyan S, Hidalgo BA, Arnett DK, Irvin MR, Wilson JG, Musani SK, Correa A, Rich SS, Guo X, Rotter JI, Konkle BA, Johnsen JM, Ashley-Koch AE, Telen MJ, Sheehan VA, Blangero J, Curran JE, Peralta JM, Montgomery C, Sheu WH, Chung RH, Schwander K, Nouraie SM, Gordeuk VR, Zhang Y, Kooperberg C, Reiner AP, Jackson RD, Bleecker ER, Meyers DA, Li X, Das S, Yu K, LeFaive J, Smith A, Blackwell T, Taliun D, Zollner S, Forer L, Schoenherr S, Fuchsberger C, Pandit A, Zawistowski M, Kheterpal S, Brummett CM, Natarajan P, Schlessinger D, Lee S, Kang HM, Cucca F, Holmen OL, Åsvold BO, Boehnke M, Kathiresan S, Abecasis GR, Chen YE, Willer CJ, Hveem K.
Nat Commun. 2020 Dec 18;11(1):6417.
MuscleAtlasExplorer: a web service for studying gene expression in human skeletal muscle.
Asplund O, Rung J, Groop L, Prasad B R, Hansson O.
Database (Oxford). 2020 Dec 18;2020:baaa111.
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A, Hansen TVO, Stoltze UK, Mehrjouy MM, Barnkob NM, Hjalgrim LL, Mathiasen R, Lautrup CK, Gregersen PA, Hasle H, Wehner PS, Tuckuviene R, Sackett PW, Laspiur AO, Rossing M, Marvig RL, Tommerup N, Olsen TE, Scheie D, Gupta R, Gerdes AM, Schmiegelow K, Wadt K.
PLoS Genet. 2020 Dec 17;16(12):e1009231. eCollection 2020 Dec.
The effect of diabetes and the common diabetogenic TBC1D4 p.Arg684Ter variant on cardiovascular risk in Inuit in Greenland.
Overvad M, Diaz LJ, Bjerregaard P, Pedersen ML, Larsen CVL, Senftleber N, Grarup N, Hansen T, Jørgensen ME.
Sci Rep. 2020 Dec 16;10(1):22081.