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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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.
More then 70 percent of a group of rare diseases called progressive myoclonus epilepsies (PMEs) can now be molecularly solved, write the authors in the abstract. The study used whole-exome sequencing in a systematic study of 84 people with PME. Among the findings, the researchers identified variants in known PME genes, variants in a pathway not previously implicated in PME, and a group of genes usually associated with developmental and epileptic encephalopathies.
Image credit: Courtesy AJHG
Biweekly List (Most Recent First)
Transcriptional networks in at-risk individuals identify signatures of type 1 diabetes progression.
Xhonneux LP, Knight O, Lernmark Å, Bonifacio E, Hagopian WA, Rewers MJ, She JX, Toppari J, Parikh H, Smith KGC, Ziegler AG, Akolkar B, Krischer JP, McKinney EF.
Sci Transl Med. 2021 Mar 31;13(587):eabd5666.
Predictive utilities of lipid traits, lipoprotein subfractions and other risk factors for incident diabetes: a machine learning approach in the Diabetes Prevention Program.
Varga TV, Liu J, Goldberg RB, Chen G, Dagogo-Jack S, Lorenzo C, Mather KJ, Pi-Sunyer X, Brunak S, Temprosa M; Diabetes Prevention Program Research Group.
BMJ Open Diabetes Res Care. 2021 Mar;9(1):e001953.
The genetic architecture of human complex phenotypes is modulated by linkage disequilibrium and heterozygosity.
Holland D, Frei O, Desikan R, Fan CC, Shadrin AA, Smeland OB, Andreassen OA, Dale AM.
Genetics. 2021 Mar 31;217(3):iyaa046.
The associations between red cell distribution width and plasma proteins in a general population.
Pan J, Borné Y, Orho-Melander M, Nilsson J, Melander O, Engström G.
Clin Proteomics. 2021 Mar 30;18(1):12.
Gallstone disease, diabetes, calcium, triglycerides, smoking and alcohol consumption and pancreatitis risk: Mendelian randomization study.
Yuan S, Giovannucci EL, Larsson SC.
NPJ Genom Med. 2021 Mar 29;6(1):27.
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
Traylor M, Persyn E, Tomppo L, Klasson S, Abedi V, Bakker MK, Torres N, Li L, Bell S, Rutten-Jacobs L, Tozer DJ, Griessenauer CJ, Zhang Y, Pedersen A, Sharma P, Jimenez-Conde J, Rundek T, Grewal RP, Lindgren A, Meschia JF, Salomaa V, Havulinna A, Kourkoulis C, Crawford K, Marini S, Mitchell BD, Kittner SJ, Rosand J, Dichgans M, Jern C, Strbian D, Fernandez-Cadenas I, Zand R, Ruigrok Y, Rost N, Lemmens R, Rothwell PM, Anderson CD, Wardlaw J, Lewis CM, Markus HS; Helsinki Stroke, Study Dutch Parelsnoer Institute-Cerebrovascular Accident (CVA) Study Group; National Institute of Neurological Disorders and Stroke (NINDS) Stroke Genetics Network; UK DNA Lacunar Stroke Study Investigators; International Stroke Genetics Consortium.
Lancet Neurol. 2021 Mar 25:S1474-4422(21)00031-4.
Interaction between the STAT4 rs11889341(T) risk allele and smoking confers increased risk of myocardial infarction and nephritis in patients with systemic lupus erythematosus.
Reid S, Hagberg N, Sandling JK, Alexsson A, Pucholt P, Sjöwall C, Lerang K, Jönsen A, Gunnarsson I, Syvänen AC, Troldborg AM, Voss A, Bengtsson AA, Molberg Ø, Jacobsen S, Svenungsson E, Rönnblom L, Leonard D.
Ann Rheum Dis. 2021 Mar 25:annrheumdis-2020-219727.
Methodological considerations for identifying multiple plasma proteins associated with all-cause mortality in a population-based prospective cohort.
Drake I, Hindy G, Almgren P, Engström G, Nilsson J, Melander O, Orho-Melander M.
Sci Rep. 2021 Mar 24;11(1):6734.
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.
Sønderby IE, van der Meer D, Moreau C, Kaufmann T, Walters GB, Ellegaard M, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn NB, Blangero J, Boomsma DI, Brodaty H, Brouwer RM, Bülow R, Bøen R, Cahn W, Calhoun VD, Caspers S, Ching CRK, Cichon S, Ciufolini S, Crespo-Facorro B, Curran JE, Dale AM, Dalvie S, Dazzan P, de Geus EJC, de Zubicaray GI, de Zwarte SMC, Desrivieres S, Doherty JL, Donohoe G, Draganski B, Ehrlich S, Eising E, Espeseth T, Fejgin K, Fisher SE, Fladby T, Frei O, Frouin V, Fukunaga M, Gareau T, Ge T, Glahn DC, Grabe HJ, Groenewold NA, Gústafsson Ó, Haavik J, Haberg AK, Hall J, Hashimoto R, Hehir-Kwa JY, Hibar DP, Hillegers MHJ, Hoffmann P, Holleran L, Holmes AJ, Homuth G, Hottenga JJ, Hulshoff Pol HE, Ikeda M, Jahanshad N, Jockwitz C, Johansson S, Jönsson EG, Jørgensen NR, Kikuchi M, Knowles EEM, Kumar K, Le Hellard S, Leu C, Linden DEJ, Liu J, Lundervold A, Lundervold AJ, Maillard AM, Martin NG, Martin-Brevet S, Mather KA, Mathias SR, McMahon KL, McRae AF, Medland SE, Meyer-Lindenberg A, Moberget T, Modenato C, Sánchez JM, Morris DW, Mühleisen TW, Murray RM, Nielsen J, Nordvik JE, Nyberg L, Loohuis LMO, Ophoff RA, Owen MJ, Paus T, Pausova Z, Peralta JM, Pike GB, Prieto C, Quinlan EB, Reinbold CS, Marques TR, Rucker JJH, Sachdev PS, Sando SB, Schofield PR, Schork AJ, Schumann G, Shin J, Shumskaya E, Silva AI, Sisodiya SM, Steen VM, Stein DJ, Strike LT, Suzuki IK, Tamnes CK, Teumer A, Thalamuthu A, Tordesillas-Gutiérrez D, Uhlmann A, Ulfarsson MO, van 't Ent D, van den Bree MBM, Vanderhaeghen P, Vassos E, Wen W, Wittfeld K, Wright MJ, Agartz I, Djurovic S, Westlye LT, Stefansson H, Stefansson K, Jacquemont S, Thompson PM, Andreassen OA; ENIGMA-CNV working group.
Transl Psychiatry. 2021 Mar 22;11(1):182.
Common genetic polymorphisms contribute to the association between chronic lymphocytic leukaemia and non-melanoma skin cancer.
Besson C, Moore A, Wu W, Vajdic CM, de Sanjose S, Camp NJ, Smedby KE, Shanafelt TD, Morton LM, Brewer JD, Zablotska L, Engels EA, Cerhan JR, Slager SL, Han J, Berndt SI.
Int J Epidemiol. 2021 Mar 22:dyab042.
Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study.
Tsilidis KK, Papadimitriou N, Dimou N, Gill D, Lewis SJ, Martin RM, Murphy N, Markozannes G, Zuber V, Cross AJ, Burrows K, Lopez DS, Key TJ, Travis RC, Perez-Cornago A, Hunter DJ, van Duijnhoven FJB, Albanes D, Arndt V, Berndt SI, Bézieau S, Bishop DT, Boehm J, Brenner H, Burnett-Hartman A, Campbell PT, Casey G, Castellví-Bel S, Chan AT, Chang-Claude J, de la Chapelle A, Figueiredo JC, Gallinger SJ, Giles GG, Goodman PJ, Gsur A, Hampe J, Hampel H, Hoffmeister M, Jenkins MA, Keku TO, Kweon SS, Larsson SC, Le Marchand L, Li CI, Li L, Lindblom A, Martín V, Milne RL, Moreno V, Nan H, Nassir R, Newcomb PA, Offit K, Pharoah PDP, Platz EA, Potter JD, Qi L, Rennert G, Sakoda LC, Schafmayer C, Slattery ML, Snetselaar L, Schenk J, Thibodeau SN, Ulrich CM, Van Guelpen B, Harlid S, Visvanathan K, Vodickova L, Wang H, White E, Wolk A, Woods MO, Wu AH, Zheng W, Bueno-de-Mesquita B, Boutron-Ruault MC, Hughes DJ, Jakszyn P, Kühn T, Palli D, Riboli E, Giovannucci EL, Banbury BL, Gruber SB, Peters U, Gunter MJ.
Am J Clin Nutr. 2021 Mar 19:nqab003.
EXPRESS: International Stroke Genetics Consortium Recommendations for Studies of Genetics of Stroke Outcome and Recovery.
Lindgren A, Braun R, Majersik JJ, Clatworthy P, Mainali S, Derdeyn CP, Maguire JM, Jern C, Rosand J, Cole JW, Lee JM, Khatri P, Nyquist PA, Debette SP, Keat Wei L, Rundek T, Leifer D, Thijs V, Lemmens R, Heitsch L, Prasad K, Jimenez-Conde J, Dichgans M, Rost NS, Cramer SC, Bernhardt J, Worrall BB, Cadenas I.
Int J Stroke. 2021 Mar 19:17474930211007288.
Symptom clusters in COVID-19: A potential clinical prediction tool from the COVID Symptom Study app.
Sudre CH, Lee KA, Lochlainn MN, Varsavsky T, Murray B, Graham MS, Menni C, Modat M, Bowyer RCE, Nguyen LH, Drew DA, Joshi AD, Ma W, Guo CG, Lo CH, Ganesh S, Buwe A, Pujol JC, du Cadet JL, Visconti A, Freidin MB, El-Sayed Moustafa JS, Falchi M, Davies R, Gomez MF, Fall T, Cardoso MJ, Wolf J, Franks PW, Chan AT, Spector TD, Steves CJ, Ourselin S.
Sci Adv. 2021 Mar 19;7(12):eabd4177.
Combined lifestyle factors and the risk of LADA and type 2 diabetes - Results from a Swedish population-based case-control study.
Herzog K, Ahlqvist E, Alfredsson L, Groop L, Hjort R, Löfvenborg JE, Tuomi T, Carlsson S.
Diabetes Res Clin Pract. 2021 Mar 17;174:108760.
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Seppälä TT, Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vida JB, Kariv R, Rosner G, Piñero TA, Pavicic W, Kalfayan P, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Büttner R, Görgens H, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Redler S, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Hopper JL, Win AK, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Wadt KAW, Mourits MJE, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Rokkones E, Sampson JR, Evans DG, Møller P.
Eur J Cancer. 2021 Mar 17;148:124-133.
A potent and selective Kallikrein-5 inhibitor delivers high pharmacological activity in Netherton Syndrome patient skin.
Liddle J, Beneton V, Benson M, Bingham R, Bouillot A, Boullay AB, Brook E, Cryan J, Denis A, Edgar E, Ferrie A, Fouchet MH, Grillot D, Holmes DS, Howes A, Krysa G, Laroze A, Lennon M, McClure F, Moquette A, Nicodeme E, Santiago B, Santos L, Smith KJ, Thorpe JH, Thripp G, Trottet L, Walker AL, Ward SA, Wang Y, Wilson S, Pearce AC, Hovnanian A.
J Invest Dermatol. 2021 Mar 17:S0022-202X(21)00994-5.
Pneumonia in infancy and risk for asthma - the role of familial confounding and pneumococcal vaccination.
Rhedin S, Lundholm C, Osvald EC, Almqvist C.
Chest. 2021 Mar 13:S0012-3692(21)00480-3.
Selection into shift work is influenced by educational attainment and body mass index: a Mendelian randomization study in the UK Biobank.
Daghlas I, Richmond RC, Lane JM, Dashti HS, Ollila HM, Schernhammer ES, Smith GD, Rutter MK, Saxena R, Vetter C.
Int J Epidemiol. 2021 Mar 13:dyab031.
Genetic liability to insomnia in relation to cardiovascular diseases: a Mendelian randomisation study.
Yuan S, Mason AM, Burgess S, Larsson SC.
Eur J Epidemiol. 2021 Mar 12.
Association of genetically predicted serum estradiol with risk of thromboembolism in men: A mendelian randomization study.
Nethander M, Quester J, Vandenput L, Ohlsson C.
J Clin Endocrinol Metab. 2021 Mar 11:dgab164.
DRB1-environment interactions in multiple sclerosis etiology: results from two Swedish case-control studies.
Hedström AK, Hillert J, Brenner N, Butt J, Waterboer T, Strid P, Kockum I, Olsson T, Alfredsson L.
J Neurol Neurosurg Psychiatry. 2021 Mar 9:jnnp-2020-325676. doi: 10.1136/jnnp-2020-325676.
Sleep duration is associated with protein biomarkers for cardiometabolic health: A large-scale population study.
Theorell-Haglöw J, Hammar U, Lind L, Elmståhl S, Lindberg E, Fall T.
J Sleep Res. 2021 Mar 9:e13284.
Activation of nuclear receptor PXR induces atherogenic lipids and PCSK9 through SREBP2-mediated mechanism.
Karpale M, Käräjämäki AJ, Kummu O, Gylling H, Hyötyläinen T, Orešič M, Tolonen A, Hautajärvi H, Savolainen MJ, Ala-Korpela M, Hukkanen J, Hakkola J.
Br J Pharmacol. 2021 Mar 9.
Genetically proxied growth-differentiation factor 15 levels and body mass index.
Karhunen V, Larsson SC, Gill D.
Br J Clin Pharmacol. 2021 Mar 9.
Plasma Protein Profile of Carotid Artery Atherosclerosis and Atherosclerotic Outcomes: Meta-Analyses and Mendelian Randomization Analyses.
Lind L, Gigante B, Borné Y, Feldreich T, Leppert J, Hedberg P, Östgren CJ, Nyström FH, Sundström J, Ärnlöv J, Baldassarre D, Tremoli E, Veglia F, Hamsten A, O'Donnell CJ, Franceschini N, Orho-Melander M, Nilsson J, Melander O, Engström G, Mälarstig A.
Arterioscler Thromb Vasc Biol. 2021 Mar 4:ATVBAHA120315597.
Genetically Raised Circulating Bilirubin Levels and Risk of Ten Cancers: A Mendelian Randomization Study.
Seyed Khoei N, Carreras-Torres R, Murphy N, Gunter MJ, Brennan P, Smith-Byrne K, Mariosa D, Mckay J, O'Mara TA, Jarrett R, Hjalgrim H, Smedby KE, Cozen W, Onel K, Diepstra A, Wagner KH, Freisling H.
Cells. 2021 Feb 15;10(2):394.
Opportunities and Challenges in Functional Genomics Research in Osteoporosis: Report From a Workshop Held by the Causes Working Group of the Osteoporosis and Bone Research Academy of the Royal Osteoporosis Society on October 5th 2020.
Tobias JH, Duncan EL, Kague E, Hammond CL, Gregson CL, Bassett D, Williams GR, Min JL, Gaunt TR, Karasik D, Ohlsson C, Rivadeneira F, Edwards JR, Hannan FM, Kemp JP, Gilbert SJ, Alonso N, Hassan N, Compston JE, Ralston SH.
Front Endocrinol (Lausanne). 2021 Feb 15;11:630875.