Publications

Take a closer look at selected publications from research projects using THL Biobank's samples and data.

2024

Serum ferritin level is associated with liver fibrosis and incident liver-related outcomes independent of HFE genotype in the general population.
Männistö, V. T., Hakkarainen, K., Jula, A., Lundqvist, A., Vihervaara, T., Erlund, I., & Åberg, F. Scandinavian Journal of Gastroenterology (2024), 59(5), 592- 599. 

Donor genetic determinant of thymopoiesis, rs2204985, and stem cell transplantation outcome in a multipopulation cohort.
Nihtilä J, Salmenniemi U, Itälä-Remes M, Crossland RE, Gallardo D, Bogunia-Kubik K, Łacina P, Bieniaszewska M, Giebel S, Hyvärinen K, Kekäläinen E, Ritari J, Partanen J. Hum Immunol. (2024), 85(3):110791.  PMID: 38553383.

Moderate associations between the use of levonorgestrel-releasing intrauterine device and metabolomics profile. Toffol E, Heikinheimo O, Jousilahti P, Lehtoranta L, Joensuu A, Partonen T, Erlund I, Haukka J. J Clin Endocrinol Metab. (2024), 8:dgae318. PMID: 38717898. doi: 10.1210/clinem/dgae318

Whole-exome and whole-genome sequencing of 1064 individuals with type 1 diabetes reveals novel genes for diabetic kidney disease.
Haukka JK, Antikainen AA, Valo E, Syreeni A, Dahlström EH, Lin BM, Franceschini N,Krolewski AS, Harjutsalo V, Groop PH, Sandholm N; FinnDiane Study Group. Diabetologia (2024), Aug 6. Epub ahead of print. PMID: 39103720. doi: 10.1007/s00125-024-06241-1.

Socio-economic differences in body mass index: the contribution of genetic factors. 
Silventoinen, K., Lahtinen, H., Kilpi, F. et al. 
Int J Obes. (2024). doi: 10.1038/s41366-024-01459-w. Published 10 January 2024

2023

Combined use of the ELF test and CLivD score improves prediction of liver-related outcomes in the general population.
Åberg F, Saarinen K, Jula A, Lundqvist A, Vihervaara T, Erlund I, Färkkilä M. Liver Int. (2023), 43(10):2107-2115.  PMID: 37485795.

The PNPLA3 I148M variant increases ketogenesis and decreases hepatic de novo lipogenesis and mitochondrial function in humans.
Luukkonen PK, Porthan K, Ahlholm N, Rosqvist F, Dufour S, Zhang XM, Lehtimäki TE, Seppänen W, Orho-Melander M, Hodson L, Petersen KF, Shulman GI, Yki-Järvinen H. Cell Metab. (2023),  35(11):1887-1896.e5. PMID: 37909034.

Polygenic Prediction of Education and Its Role in the Intergenerational Transmission of Education: Cohort Changes Among Finnish Men and Women Born in 1925–1989
Hannu Lahtinen, Kaarina Korhonen, Pekka Martikainen, and Tim Morris. Demography (2023) 60(5):1523–1547. doi: 10.1215/00703370-10963788

Long-term exposure to traffic noise and risk of incident colon cancer: A pooled study of eleven Nordic cohorts
Roswall N, Thacher JD, Ögren M, et al., Environ Res. (2023), 224:115454.
doi: 10.1016/j.envres.2023.115454.

Enhanced liver Fibrosis® test predicts liver-related outcomes in the general population
Saarinen K, Färkkilä M, Jula A, Erlund I, Vihervaara T, Lundqvist A, Åberg F. JHEP Rep. (2023),5(7):100765. doi: 10.1016/j.jhepr.2023.100765. 

Waist-hip ratio is superior to BMI in predicting liver-related outcomes and synergizes with harmful alcohol use.
Åberg F, Färkkilä M, Salomaa V, Jula A, Männistö S, Perola M, Lundqvist A, Männistö V. Commun Med (Lond). (2023),3(1):119. doi: 10.1038/s43856-023-00353-2.

Hyperhomocysteinemia predicts liver-related clinical outcomes in the general population
Åberg F, Jula A, Lundqvist A, Männistö V.  J Hepatol. (2023), 78(5):e172-e174. doi: 10.1016/j.jhep.2022.11.021.

CYP3A4*22 may increase bleeding risk in ticagrelor users
Liedes H, Pajula J, Vuorinen AL, De Pretis F, van Gils M, Harno K, Lehto M, Niemi M, Lähteenmäki J. Basic Clin Pharmacol Toxicol. (2023) 133(2):202-207. doi: 10.1111/bcpt.13884. PMID: 37162098.

Persistent organic pollutants associate with liver disease in a Finnish general population sample
Hakkarainen K, Rantakokko P, Koponen J, Ruokojärvi P, Korkalainen M, Salomaa V, Jula A, Männistö S, Perola M, Lundqvist A, Männistö V, Åberg F.
Liver Int. (2023),  Jun 13. doi: 10.1111/liv.15645. Epub ahead of print. PMID: 37312647.

Exposure to long-term source-specific transportation noise and incident breast cancer: A pooled study of eight Nordic cohorts
Thacher JD, Oudin A, Flanagan E, et al. Environ Int. (2023), 178:108108. doi: 10.1016/j.envint.2023.108108. PMID: 37490787.

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive
pulmonary disease risk
Shrine N. et al   Nat Genet. (2023), 55(3):410-422. PMID: 36914875; PMCID: PMC10011137.

Identification of complement factor H variants that predispose to pre-eclampsia: A genetic and functional study
Lokki AI, Ren Z, Triebwasser M, Daly E; FINNPEC; Perola M, Auro K, Burwick R, Salmon JE, Daly M, Laivuori H, Atkinson JP, Java A, Meri S.
BJOG. (2023), May 8. Epub ahead of print. PMID: 37156755.

Association between genetic risk of alcohol consumption and alcohol-related morbidity and mortality under different alcohol policy conditions: 
Evidence from the Finnish alcohol price reduction of 2004
Lahtinen H, Moustgaard H, Ripatti S, Martikainen P. Addiction (2023), 118(4):678-685. . PMID: 36564914.

Height, social position and coronary heart disease incidence: the contribution of genetic and environmental factors
Silventoinen K, Lahtinen H, Davey Smith G, Morris TT, Martikainen P. J Epidemiol Community Health. (2023), 77(6):384-390. PMID: 36963814

Atlas of plasma NMR biomarkers for health and disease in 118,461 individuals from the UK Biobank
Heli Julkunen, Anna Cichońska, Mika Tiainen, Harri Koskela, Kristian Nybo, Valtteri Mäkelä, Jussi Nokso-Koivisto, Kati Kristiansson, Markus Perola, Veikko Salomaa, Pekka Jousilahti, Annamari Lundqvist, Antti J. Kangas, Pasi Soininen, Jeffrey C. Barrett & Peter Würtz. Nat Commun. (2023) 14:604.

Orchestra musicians' work environment and health versus that of a general workforce.
Vastamäki M, Heliövaara M, Vastamäki H, Ristolainen L. J Occup Environ Med. (2022) doi: 10.1097/JOM.0000000000002763. Epub ahead of print. PMID: 36730011

Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure
Rämö JT, Kiiskinen T, Seist R, Krebs K, Kanai M, Karjalainen J, Kurki M, Hämäläinen E, Häppölä P, Havulinna AS, Hautakangas H; FinnGen; Mägi R, Palta P, Esko T, Metspalu A, Pirinen M, Karczewski KJ, Ripatti S, Milani L, Stankovic KM, Mäkitie A, Daly MJ, Palotie A. Nat Commun. (2023), 14(1):157.PMID: 36653343; PMCID: PMC9849444.

Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation
Saarentaus EC, Karjalainen J, Rämö JT, Kiiskinen T, Havulinna AS, Mehtonen J, Hautakangas H, Ruotsalainen S, Tamlander M, Mars N; FINNGEN; Toppila-Salmi S, Pirinen M, Kurki M, Ripatti S, Daly M, Palotie T, Mäkitie A, Palotie A.
Nat Commun. (2023), 14(1):83. PMID: 36653354; PMCID: PMC9849224.

FinnGen: Unique genetic insights from combining isolated population and national health register data
Kurki MI, Karjalainen J, Palta P, et al. FINNGEN. Nature.(2023), 613(7944):508-518. 

Genetic predictors of lifelong medication-use patterns in cardiometabolic diseases
Kiiskinen T, Helkkula P, Krebs K, Karjalainen J, Saarentaus E, Mars N, Lehisto A, Zhou W, Cordioli M, Jukarainen S, Rämö JT, Mehtonen J, Veerapen K, Räsänen M, Ruotsalainen S, Maasha M; FinnGen; Niiranen T, Tuomi T, Salomaa V, Kurki M, Pirinen M, Palotie A, Daly M, Ganna A, Havulinna AS, Milani L, Ripatti S.
Nat Med.(2023), 29(1):209-218. PMID: 36653479; PMCID: PMC9873570.

Mono- and biallelic variant effects on disease at biobank scale
Heyne HO, Karjalainen J, Karczewski KJ, Lemmelä SM, Zhou W; FinnGen; Havulinna AS, Kurki M, Rehm HL, Palotie A, Daly MJ.
Nature (2023),613(7944):519-525. PMID: 36653560; PMCID: PMC9849130.

The association between body mass index groups and metabolic comorbidities with healthcare and medication costs: a nationwide biobank and registry study in Finland 
Vesikansa A, Mehtälä J, Mutanen K, Lundqvist A, Laatikainen T, Ylisaukko-oja T, Saukkonen T & Pietiläinen KH. Journal of Market Access & Health Policy, (2023)11:1.

2022

Portability of Polygenic Risk Scores for Sleep Duration, Insomnia and Chronotype in 33,493 Individuals 
Perkiö A, Merikanto I, Kantojärvi K, Paunio T, Sinnott-Armstrong N, Jones SE, Ollila HM.
Clocks Sleep. (2022), 5(1):10-20. doi: 10.3390/clockssleep5010002. PMID: 36648941; PMCID: PMC9844282.

Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis 
Ruotsalainen, S.E., Surakka, I., Mars, N. et al.
Commun Biol. (2022), 5: 802. doi: 10.1038/s42003-022-03552-0

Mismatches in Gene Deletions and Kidney-related Proteins as Candidates for Histocompatibility Factors in Kidney Transplantation
Salla Markkinen, Ilkka Helanterä, Jouni Lauronen, Marko Lempinen, Jukka Partanen, Kati Hyvärinen
Kidney International Reports (2022), 7(11): 2484-2494. doi.org/10.1016/j.ekir.2022.08.032.

Postprandial metabolism of apolipoproteins B48, B100, C-III, and E in humans with APOC3 loss-of-function mutations
Taskinen MR, Björnson E, Matikainen N, Söderlund S, Rämö J, Ainola MM, Hakkarainen A, Sihlbom C, Thorsell A, Andersson L, Bergh PO, Henricsson M, Romeo S, Adiels M, Ripatti S, Laakso M, Packard CJ, Borén J. JCI Insight. (2022) 7(19):e160607. PMID: 36040803; PMCID: PMC9675484.

The impact of Mendelian sleep and circadian genetic variants in a population setting
Weedon MN, Jones SE, Lane JM, Lee J, Ollila HM, Dawes A, Tyrrell J, Beaumont RN, Partonen T, Merikanto I, Rich SS, Rotter JI, Frayling TM, Rutter MK, Redline S, Sofer T, Saxena R, Wood AR. PLoS Genet. (2022) 18(9):e1010356. PMID: 36137075; PMCID: PMC9499244.

Methylation status of VTRNA2-1/nc886 is stable across populations, monozygotic twin pairs and in majority of tissues
Marttila S, Tamminen H, Rajić S, Mishra PP, Lehtimäki T, Raitakari O, Kähönen M, Kananen L, Jylhävä J, Hägg S, Delerue T, Peters A, Waldenberger M, Kleber ME, März W, Luoto R, Raitanen J, Sillanpää E, Laakkonen EK, Heikkinen A, Ollikainen M, Raitoharju E.  Epigenomics. (2022) 18:1105-1124. PMID: 36200237.

Comparison of various strategies to define the optimal target population for liver fibrosis screening: A population-based cohort study
Åberg F, Jula A, Färkkilä M, Salomaa V, Erlund I, Männistö S, Vihervaara T, Perola M, Lundqvist A, Männistö V. United European Gastroenterol J. (2022) Nov 1. Epub ahead of print. PMID: 36318497.

Association between arterial hypertension and liver outcomes using polygenic risk scores: a population-based study 
Åberg F, Kantojärvi K, Männistö V, But A, Salomaa V, Niiranen T, Färkkilä M, Luukkonen P, Männistö S, Lundqvist A, Perola M, Jula A.  Sci Rep. (2022), 12(1):15581. PMID: 36114231.

Obesity and metabolic state are associated with increased healthcare resource and medication use and costs: a Finnish population-based study
Vesikansa A, Mehtälä J, Mutanen K, Lundqvist A, Laatikainen T, Ylisaukko-Oja T, Saukkonen T, Pietiläinen KH.  Eur J Health Econ. (2022) Sep 5.
Epub ahead of print. PMID: 36063259.

Metabolomics profile of 5649 users and non-users of hormonal intrauterine devices in Finland
Toffol E, Heikinheimo O, Jousilahti P, But A, Joensuu A, Latvala A, Partonen T, Erlund I, Haukka J. Am J Obstet Gynecol.(2022),227(4):603.e1-603.e29.  Epub ahead of print. PMID: 35697093.

Attribution of diabetes to the development of severe liver disease in the general population
Miika Vuorinen, Ville T. Männistö, Veikko Salomaa, Annie Britton, Antti Jula, Satu Männistö, Annamari Lundqvist, Markus Perola, Fredrik Åberg.  Liver Int. (2022), 42(10):2186-2194. PMID: 35574998.

Multiparametric platform for profiling lipid trafficking in human leukocytes
Pfisterer SG, Brock I, Kanerva K, Hlushchenko I, Paavolainen L, Ripatti P, Islam MM, Kyttälä A, Di Taranto MD, Scotto di Frega A, Fortunato G, Kuusisto J, Horvath P, Ripatti S, Laakso M, Ikonen E. Cell Rep Methods (2022) Feb 8;2(2):100166. PMID: 35474963; PMCID: PMC9017167.

Development and validation of a model to predict incident chronic liver disease in the general population: The CLivD score
Åberg F, Luukkonen PK, But A, Salomaa V, Britton A, Petersen KM, Bojesen SE, Balling M, Nordestgaard BG, Puukka P, Männistö S, Lundqvist A, Perola M, Jula A, Färkkilä M. J Hepatol. (2022), 77(2):302-311. PMID: 35271949.

CRISPR activation enables high-fidelity reprogramming into human pluripotent stem cells.
Sokka J, Yoshihara M, Kvist J, Laiho L, Warren A, Stadelmann C, Jouhilahti EM, Kilpinen H, Balboa D, Katayama S, Kyttälä A, Kere J, Otonkoski T, Weltner J, Trokovic R. Stem Cell Reports (2022), 17(2):413-426. PMID: 35063129.

Effects of PNPLA3 I148M on hepatic lipid and very-low-density lipoprotein metabolism in humans.
Borén J, Adiels M, Björnson E, Matikainen N, Söderlund S, Rämö J, Henricsson M, Ripatti P, Ripatti S, Palotie A, Mancina RM, Ainola M, Hakkarainen A, Romeo S, Packard CJ, Taskinen MR. J Intern Med. (2022), 291(2):218-223. PMID: 34411351.

The association of body mass index with quality of life and working ability: a Finnish population-based study
Vesikansa A, Mehtälä J, Jokelainen J, Mutanen K, Lundqvist A, Laatikainen T, Ylisaukko-oja T, Saukkonen T,  Pietiläinen K. Qual Life Res (2022), 31(2):413-423.PMID: 34533758.

Integrating data from multiple Finnish biobanks and national health-care registers for retrospective studies: Practical experiences
Lähteenmäki J, Vuorinen A-L, Pajula J, Harno K, Lehto M, Niemi M, van Gils M. Scand J Public Health (2022), 50(4):482-489. PMID: 33845693.

2021

Pharmacogenetics of Bleeding and Thromboembolic Events in Direct Oral Anticoagulant Users 
Lähteenmäki J, Vuorinen AL, Pajula J, Harno K, Lehto M, Niemi M, van Gils M. 
Clin Pharmacol Ther. (2021), 110(3):768-776. doi: 10.1002/cpt.2316. PMID: 34043814.

Widespread circulation of pertussis in Finland during 1968-1972 when the whole cell vaccine was in use
Ahvenainen N, Dub T, Knuutila A, Barkoff AM, Sane J, He Q. Clin Microbiol Infect. (2021), 27(10):1526-1528. PMID: 34153458.

Risk prediction of atrial fibrillation in the community combining biomarkers and genetics
Börschel CS, Ohlrogge AH, Geelhoed B, Niiranen T, Havulinna AS, Palosaari T, Jousilahti P, Rienstra M, van der Harst P, Blankenberg S, Zeller T, Salomaa V, Schnabel RB. Europace. (2021), 23(5):674-681. PMID: 33458771; PMCID: PMC8139818.

Waist and hip circumference are independently associated with the risk of liver disease in population-based studies 
Danielsson O, Nissinen MJ, Jula A, Salomaa V, Männistö S, Lundqvist A, Perola M, Åberg F. Liver Int. (2021), 41(12):2903-2913. PMID: 34510711.

Low serum vitamin D level associated with incident advanced liver disease in the general population – a prospective study
Ville Männistö, Tuija Jääskeläinen, Martti Färkkilä, Antti Jula, Satu Männistö, Annamari Lundqvist, Tanja Zeller, Stefan Blankenberg, Veikko Salomaa, Markus Perola & Fredrik Åberg  Scandinavian Journal of Gastroenterology (2021), 56(3): 299-303. PMID: 33478287.

The Pi∗MZ Allele in Alpha-1 Antitrypsin Increases Liver-Related Outcomes in a Population-Based Study 
Luukkonen PK, Salomaa V, Åberg F. Gastroenterology (2021), 160(5):1874-1875. PMID: 33385428.

Metabolic Biomarker Discovery for Risk of Peripheral Artery Disease Compared With Coronary Artery Disease: Lipoprotein and Metabolite Profiling of 31 657 Individuals From 5 Prospective Cohorts
Tikkanen E, Jägerroos V, Holmes MV, Sattar N, Ala-Korpela M, Jousilahti P, Lundqvist A, Perola M, Salomaa V, Würtz P. J Am Heart Assoc. (2021), 10(23):e021995. PMID: 34845932.

Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder
Laine P, Rowell WJ, Paulin L, Kujawa S, Raterman D, Mayhew G, Wendt J, Burgess DL, Partonen T, Paunio T, Auvinen P, Ekholm JM. PLoS One (2021), 16(12):e0261170. PMID: 34914762; PMCID: PMC8675739.

Screening of unruptured intracranial aneurysms in 50 to 60-year-old female smokers: a pilot study.
Huhtakangas J, Numminen J, Pekkola J, Niemelä M, Korja M. Sci Rep. (2021), 11(1):23729. PMID: 34887429.

Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences 
Liron Ganel, Lei Chen, Ryan Christ, Jagadish Vangipurapu, Erica Young, Indraniel Das, Krishna Kanchi, David Larson, Allison Regier, Haley Abel, Chul Joo Kang, Alexandra Scott, Aki Havulinna, Charleston W. K. Chiang, Susan Service, Nelson Freimer, Aarno Palotie, Samuli Ripatti, Johanna Kuusisto, Michael Boehnke, Markku Laakso, Adam Locke, Nathan O. Stitziel & Ira M. Hall. Hum Genomics (2021), 15(1): 34. PMID: 34099068.

Dysfunction of complement receptors CR3 (CD11b/18) and CR4 (CD11c/18) in pre-eclampsia: a genetic and functional study
Lokki AI, Teirilä L, Triebwasser M, Daly E, Bhattacharjee A, Uotila L, Llort Asens M, Kurki MI, Perola M, Auro K, Salmon JE, Daly M, Atkinson JP, Laivuori H, Fagerholm S, Meri S; Finnpec. BJOG. (2021), 128(8):1282-1291. PMID: 33539617; PMCID: PMC8255276.

Incidence of liver-related morbidity and mortality in a population cohort of non-alcoholic fatty liver disease
Ville T. Männistö, Veikko Salomaa, Martti Färkkilä, Antti Jula, Satu Männistö, Iris Erlund, Jouko Sundvall, Annamari Lundqvist, Markus Perola, Fredrik Åberg. Liver Int. (2021), 41(11):2590-2600. PMID: 34219352.

A Dynamic Aspartate-to-Alanine Aminotransferase Ratio Provides Valid Predictions of Incident Severe Liver Disease
Åberg F, Danford CJ, Thiele M, Talbäck M, Rasmussen DN, Jiang ZG, Hammar N, Nasr P, Ekstedt M, But A, Puukka P, Krag A, Sundvall J, Erlund I, Salomaa V, Stål P, Kechagias S, Hultcrantz R, Lai M, Afdhal N, Jula A, Männistö S, Lundqvist A, Perola M, Färkkilä M, Hagström H. Hepatol Commun. (2021), 5(6):1021-1035. PMID: 34141987; PMCID: PMC8183175.

Gallstones, Body Mass Index, C-Reactive Protein, and Gallbladder Cancer: Mendelian Randomization Analysis of Chilean and European Genotype Data
Barahona Ponce C, Scherer D, Brinster R, Boekstegers F, Marcelain K, Gárate-Calderón V, Müller B, de Toro G, Retamales J, Barajas O, Ahumada M, Morales E, Rojas A, Sanhueza V, Loader D, Rivera MT, Gutiérrez L, Bernal G, Ortega A, Montalvo D, Portiño S, Bertrán ME, Gabler F, Spencer L, Olloquequi J, Fischer C, Jenab M, Aleksandrova K, Katzke V, Weiderpass E, Bonet C, Moradi T, Fischer K, Bossers W, Brenner H, Hveem K, Eklund N, Völker U, Waldenberger M, Fuentes Guajardo M, Gonzalez-Jose R, Bedoya G, Bortolini MC, Canizales-Quinteros S, Gallo C, Ruiz-Linares A, Rothhammer F, Lorenzo Bermejo J. Hepatology (2021), 73(5):1783-1796. PMID: 32893372.

Pharmacogenetics of Anticoagulation and Clinical Events in Warfarin-Treated Patients: A Register-Based Cohort Study with Biobank Data and National Health Registries in Finland
Vuorinen AL, Lehto M, Niemi M, Harno K, Pajula J, van Gils M, Lähteenmäki J. Clin Epidemiol. (2021), 13:183-195. PMID: 33727862. 

Association of Structural Variation with Cardiometabolic Traits in Finns
Lei Chen, Haley J. Abel, Indraniel Das, David E. Larson, Liron Ganel, Krishna L. Kanchi, Allison A. Regier, Erica P. Young, Chul Joo Kang, Xinxin Wang, Shuangjia Lu, Ryan Christ, Susan K. Service, Charleston W.K. Chiang, Aki S. Havulinna, Johanna Kuusisto, Michael Boehnke, Markku Laakso, Aarno Palotie, Samuli Ripatti, Nelson B. Freimer, Adam E. Locke, Nathan O. Stitziel, Ira M. Hall. Am J Hum Genet. (2021), 108(4):583-596. PMID: 33798444.

Changes in the fine-scale genetic structure of Finland through the 20th century
Sini Kerminen, Nicola Cerioli,, Darius Pacauskas, Aki S. Havulinna,Markus Perola,Pekka Jousilahti, Veikko Salomaa,Mark J. Daly, Rupesh Vyas, Samuli Ripatti,Matti Pirinen PLOS Genetics (2021)  17(3):e1009347. PMID: 33661898.

Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants
Saarentaus E.C., Havulinna A.S., Mars N., Ahola-Olli A., Kiiskinen T.T.J., Partanen J., Ruotsalainen S., Kurki M., Urpa L.M., Chen L., Perola M., Salomaa V., Veijola J., Männikkö M., Hall I.M., Pietiläinen O., Kaprio J., Ripatti S., Daly M. & Palotie A. Mol Psychiatry (2021), 26(9):4884-4895. PMID: 33526825.

Genetic Risk Score for Serum 25-Hydroxyvitamin D Concentration Helps to Guide Personalized Vitamin D Supplementation in Healthy Finnish Adults
Riitta J Sallinen, Olga Dethlefsen, Sanni Ruotsalainen, Robert D Mills, Timo A Miettinen, Tuija E Jääskeläinen, Annamari Lundqvist, Eero Kyllönen, Heikki Kröger, Jaro I Karppinen, Christel Lamberg-Allardt, Heli Viljakainen, Mari A Kaunisto, Olli Kallioniemi, on behalf of the Digital Health Revolution Project The Journal of Nutrition (2021), 151(2): 281–292. PMID: 33382404.

2020

Genomic prediction of alcohol-related morbidity and mortality
Tuomo Kiiskinen, Nina J. Mars, Teemu Palviainen, Jukka Koskela, Joel T. Rämö, Pietari Ripatti, Sanni Ruotsalainen, FinnGen, GSCAN Consortium, Aarno Palotie, Pamela A. F. Madden, Richard J. Rose, Jaakko Kaprio, Veikko Salomaa, Pia Mäkelä, Aki S. Havulinna & Samuli Ripatti. Transl Psychiatry 10, 23 (2020).

Assessment of causality of natriuretic peptides and atrial fibrillation and heart failure: a Mendelian randomization study in the FINRISK cohort
Geelhoed B, Börschel CS, Niiranen T, Palosaari T, Havulinna AS, Fouodo CJK, Scheinhardt MO, Blankenberg S, Jousilahti P, Kuulasmaa K, Zeller T, Salomaa V, Schnabel RB. Europace. 2020 Oct 1;22(10):1463-1469. PMID: 32830215; PMCID: PMC7544535.

Polygenic Hyperlipidemias and Coronary Artery Disease Risk
Ripatti P, Rämö JT, Mars NJ, Fu Y, Lin J, Söderlund S, Benner C, Surakka I, Kiiskinen T, Havulinna AS, Palta P, Freimer NB, Widén E, Salomaa V, Tukiainen T, Pirinen M, Palotie A, Taskinen MR, Ripatti S; FinnGen†. Circ Genom Precis Med. 2020 Apr;13(2):e002725. Epub 2020 Mar 10. PMID: 32154731; PMCID: PMC7176338.

ABCB1/4 gallbladder cancer risk variants identified in India also show strong effects in Chileans
Boekstegers F, Marcelain K, Barahona Ponce C, Baez Benavides PF, Müller B, de Toro G, Retamales J, Barajas O, Ahumada M, Morales E, Rojas A, Sanhueza V, Loader D, Rivera MT, Gutiérrez L, Bernal G, Ortega A, Montalvo D, Portiño S, Bertrán ME, Gabler F, Spencer L, Olloquequi J, González Silos R, Fischer C, Scherer D, Jenab M, Aleksandrova K, Katzke V, Weiderpass E, Moradi T, Fischer K, Bossers W, Brenner H, Hveem K, Eklund N, Völker U, Waldenberger M, Fuentes Guajardo M, Gonzalez-Jose R, Bedoya G, Bortolini MC, Canizales S, Gallo C, Ruiz Linares A, Rothhammer F, Lorenzo Bermejo J. Cancer Epidemiol. 2020 Apr;65:101643. Epub 2020 Feb 10. PMID: 32058310.

Arsenic and gallbladder cancer risk: Mendelian randomization analysis of European prospective data
Barahona Ponce C, Scherer D, Boekstegers F, Garate-Calderon V, Jenab M, Aleksandrova K, Katzke V, Weiderpass E, Bonet C, Moradi T, Fischer K, Bossers W, Brenner H, Schöttker B, Holleczek B, Hveem K, Eklund N, Völker U, Waldenberger M, Lorenzo Bermejo J. Int J Cancer. 2020 May 1;146(9):2648-2650. Epub 2019 Dec 31. PMID: 31846055.

Effects of TM6SF2 E167K on hepatic lipid and very low-density lipoprotein metabolism in humans
Borén J, Adiels M, Björnson E, Matikainen N, Söderlund S, Rämö J, Ståhlman M, Ripatti P, Ripatti S, Palotie A, Mancina RM, Hakkarainen A, Romeo S, Packard CJ, Taskinen MR. JCI Insight. 2020 Dec 17;5(24):e144079.

Polygenic and clinical risk scores and their impact on age at onset of cardiometabolic diseases and common cancers
Nina Mars, Jukka T Koskela, Pietari Ripatti, Tuomo T J Kiiskinen, Aki S Havulinna, Joni V Lindbohm, Ari Ahola-Olli, Mitja Kurki, Juha Karjalainen, Priit Palta, FinnGen; Benjamin M Neale, Mark Daly, Veikko Salomaa, Aarno Palotie, Elisabeth Widén, Samuli Ripatti. Nature Medicine (2020) 26:549–557.

The role of polygenic risk and susceptibility genes in breast cancer over the course of life
Mars N, Widén E, Kerminen S, Meretoja T, Pirinen M, Della Briotta Parolo P, Palta P; FinnGen, Palotie A, Kaprio J, Joensuu H, Daly M, Ripatti S. Nat Commun. (2020) 14;11(1):6383. 

Seroprevalence of Lyme borreliosis in Finland 50 years ago
Cuellar J, Dub T, Sane J, Hytönen J. 2020; Clin Microbiol Infect.;26(5):632-636. PMID: 31622667

Genetic and functional implications of an exonic TRIM55 variant in heart failure
Heliste J, Chheda H, Paatero I, Salminen TA, Akimov Y, Paavola J, Elenius K, Aittokallio T. 2020; J Mol Cell Cardiol.;138:222-233. PMID: 31866377

Genetic and lifestyle risk factors for advanced liver disease among men and women
Sahlman P, Nissinen M, Puukka P, Jula A, Salomaa V, Männistö S, Lundqvist A, Valsta L, Perola M, Färkkilä M, Åberg F. 2020; J Gastroenterol Hepatol.;35(2):291-298. PMID: 31260143

Risks of Light and Moderate Alcohol Use in Fatty Liver Disease: Follow-Up of Population Cohorts
Åberg F, Puukka P, Salomaa V, Männistö S, Lundqvist A, Valsta L, Perola M, Färkkilä M, Jula A. 2020; Hepatology;71(3):835-848. PMID:31323122

Combined Effects of Alcohol and Metabolic Disorders in Patients With Chronic Liver Disease
Åberg F, Puukka P, Salomaa V, Männistö S, Lundqvist A, Valsta L, Perola M, Jula A, Färkkilä M. 2020; Clin Gastroenterol Hepatol.;18(4):995-997.e2. PMID: 31255807

2019

Circulating metabolites and the risk of type 2 diabetes: a prospective study of 11,896 young adults from four Finnish cohorts
Ahola-Olli AV, Mustelin L, Kalimeri M, Kettunen J, Jokelainen J, Auvinen J, Puukka K, Havulinna AS, Lehtimäki T, Kähönen M, Juonala M, Keinänen-Kiukaanniemi S, Salomaa V, Perola M, Järvelin MR, Ala-Korpela M, Raitakari O, Würtz P. 2019; Diabetologia;62(12):2298-2309. PMID: 31584131

Insulin Resistance and Genetic Risk Predict Liver-Related Outcomes and Death in Nonalcoholic Fatty Liver Disease
Danford CJ, Jiang ZG, Salomaa V, Färkkilä M, Jula A, Männistö S, Lundqvist A, Valsta L, Perola M, Åberg F. 2019; Hepatol Commun.;3(12):1704-1705. PMID:31832576

Search for Early Pancreatic Cancer Blood Biomarkers in Five European Prospective Population Biobanks Using Metabolomics
Fest J, Vijfhuizen LS, Goeman JJ, Veth O, Joensuu A, Perola M, Männistö S, Ness-Jensen E, Hveem K, Haller T, Tonisson N, Mikkel K, Metspalu A, van Duijn CM, Ikram A, Stricker BH, Ruiter R, van Eijck CHJ, van Ommen GB, ʼt Hoen PAC. 2019; Endocrinology.;160(7):1731-1742. PMID: 31125048

Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland
Kerminen S, Martin AR, Koskela J, Ruotsalainen SE, Havulinna AS, Surakka I, Palotie A, Perola M, Salomaa V, Daly MJ, Ripatti S, Pirinen M. 2019; Am J Hum Genet.;104(6):1169-1181. PMID: 31155286

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland
Kurki MI, Saarentaus E, Pietiläinen O, Gormley P, Lal D, Kerminen S, Torniainen-Holm M, Hämäläinen E, Rahikkala E, Keski-Filppula R, Rauhala M, Korpi-Heikkilä S, Komulainen-Ebrahim J, Helander H, Vieira P, Männikkö M, Peltonen M, Havulinna AS, Salomaa V, Pirinen M, Suvisaari J, Moilanen JS, Körkkö J, Kuismin O, Daly MJ, Palotie A. 2019; Nat Commun.;10(1):410. PMID:30679432

Association analyses identify 31 new risk loci for colorectal cancer susceptibility
Law PJ, Timofeeva M, Fernandez-Rozadilla C, Broderick P, Studd J, Fernandez-Tajes J, Farrington S, Svinti V, Palles C, Orlando G, Sud A, Holroyd A, Penegar S, Theodoratou E, Vaughan-Shaw P, Campbell H, Zgaga L, Hayward C, Campbell A, Harris S, Deary IJ, Starr J, Gatcombe L, Pinna M, Briggs S, Martin L, Jaeger E, Sharma-Oates A, East J, Leedham S, Arnold R, Johnstone E, Wang H, Kerr D, Kerr R, Maughan T, Kaplan R, Al-Tassan N, Palin K, Hänninen UA, Cajuso T, Tanskanen T, Kondelin J, Kaasinen E, Sarin AP, Eriksson JG, Rissanen H, Knekt P, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Renkonen-Sinisalo L, Lepistö A, Böhm J, Mecklin JP, Buchanan DD, Win AK, Hopper J, Jenkins ME, Lindor NM, Newcomb PA, Gallinger S, Duggan D, Casey G, Hoffmann P, Nöthen MM, Jöckel KH, Easton DF, Pharoah PDP, Peto J, Canzian F, Swerdlow A, Eeles RA, Kote-Jarai Z, Muir K, Pashayan N; PRACTICAL consortium, Harkin A, Allan K, McQueen J, Paul J, Iveson T, Saunders M, Butterbach K, Chang-Claude J, Hoffmeister M, Brenner H, Kirac I, Matošević P, Hofer P, Brezina S, Gsur A, Cheadle JP, Aaltonen LA, Tomlinson I, Houlston RS, Dunlop MG. 2019; Nat Commun.;10(1):2154. PMID:31089142

Polygenic burden in focal and generalized epilepsies
Leu C, Stevelink R, Smith AW, Goleva SB, Kanai M, Ferguson L, Campbell C, Kamatani Y, Okada Y, Sisodiya SM, Cavalleri GL, Koeleman BPC, Lerche H, Jehi L, Davis LK, Najm IM, Palotie A, Daly MJ, Busch RM; Epi25 Consortium, Lal D. Brain. 2019 Nov 1;142(11):3473-3481. PMID: 31608925

Exome sequencing of Finnish isolates enhances rare-variant association power
Locke AE, Steinberg KM, Chiang CWK, Service SK, Havulinna AS, Stell L, Pirinen M, Abel HJ, Chiang CC, Fulton RS, Jackson AU, Kang CJ, Kanchi KL, Koboldt DC, Larson DE, Nelson J, Nicholas TJ, Pietilä A, Ramensky V, Ray D, Scott LJ, Stringham HM, Vangipurapu J, Welch R, Yajnik P, Yin X, Eriksson JG, Ala-Korpela M, Järvelin MR, Männikkö M, Laivuori H; FinnGen Project, Dutcher SK, Stitziel NO, Wilson RK, Hall IM, Sabatti C, Palotie A, Salomaa V, Laakso M, Ripatti S, Boehnke M, Freimer NB. 2019; Nature;572(7769):323-328.

Human PNPLA3-I148M variant increases hepatic retention of polyunsaturated fatty acids
Luukkonen PK, Nick A, Hölttä-Vuori M, Thiele C, Isokuortti E, Lallukka-Brück S, Zhou Y, Hakkarainen A, Lundbom N, Peltonen M, Orho-Melander M, Orešič M, Hyötyläinen T, Hodson L, Ikonen E, Yki-Järvinen H. 2019; JCI Insight.;4(16). pii: 127902. PMID: 31434800

Serum lipopolysaccharides predict advanced liver disease in the general population
Männistö V, Färkkilä M, Pussinen P, Jula A, Männistö S, Lundqvist A, Valsta L, Salomaa V, Perola M, Åberg F. 2019: JHEP Rep.;1(5):345-352. PMID: 32039385

Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy
Nath AP, Ritchie SC, Grinberg NF, Tang HH, Huang QQ, Teo SM, Ahola-Olli AV, Würtz P, Havulinna AS, Santalahti K, Pitkänen N, Lehtimäki T, Kähönen M, Lyytikäinen LP, Raitoharju E, Seppälä I, Sarin AP, Ripatti S, Palotie A, Perola M, Viikari JS, Jalkanen S, Maksimow M, Salmi M, Wallace C, Raitakari OT, Salomaa V, Abraham G, Kettunen J, Inouye M. 2019; Am J Hum Genet.;105(6):1076-1090. PMID: 31679650

Elevated serum alpha-1 antitrypsin is a major component of GlycA-associated risk for future morbidity and mortality
Ritchie SC, Kettunen J, Brozynska M, Nath AP, Havulinna AS, Männistö S, Perola M, Salomaa V, Ala-Korpela M, Abraham G, Würtz P, Inouye M. 2019; PLoS One.;14(10):e0223692. PMID: 31644575

Coronary Artery Disease Risk and Lipidomic Profiles Are Similar in Hyperlipidemias With Family History and Population-Ascertained Hyperlipidemias
Rämö JT, Ripatti P, Tabassum R, Söderlund S, Matikainen N, Gerl MJ, Klose C, Surma MA, Stitziel NO, Havulinna AS, Pirinen M, Salomaa V, Freimer NB, Jauhiainen M, Palotie A, Taskinen MR, Simons K, Ripatti S. 2019; J Am Heart Assoc.;8(13):e012415. PMID: 31256696

Genetic architecture of human plasma lipidome and its link to cardiovascular disease
Tabassum R, Rämö JT, Ripatti P, Koskela JT, Kurki M, Karjalainen J, Palta P, Hassan S, Nunez-Fontarnau J, Kiiskinen TTJ, Söderlund S, Matikainen N, Gerl MJ, Surma MA, Klose C, Stitziel NO, Laivuori H, Havulinna AS, Service SK, Salomaa V, Pirinen M; FinnGen Project, Jauhiainen M, Daly MJ, Freimer NB, Palotie A, Taskinen MR, Simons K, Ripatti S. 2019; Nat Commun.;10(1):4329. PMID: 31551469