Andres Metspalu - Selected Publications#

1. Teder-Laving, Maris; Kals, Mart; Reigo, Anu; Ehin, Riin; Objärtel, Telver; Vaht, Mariliis; Nikopensius, Tiit; Metspalu, Andres; Kingo, Külli (2023). Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris. European Journal of Human Genetics.

This study is demonstrating that genetic factors have important role in developing the acne vulgaris. This disease is not killing, but has profound effect of quality of life, especially in young.

2. Collins, Rory; Balaconis, Mary K.; Brunak, Søren; Chen, Zhengming; De Silva, Mary; Gaziano, J. Michael; Ginsburg, Geoffrey S.; Jha, Prabhat; Kuri, Pablo; Metspalu, Andres; Mulder, Nicola; Risch, Neil (2022). Global priorities for large-scale biomarker-based prospective cohorts. Cell Genomics, 2 (6), 100141.

This paper is to demonstrate that A. Metspalu is among the international group of scientists who are setting the goals for the future biobanking.

3. Orthofer, Michael; Valsesia, Armand; Maegi, Reedik; Wang, Qiao-Ping; Kaczanowska, Joanna; Kozieradzki, Ivona; Leopoldi, Alexandra; Cikes, Domagoj; Zopf, Lydia M.; Tretiakov, Evgenii O.; Demetz, Egon; Hilbe, Richard; Boehm, Anna; Ticevic, Melita; Noukas, Margit; Jais, Alexander; Spirk, Katrin; Clark, Teleri; Amann, Sabine; Lepamets, Maarja ... Metspalu, A; … Penninger, Josef M. (2020). Identification of ALK in Thinness. Cell, 181 (6), 1246−1285.

Majority of the BMI based studies are focussed on obesity, but this study our aim was opposite, to study people who eat normally, but do not gain weight, rather are very thin. And we find a gene.

4. Alver, M; Palover, M; Saar, A; Läll, K; Zekavat, SM; Tõnisson, N; Leitsalu, L; Reigo, A; Nikopensius, T; Ainla, T; Kals, M; Mägi, R; Gabriel, SB; Eha, J; Lander, ES; Irs, A; Philippakis, A; Marandi, T; Natarajan, P; Metspalu, A; Kathiresan, S; Esko, T. (2019). Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia. Genetics in Medicine, 21 (5), 1−8.

This study is demonstrating that recall individuals from the biobank by genotype only is feasible strategy. Usually, physicians like to start with the phenotype! This paper was selects into top 10 papers by ASHG in 2019.

5. Evangelou, Evangelos; Warren, Helen R.; Mosen-Ansorena, David; Mifsu, Borbala; Pazoki, Raha; Gao, He; Ntritsos, Georgios; Dimou, Niki; Cabrer, Claudia P.; Karaman, Ibrahim; Ng, FuLiang; Evangelou, Marina; Witkowska, Katarzyna; Tzanis, Evan; Hellwege, Jacklyn N.; Giri, Ayush; Edwards, Digna R. Velez; Sun, Yan, V; Cho, Kelly; Gaziano, J. Michael ... Metspalu, Andres, … Caulfield, Mark J. (2018). Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. Nature Genetics, 50 (10), 1412−1429.

This is one of our large-scale international collaboration studies, where we report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future. Studies like this are the basis of the polygenic risk scores, where large number of the genomic variants are very good predictors for the primary prevention of the common disease or drug response. Individually single variant is contributing only a small proportion of the risk.

6. Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators, Stitziel, Nathan O; Stirrups, Kathleen E; Masca, Nicholas G D; Erdmann, Jeanette; Ferrario, Paola G; König, Inke R; Weeke, Peter E; Webb, Thomas R; Auer, Paul L; Schick, Ursula M; Lu, Yingchang; Zhang, He; Dube, Marie-Pierre; Goel, Anuj; Farrall, Martin; Peloso, Gina M; Won, Hong-Hee; Do, Ron; van Iperen, Erik ... Metspalu, Andres; … Schunkert, Heribert. (2016). Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. New England Journal of Medicine, 374 (12), 1134−1144.

This is the second example of our many international collaboration studies. We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride levels that were lower than those among noncarriers; these mutations were also associated with protection from coronary artery disease.

7. Leitsalu, Liis; Haller, Toomas; Esko, Tõnu; Tammesoo, Mari-Liis; Alavere, Helene; Snieder, Harold; Perola, Markus; Ng, Pauline C; Mägi, Reedik; Milani, Lili; Fischer, Krista; Metspalu, Andres (2015). Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu. International Journal of Epidemiology, 44 (4), 1137−1147.

This study is describing the Estonian Biobank in detail, what was needed for our international collaboration projects.

8. Fischer, K.; Kettunen, J.; Würtz, P.; Haller, T.; Aki S. Havulinna, A.S.; Kangas, A.J.; Soininen, P.; Esko, T.; Tammesoo, M-L.; Mägi, R.; Smit, S.; Palotie, A.; Ripatti, S.; Veikko Salmaa, V.; Ala-Korpela, M.; Perola, M.; Metspalu, A. (2014). Biomarker Profiling by Nuclear Magnetic Resonance Spectroscopy for the Prediction of All-Cause Mortality: An Observational Study of 17,345 Persons. PLoS Medicine, 11 (2), e1001606.

This study was one of the first to demonstrate that the biomarkers obtained by NMR have very strong predictive power of the short-term risk of death.

9. Nelis, M.; Esko, T.; Mägi, R.; Zimprich, F.; Zimprich, A.; Toncheva, D.; Karachanak, S.; Piskácková, T.; Balascák, I.; Peltonen, L.; Jakkula, E.; Rehnström, K.; Lathrop, M.; Heath, S.; Galan, P.; Schreiber, S.; Meitinger, T.; Pfeufer, A.; Wichmann, HE.; Melegh, B. ... Metspalu, A. (2009). Genetic structure of Europeans: a view from the North-East. PLoS ONE, 4(5), e5472.

This study, organized by Estonian Genome Center, was one of the first which allowed to create the comprehensive European genetic map. It was needed to establish the relationship of Estonian population (and Estonian Biobank) among the other European populations. It is important to note that 15 years later, in 2024, the EU 1+Million Genome Initiative WG12 (where I’m a co-chair) will start the “Genome of Europe” project where 100 000+ people will be sequenced across the Europe in order to get the reference database.

10. Dawson, E.; Abecasis, GR.; Bumpstead, S.; Chen, Y.; Hunt, S.; Beare, DM.; Pabial, J.; Dibling, T.; Tinsley, E.; Kirby, S.; Carter, D.; Papaspyridonos, M.; Livingstone, S.; Ganske, R.; Lohmmussaar, E.; Zernant, J.; Tonisson, N.; Remm, M.; Magi, R.; Puurand, T; Vilo, J; Kurh, A; Rice, A; Deloukas, P; Mott, R; Metspalu, A; Bentley, DR; Cardon, LR; Dunham, I. (2002). A first-generation linkage disequilibrium map of human chromosome 22. Nature, 418 (6897), 544−548.

This was the first LD map of the whole human chromosome, and it demonstrated that DNA samples from UK and Estonian populations plus CEPH families have very similar although variable LD pattern which was surprising. Results were not dependent of the technology used: the Estonian samples were analyzed using APEX technology in Tartu, UK and CEPH samples were analyzed using Third Wave technology at Sanger Centre, UK. This study demonstrated the feasibility of developing genome-wide maps of LD, which become the basis of all the later GWAS studies.

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