Urmo Võsa

2024

Identification of rare disease genes as drivers of common diseases through tissue-specific gene regulatory networks

Bakker, O. B., Claringbould, A., Westra, H. J., Wiersma, H., Boulogne, F., Võsa, U., Urzúa-Traslaviña, C. G., Mulcahy Symmons, S., Zidan, M. M. M., Sadler, M. C., Kutalik, Z., Jonkers, I. H., Franke, L. & Deelen, P., Dec-2024, In: Scientific Reports. 14, 13 p., 30206.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

SMIM1 absence is associated with reduced energy expenditure and excess weight

DBDS Genetic Consortium, MAGIC, Stefanucci, L., Moslemi, C., Tomé, A. R., Virtue, S., Bidault, G., Gleadall, N. S., Watson, L. P. E., Kwa, J. E., Burden, F. & Farrow, S., 13-Sept-2024, In: Med. 5, 9, p. 1083-1095 13 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

2 Citations (Scopus)

19 Downloads (Pure)

2023

OTTERS: a powerful TWAS framework leveraging summary-level reference data

eQTLgen Consortium, Dai, Q., Zhou, G., Zhao, H., Võsa, U., Franke, L., Battle, A., Teumer, A., Lehtimäki, T., Raitakari, O. T., Esko, T., Epstein, M. P. & Yang, J., Dec-2023, In: Nature Communications. 14, 13 p., 1271.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

16 Citations (Scopus)

118 Downloads (Pure)

2022

Author Correction: Genetic analysis of over half a million people characterises C-reactive protein loci (Nature Communications, (2022), 13, 1, (2198), 10.1038/s41467-022-29650-5)

Said, S., Pazoki, R., Karhunen, V., Võsa, U., Ligthart, S., Bodinier, B., Koskeridis, F., Welsh, P., Alizadeh, B. Z., Chasman, D. I., Sattar, N., Chadeau-Hyam, M., Evangelou, E., Jarvelin, M. R., Elliott, P., Tzoulaki, I. & Dehghan, A., 5-Jul-2022, In: Nature Communications. 13, 1, 1 p., 3865.

Research output: Contribution to journal › Erratum

Open Access

File

1 Citation (Scopus)

41 Downloads (Pure)

Genetic analysis of over half a million people characterises C-reactive protein loci

Said, S., Pazoki, R., Karhunen, V., Võsa, U., Ligthart, S., Bodinier, B., Koskeridis, F., Welsh, P., Alizadeh, B. Z., Chasman, D. I., Sattar, N., Chadeau-Hyam, M., Evangelou, E., Jarvelin, M.-R., Elliott, P., Tzoulaki, I. & Dehghan, A., 22-Apr-2022, In: Nature Communications. 13, 1, 10 p., 2198.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

79 Citations (Scopus)

66 Downloads (Pure)

Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations

Estonian Biobank Research Team, Lepamets, M., Auwerx, C., Nõukas, M., Claringbould, A., Porcu, E., Kals, M., Jürgenson, T., Morris, A. P., Võsa, U., Bochud, M., Stringhini, S., Wijmenga, C., Franke, L., Peterson, H., Vilo, J., Lepik, K., Mägi, R. & Kutalik, Z., 13-Oct-2022, In: Human Genetics and Genomics Advances. 3, 4, 12 p., 100133.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

5 Citations (Scopus)

137 Downloads (Pure)

2021

Large-scale association analyses identify host factors influencing human gut microbiome composition

MiBioGen Consortium Initiative, Kurilshikov, A., Medina-Gomez, C., Bacigalupe, R., Radjabzadeh, D., Wang, J., Demirkan, A., Le Roy, C. I., Raygoza Garay, J. A., Finnicum, C. T., Liu, X., Zhernakova, D. V., Bonder, M. J., Hansen, T. H., Frost, F., Ruehlemann, M. C., Turpin, W., Moon, J.-Y., Kim, H.-N. & Lull, K. & 31 others, Barkan, E., Shah, S. A., Fornage, M., Szopinska-Tokov, J., Wallen, Z. D., Borisevich, D., Agreus, L., Andreasson, A., Bang, C., Bedrani, L., Bell, J. T., Bisgaard, H., Boehnke, M., Boomsma, D. I., Burk, R. D., Claringbould, A., Croitoru, K., Davies, G. E., van Duijn, C. M., Duijts, L., Falony, G., Fu, J., van der Graaf, A., Hansen, T., Vosa, U., Westra, H.-J., Wijmenga, C., Lerch, M. M., Franke, L., Sanna, S. & Zhernakova, A., 18-Jan-2021, In: Nature Genetics. 53, p. 156-165 19 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

1032 Citations (Scopus)

536 Downloads (Pure)

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

BIOS Consortium, i2QTL Consortium, Võsa, U., Claringbould, A., Westra, H.-J., Bonder, M. J., Deelen, P., Zeng, B., Kirsten, H., Saha, A., Kreuzhuber, R., Yazar, S., Brugge, H., Oelen, R., de Vries, D. H., van der Wijst, M. G. P., Kasela, S., Pervjakova, N., Alves, I. & Fave, M.-J. & 32 others, Agbessi, M., Christiansen, M. W., Jansen, R., Seppala, I., Tong, L., Teumer, A., Schramm, K., Hemani, G., Verlouw, J., Yaghootkar, H., Flitman, R. S., Brown, A., Kukushkina, V., Kalnapenkis, A., Rueger, S., Porcu, E., Kronberg, J., Kettunen, J., Lee, B., Zhang, F., Qi, T., Hernandez, J. A., Arindrarto, W., Beutner, F., Dmitrieva, J., Li, S., Penninx, B. W. J. H., Veldink, J. H., Warmerdam, R., Wijmenga, C., Swertz, M. & Franke, L., Sept-2021, In: Nature Genetics. 53, 9, p. 1300-1310 11 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

810 Citations (Scopus)

1328 Downloads (Pure)

Mendelian randomisation identifies alternative splicing of the FAS death receptor as a mediator of severe COVID-19

Klaric, L., Gisby, J. S., Papadaki, A., Muckian, M. D., Macdonald-Dunlop, E., Zhao, J. H., Tokolyi, A., Persyn, E., Pairo-Castineira, E., Morris, A. P., Kalnapenkis, A., Richmond, A., Landini, A., Hedman, Å. K., Prins, B., Zanetti, D., Wheeler, E., Kooperberg, C., Yao, C. & Petrie, J. R. & 49 others, Fu, J., Folkersen, L., Walker, M., Magnusson, M., Eriksson, N., Mattsson-Carlgren, N., Timmers, P. R. H. J., Hwang, S.-J., Enroth, S., Gustafsson, S., Vosa, U., Chen, Y., Siegbahn, A., Reiner, A., Johansson, Å., Thorand, B., Gigante, B., Hayward, C., Herder, C., Gieger, C., Langenberg, C., Levy, D., Zhernakova, D. V., Smith, J. G., Campbell, H., Sundstrom, J., Danesh, J., Michaëlsson, K., Suhre, K., Lind, L., Wallentin, L., Padyukov, L., Landén, M., Wareham, N. J., Göteson, A., Hansson, O., Eriksson, P., Strawbridge, R. J., Assimes, T. L., Esko, T., Gyllensten, U., Baillie, J. K., Paul, D. S., Joshi, P. K., Butterworth, A. S., Mälarstig, A., Pirastu, N., Wilson, J. F. & Peters, J. E., 7-Apr-2021, 28 p. (medRxiv : the preprint server for health sciences).

Research output: Working paper › Preprint › Academic

Systematic Prioritization of Candidate Genes in Disease Loci Identifies TRAFD1 as a Master Regulator of IFN gamma Signaling in Celiac Disease

BIOS Consortium, van der Graaf, A., Zorro, M. M., Claringbould, A., Vosa, U., Aguirre-Gamboa, R., Li, C., Mooiweer, J., Ricano-Ponce, I., Borek, Z., Koning, F., Kooy-Winkelaar, Y., Sollid, L. M., Qiao, S.-W., Kumar, V., Li, Y., Franke, L., Withoff, S., Wijmenga, C. & Sanna, S. & 1 others, Jonkers, I., 25-Jan-2021, In: Frontiers in Genetics. 11, p. 562434 16 p., 562434.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

24 Citations (Scopus)

159 Downloads (Pure)

2020

Deconvolution of bulk blood eQTL effects into immune cell subpopulations

BIOS Consortium, Aguirre-Gamboa, R., de Klein, N., di Tommaso, J., Claringbould, A., van der Wijst, M. G. P., de Vries, D., Brugge, H., Oelen, R., Vosa, U., Zorro, M. M., Chu, X., Bakker, O. B., Borek, Z., Ricano-Ponce, I., Deelen, P., Xu, C.-J., Swertz, M., Jonkers, I. & Withoff, S. & 9 others, Joosten, I., Sanna, S., Kumar, V., Koenen, H. J. P. M., Joosten, L. A. B., Netea, M. G., Wijmenga, C., Franke, L. & Li, Y., 12-Jun-2020, In: Bmc Bioinformatics. 21, 1, 23 p., 243.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

33 Citations (Scopus)

288 Downloads (Pure)

Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals

Folkersen, L., Gustafsson, S., Wang, Q., Hansen, D. H., Hedman, Å. K., Schork, A., Page, K., Zhernakova, D. V., Wu, Y., Peters, J., Eriksson, N., Bergen, S. E., Boutin, T. S., Bretherick, A. D., Enroth, S., Kalnapenkis, A., Gådin, J. R., Suur, B. E., Chen, Y. & Matic, L. & 63 others, Gale, J. D., Lee, J., Zhang, W., Quazi, A., Ala-Korpela, M., Choi, S. H., Claringbould, A., Danesh, J., Davey Smith, G., de Masi, F., Elmståhl, S., Engström, G., Fauman, E., Fernandez, C., Franke, L., Franks, P. W., Giedraitis, V., Haley, C., Hamsten, A., Ingason, A., Johansson, Å., Joshi, P. K., Lind, L., Lindgren, C. M., Lubitz, S., Palmer, T., Macdonald-Dunlop, E., Magnusson, M., Melander, O., Michaelsson, K., Morris, A. P., Mägi, R., Nagle, M. W., Nilsson, P. M., Nilsson, J., Orho-Melander, M., Polasek, O., Prins, B., Pålsson, E., Qi, T., Sjögren, M., Sundström, J., Surendran, P., Võsa, U., Werge, T., Wernersson, R., Westra, H.-J., Yang, J., Zhernakova, A., Ärnlöv, J., Fu, J., Smith, J. G., Esko, T., Hayward, C., Gyllensten, U., Landen, M., Siegbahn, A., Wilson, J. F., Wallentin, L., Butterworth, A. S., Holmes, M. V., Ingelsson, E. & Mälarstig, A., 16-Oct-2020, In: Nature Metabolism. 2, 10, p. 1135-1148 14 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

380 Citations (Scopus)

1224 Downloads (Pure)

2019

Allele specific expression identifies rare variants as cause for extreme allelic imbalance

BIOS Consortium, Jul-2019, In: European Journal of Human Genetics. 27, p. 601 1 p.

Research output: Contribution to journal › Meeting Abstract › Academic

Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases

Sanna, S., van Zuydam, N. R., Mahajan, A., Kurilshikov, A., Vich Vila, A., Võsa, U., Mujagic, Z., Masclee, A. A. M., Jonkers, D. M. A. E., Oosting, M., Joosten, L. A. B., Netea, M. G., Franke, L., Zhernakova, A., Fu, J., Wijmenga, C. & McCarthy, M. I., Apr-2019, In: Nature Genetics. 51, 4, p. 600-605 6 p.

Research output: Contribution to journal › Letter › Academic › peer-review

Open Access

File

1051 Citations (Scopus)

181 Downloads (Pure)

Comprehensive Multiple eQTL Detection and Its Application to GWAS Interpretation

Zeng, B., Lloyd-Jones, L. R., Montgomery, G. W., Metspalu, A., Esko, T., Franke, L., Vosa, U., Claringbould, A., Brigham, K. L., Quyyumi, A. A., Idaghdour, Y., Yang, J., Visscher, P. M., Powell, J. E. & Gibson, G., Jul-2019, In: Genetics. 212, 3, p. 905-918 14 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

20 Citations (Scopus)

65 Downloads (Pure)

Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

23and Me Res Team, eQTLgen Consortium, Int Cannabis Consortium & Soc Sci Genetic Association Con, Feb-2019, In: Nature Genetics. 51, 2, p. 245-257 16 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

425 Citations (Scopus)

Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances

eQTLgen Consortium, Timmers, P. R., Mounier, N., Lall, K., Fischer, K., Ning, Z., Feng, X., Bretherick, A. D. & Clark, D. W., 15-Jan-2019, In: eLife. 8, 40 p., 39856.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

161 Citations (Scopus)

340 Downloads (Pure)

High-throughput identification of human SNPs affecting regulatory element activity

van Arensbergen, J., Pagie, L., FitzPatrick, V. D., de Haas, M., Baltissen, M. P., Comoglio, F., van der Weide, R. H., Teunissen, H., Vosa, U., Franke, L., de Wit, E., Vermeulen, M., Bussemaker, H. J. & van Steensel, B., Jul-2019, In: Nature Genetics. 51, 7, p. 1160–1169 13 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

127 Citations (Scopus)

87 Downloads (Pure)

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

Porcu, E., Rueger, S., Lepik, K., eQTLgen Consortium & BIOS Consortium, 24-Jul-2019, In: Nature Communications. 10, 12 p., 3300.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

177 Citations (Scopus)

466 Downloads (Pure)

The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus

BIOS Consortium, KORA Study Grp, Schlicht, K., Nyczka, P., Caliebe, A., Freitag-Wolf, S., Claringbould, A., Franke, L., Vosa, U., Kardia, S. L. R., Smith, J. A., Zhao, W., Gieger, C., Peters, A., Prokisch, H., Strauch, K., Baurecht, H., Weidinger, S., Rosenstiel, P. & Huett, M.-T. & 3 others, Knecht, C., Szymczak, S. & Krawczak, M., Apr-2019, In: HUMAN GENETICS. 138, 4, p. 375-388 14 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

4 Citations (Scopus)

192 Downloads (Pure)

2018

Author Correction: Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome

Lifelines Cohort Study, Zhernakova, D. V., Le, T. H., Kurilshikov, A., Atanasovska, B., Bonder, M. J., Sanna, S., Claringbould, A., Võsa, U., Deelen, P., Franke, L., de Boer, R. A., Kuipers, F., Netea, M. G., Hofker, M. H., Wijmenga, C., Zhernakova, A. & Fu, J., Dec-2018, In: Nature Genetics. 50, 12, 1 p., 1752.

Research output: Contribution to journal › Erratum

2 Citations (Scopus)

Gene co-expression analysis for functional classification and gene-disease predictions

van Dam, S., Võsa, U., van der Graaf, A., Franke, L. & de Magalhães, J. P., Jul-2018, In: Briefings in Bioinformatics. 19, 4, p. 575-592 18 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

688 Citations (Scopus)

850 Downloads (Pure)

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

Lifelines Cohort Study, Ligthart, S., Vaez, A., Võsa, U., Stathopoulou, M. G., de Vries, P. S., Prins, B. P., Van der Most, P. J., Tanaka, T., Naderi, E., Rose, L. M., Wu, Y., Karlsson, R., Barbalic, M., Lin, H., Pool, R., Zhu, G., Macé, A., Sidore, C. & Trompet, S. & 16 others, Mangino, M., Sabater-Lleal, M., Kemp, J. P., Abbasi, A., Kacprowski, T., Verweij, N., Smith, A. V., Huang, T., Marzi, C., Feitosa, M. F., Lohman, K. K., Kleber, M. E., Milaneschi, Y., Huq, M., Zhao, J. H. & Amini, M., 1-Nov-2018, In: American Journal of Human Genetics. 103, 5, p. 691-706 16 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

294 Citations (Scopus)

42 Downloads (Pure)

Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes

eQTLgen Consortium, Xue, A., Wu, Y., Zhu, Z., Zhang, F., Kemper, K. E., Zheng, Z., Yengo, L., Lloyd-Jones, L. R., Sidorenko, J., Wu, Y., McRae, A. F., Visscher, P. M., Zeng, J. & Yang, J., 27-Jul-2018, In: Nature Communications. 9, 1, 14 p., 2941.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

559 Citations (Scopus)

37 Downloads (Pure)

Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

eQTLgen Consortium, Qi, T., Wu, Y., Zeng, J., Zhang, F., Xue, A., Jiang, L., Zhu, Z., Kemper, K., Yengo, L., Zheng, Z. & Visscher, P. M., 1-Dec-2018, In: Nature Communications. 9, 1, 12 p., 2282.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

234 Citations (Scopus)

17 Downloads (Pure)

Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome

Lifelines Cohort Study, Nov-2018, In: Nature Genetics. 50, 11, p. 1524-+ 12 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

76 Citations (Scopus)

Integration of multi-omics data and deep phenotyping enables prediction of cytokine responses

Bakker, O. B., Aguirre-Gamboa, R., Sanna, S., Oosting, M., Smeekens, S. P., Jaeger, M., Zorro, M., Vosa, U., Withoff, S., Netea-Maier, R. T., Koenen, H. J. P. M., Joosten, I., Xavier, R. J., Franke, L., Joosten, L. A. B., Kumar, V., Wijmenga, C., Netea, M. G. & Li, Y., Jul-2018, In: Nature Immunology. 19, 7, p. 776-786 16 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

92 Citations (Scopus)

2017

Endothelial TLR4 and the microbiome drive cerebral cavernous malformations

Tang, A. T., Hoi, J. P. C., Kotzin, J. J., Yang, Y., Hong, C. C., Hobson, N., Girard, R., Zeineddine, H. A., Lightle, R., Moore, T., Cao, Y., Shenkar, R., Chen, M., Mericko, P., Yang, J., Li, L., Tanes, C., Kobuley, D., Vosa, U. & Whitehead, K. J. & 10 others, Li, D. Y., Franke, L., Hart, B., Schwaninger, M., Henao-Mejia, J., Morrison, L., Kim, H., Awad, I. A., Zheng, X. & Kahn, M. L., 18-May-2017, In: Nature. 545, 7654, p. 305-310 20 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

233 Citations (Scopus)

2016

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

van Rheenen, W., Shatunov, A., Dekker, A. M., McLaughlin, R. L., Diekstra, F. P., Pulit, S. L., van der Spek, R. A. A., Vosa, U., de Jong, S., Robinson, M. R., Yang, J., Fogh, I., van Doormaal, P. T. C., Tazelaar, G. H. P., Koppers, M., Blokhuis, A. M., Sproviero, W., Jones, A. R., Kenna, K. P. & van Eijk, K. R. & 36 others, Harschnitz, O., Schellevis, R. D., Brands, W. J., Medic, J., Menelaou, A., Vajda, A., Ticozzi, N., Lin, K., Rogelj, B., Vrabec, K., Ravnik-Glavac, M., Koritnik, B., Zidar, J., Leonardis, L., Groselj, L. D., Millecamps, S., Salachas, F., Meininger, V., de Carvalho, M., Pinto, S., Mora, J. S., Rojas-Garcia, R., Polak, M., Chandran, S., Colville, S., Swingler, R., Morrison, K. E., Shaw, P. J., Hardy, J., Franke, L., PARALS Registry, SLALOM Grp, SLAP Registry, FALS Sequencing Consortium, SLAGEN Consortium & NNIPPS Study Grp, Sept-2016, In: Nature Genetics. 48, 9, p. 1043-1050 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

418 Citations (Scopus)

2013

Human Disease-Associated Genetic Variation Impacts Large Intergenic Non-Coding RNA Expression

Kumar, V., Westra, H.-J., Karjalainen, J., Zhernakova, D. V., Esko, T., Hrdlickova, B., Almeida, R., Zhernakova, A., Reinmaa, E., Hofker, M. H., Fehrmann, R. S. N., Fu, J., Withoff, S., Metspalu, A., Franke, L., Wijmenga, C. & Vosa, U., Jan-2013, In: PLoS genetics. 9, 1, 9 p., e1003201.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

231 Citations (Scopus)

344 Downloads (Pure)

Urmo Võsa

Research output

Search results