Search results

  • 2024

    A genome-wide association analysis reveals new pathogenic pathways in gout

    Major, T. J., Takei, R., Matsuo, H., Leask, M., Sumpter, N. A., Topless, R., Shirai, Y., Wang, W., Cadzow, M., Phipps-Green, A., Li, Z., Ji, A., Merriman, M. E., Morice, E., Kelley, E. E., Wei, W.-H., McCormick, S. P. A., Bixley, M. J., Reynolds, R. J. & Saag, K. G. & 78 others, Fadason, T., Golovina, E., O'Sullivan, J. M., Stamp, L. K., Dalbeth, N., Abhishek, A., Doherty, M., Roddy, E., Jacobsson, L. T. H., Kapetanovic, M. C., Melander, O., Andres, M., Perez-Ruiz, F., Torres, R. J., Radstake, T., Jansen, T. L., Janssen, M., Joosten, L. A. B., Liu, R., Gaal, O. I., Crisan, T. O., Rednic, S., Kurreeman, F., Huizinga, T. W. J., Toes, R., Lioté, F., Richette, P., Bardin, T., Ea, H. K., Pascart, T., McCarthy, G. M., Helbert, L., Stiburkova, B., Tausche, A.-K., Uhlig, T., Vitart, V., Boutin, T. S., Hayward, C., Riches, P., Ralston, S. H., Campbell, A., Macdonald, T. M., Nakayama, A., Takada, T., Nakatochi, M., Shimizu, S., Kawamura, Y., Toyoda, Y., Nakaoka, H., Yamamoto, K., Matsuo, K., Shinomiya, N., Ichida, K., Lee, C., Bradbury, L. A., Brown, M. A., Robinson, P. C., Buchanan, R. R. C., Hill, C. L., Lester, S., Smith, M. D., Rischmueller , M., Choi, H. K., Stahl, E. A., Miner, J. N., Solomon, D. H., Cui, J., Giacomini, K. M., Brackman, D. J., Jorgenson, E. M., Liu, H., Susztak, K., Shringarpure, S., So, A., Okada, Y., Li, C., Shi, Y. & Merriman, T. R., Nov 2024, In: Nature Genetics. 56, 11, p. 2392-2406

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  • Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits

    Keaton, J. M., Kamali, Z., Xie, T., Vaez, A., Williams, A., Goleva, S. B., Ani, A., Evangelou, E., Hellwege, J. N., Yengo, L., Young, W. J., Traylor, M., Giri, A., Zheng, Z., Zeng, J., Chasman, D. I., Morris, A. P., Caulfield, M. J., Hwang, S.-J. & Kooner, J. S. & 131 others, Conen, D., Attia, J. R., Morrison, A. C., Loos, R. J. F., Kristiansson, K., Schmidt, R., Hicks, A. A., Pramstaller, P. P., Nelson, C. P., Samani, N. J., Risch, L., Gyllensten, U., Melander, O., Riese, H., Wilson, J. F., Campbell, H., Rich, S. S., Psaty, B. M., Lu, Y., Rotter, J. I., Guo, X., Rice, K. M., Vollenweider, P., Sundström, J., Langenberg, C., Tobin, M. D., Giedraitis, V., Luan, J., Tuomilehto, J., Kutalik, Z., Ripatti, S., Salomaa, V., Girotto, G., Trompet, S., Jukema, J. W., van der Harst, P., Ridker, P. M., Giulianini, F., Vitart, V., Goel, A., Watkins, H., Harris, S. E., Deary, I. J., van der Most, P. J., Oldehinkel, A. J., Keavney, B. D., Hayward, C., Campbell, A., Boehnke, M., Scott, L. J., Boutin, T., Mamasoula, C., Järvelin, M.-R., Peters, A., Gieger, C., Lakatta, E. G., Cucca, F., Hui, J., Knekt, P., Enroth, S., De Borst, M. H., Polašek, O., Concas, M. P., Catamo, E., Cocca, M., Li-Gao, R., Hofer, E., Schmidt, H., Spedicati, B., Waldenberger, M., Strachan, D. P., Laan, M., Teumer, A., Dörr, M., Gudnason, V., Cook, J. P., Ruggiero, D., Kolcic, I., Boerwinkle, E., Traglia, M., Lehtimäki, T., Raitakari, O. T., Johnson, A. D., Newton-Cheh, C., Brown, M. J., Dominiczak, A. F., Sever, P. J., Poulter, N., Chambers, J. C., Elosua, R., Siscovick, D., Esko, T., Metspalu, A., Strawbridge, R. J., Laakso, M., Hamsten, A., Hottenga, J.-J., de Geus, E., Morris, A. P., Palmer, C. N. A., Nolte, I. M., Milaneschi, Y., Marten, J., Wright, A., Zeggini, E., Howson, J. M. M., O’Donnell, C. J., Spector, T., Nalls, M. A., Simonsick, E. M., Liu, Y., van Duijn, C. M., Butterworth, A. S., Danesh, J. N., Menni, C., Wareham, N. J., Khaw, K.-T., Sun, Y. V., Wilson, P. W. F., Cho, K., Visscher, P. M., Denny, J. C., Program, M. V., Study, L. C., consortium, C., Consortium, I., Levy, D., Edwards, T. L., Munroe, P. B., Snieder, H. & Warren, H. R., May 2024, In: Nature Genetics. 56, 5, p. 778-791 14 p.

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  • X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements

    Scholz, M., Horn, K., Pott, J., Wuttke, M., Kühnapfel, A., Nasr, M. K., Kirsten, H., Li, Y., Hoppmann, A., Gorski, M., Ghasemi, S., Li, M., Tin, A., Chai, J.-F., Cocca, M., Wang, J., Nutile, T., Akiyama, M., Åsvold, B. O. & Bansal, N. & 139 others, Biggs, M. L., Boutin, T., Brenner, H., Brumpton, B., Burkhardt, R., Cai, J., Campbell, A., Campbell, H., Chalmers, J., Chasman, D. I., Chee, M. L., Chee, M. L., Chen, X., Cheng, C.-Y., Cifkova, R., Daviglus, M., Delgado, G., Dittrich, K., Edwards, T. L., Endlich, K., Michael Gaziano, J., Giri, A., Giulianini, F., Gordon, S. D., Gudbjartsson, D. F., Hallan, S., Hamet, P., Hartman, C. A., Hayward, C., Heid, I. M., Hellwege, J. N., Holleczek, B., Holm, H., Hutri-Kähönen, N., Hveem, K., Isermann, B., Jonas, J. B., Joshi, P. K., Kamatani, Y., Kanai, M., Kastarinen, M., Khor, C. C., Kiess, W., Kleber, M. E., Körner, A., Kovacs, P., Krajcoviechova, A., Kramer, H., Krämer, B. K., Kuokkanen, M., Kähönen, M., Lange, L. A., Lash, J. P., Lehtimäki, T., Li, H., Lin, B. M., Liu, J., Loeffler, M., Lyytikäinen, L.-P., Magnusson, P. K. E., Martin, N. G., Matsuda, K., Milaneschi, Y., Mishra, P. P., Mononen, N., Montgomery, G. W., Mook-Kanamori, D. O., Mychaleckyj, J. C., März, W., Nauck, M., Nikus, K., Nolte, I. M., Noordam, R., Okada, Y., Olafsson, I., Oldehinkel, A. J., Penninx, B. W. J. H., Perola, M., Pirastu, N., Polasek, O., Porteous, D. J., Poulain, T., Psaty, B. M., Rabelink, T. J., Raffield, L. M., Raitakari, O. T., Rasheed, H., Reilly, D. F., Rice, K. M., Richmond, A., Ridker, P. M., Rotter, J. I., Rudan, I., Sabanayagam, C., Salomaa, V., Schneiderman, N., Schöttker, B., Sims, M., Snieder, H., Stark, K. J., Stefansson, K., Stocker, H., Stumvoll, M., Sulem, P., Sveinbjornsson, G., Svensson, P. O., Tai, E.-S., Taylor, K. D., Tayo, B. O., Teren, A., Tham, Y.-C., Thiery, J., Thio, C. H. L., Thomas, L. F., Tremblay, J., Tönjes, A., van der Most, P. J., Vitart, V., Völker, U., Wang, Y. X., Wang, C., Wei, W. B., Whitfield, J. B., Wild, S. H., Wilson, J. F., Winkler, T. W., Wong, T.-Y., Woodward, M., Sim, X., Chu, A. Y., Feitosa, M. F., Thorsteinsdottir, U., Hung, A. M., Teumer, A., Franceschini, N., Parsa, A., Köttgen, A., Schlosser, P. & Pattaro, C., 18 Jan 2024, In: Nature Communications. 15, 1, p. 586

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  • Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications

    Sterenborg, R. B. T. M., Steinbrenner, I., Li, Y., Bujnis, M. N., Naito, T., Marouli, E., Galesloot, T. E., Babajide, O., Andreasen, L., Astrup, A., Åsvold, B. O., Bandinelli, S., Beekman, M., Beilby, J. P., Bork-Jensen, J., Boutin, T., Brody, J. A., Brown, S. J., Brumpton, B. & Campbell, P. J. & 123 others, Cappola, A. R., Ceresini, G., Chaker, L., Chasman, D. I., Concas, M. P., Coutinho de Almeida, R., Cross, S. M., Cucca, F., Deary, I. J., Kjaergaard, A. D., Echouffo Tcheugui, J. B., Ellervik, C., Eriksson, J. G., Ferrucci, L., Freudenberg, J., Fuchsberger, C., Gieger, C., Giulianini, F., Gögele, M., Graham, S. E., Grarup, N., Gunjača, I., Hansen, T., Harding, B. N., Harris, S. E., Haunsø, S., Hayward, C., Hui, J., Ittermann, T., Jukema, J. W., Kajantie, E., Kanters, J. K., Kårhus, L. L., Kiemeney, L. A. L. M., Kloppenburg, M., Kühnel, B., Lahti, J., Langenberg, C., Lapauw, B., Leese, G., Li, S., Liewald, D. C. M., Linneberg, A., Lominchar, J. V. T., Luan, J., Martin, N. G., Matana, A., Meima, M. E., Meitinger, T., Meulenbelt, I., Mitchell, B. D., Møllehave, L. T., Mora, S., Naitza, S., Nauck, M., Netea-Maier, R. T., Noordam, R., Nursyifa, C., Okada, Y., Onano, S., Papadopoulou, A., Palmer, C. N. A., Pattaro, C., Pedersen, O., Peters, A., Pietzner, M., Polašek, O., Pramstaller, P. P., Psaty, B. M., Punda, A., Ray, D., Redmond, P., Richards, J. B., Ridker, P. M., Russ, T. C., Ryan, K. A., Olesen, M. S., Schultheiss, U. T., Selvin, E., Siddiqui, M. K., Sidore, C., Slagboom, P. E., Sørensen, T. I. A., Soto-Pedre, E., Spector, T. D., Spedicati, B., Srinivasan, S., Starr, J. M., Stott, D. J., Tanaka, T., Torlak, V., Trompet, S., Tuhkanen, J., Uitterlinden, A. G., van den Akker, E. B., van den Eynde, T., van der Klauw, M. M., van Heemst, D., Verroken, C., Visser, W. E., Vojinovic, D., Völzke, H., Waldenberger, M., Walsh, J. P., Wareham, N. J., Weiss, S., Willer, C. J., Wilson, S. G., Wolffenbuttel, B. H. R., Wouters, H. J. C. M., Wright, M. J., Yang, Q., Zemunik, T., Zhou, W., Zhu, G., Zöllner, S., Smit, J. W. A., Peeters, R. P., Köttgen, A., Teumer, A., Medici, M., DiscovEHR, G. & Center, R. G., 2024, In: Nature Communications. 15, 1, 18 p., 888.

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  • 2023

    Typing myalgic encephalomyelitis by infection at onset: A DecodeME study

    Bretherick, A. D., Mcgrath, S. J., Devereux-Cooke, A., Leary, S., Northwood, E., Redshaw, A., Stacey, P., Tripp, C., Wilson, J., Chowdhury, S., Lewis, I., Almelid, Ø., Baby, S. V., Baker, T., Becher, H., Boutin, T., Clyde, M., Garcia, D., Ireland, J. & Kerr, S. M. & 6 others, Mcdowall, E., Perry, D., Samms, G. L., Vitart, V., Wolfe, J. C. & Ponting, C. P., 22 Aug 2023, In: NIHR Open Research. 3, p. 20

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  • Open Access
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  • 2022

    Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals

    LifeLines Cohort Study, 13 Jun 2022, In: Communications Biology. 5, 1, p. 580 580.

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  • Genetic Landscape of the ACE2 Coronavirus Receptor

    GenOMICC Consortium and the IMI-DIRECT Consortium, 3 May 2022, In: Circulation. 145, 18, p. 1398-1411

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  • Genome-Wide Association Analysis and Genomic Prediction of Thyroglobulin Plasma Levels

    Pleić, N., Babic Leko, M., Gunjača, I., Boutin, T., Torlak, V., Matana, A., Punda, A., Polašek, O., Hayward, C. & Zemunik, T., 17 Feb 2022, (E-pub ahead of print) In: International Journal of Molecular Sciences.

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  • SNP and Haplotype Regional Heritability Mapping (SNHap-RHM): Joint Mapping of Common and Rare Variation Affecting Complex Traits

    Oppong, R. F., Boutin, T., Campbell, A., McIntosh, A. M., Porteous, D., Hayward, C., Haley, C. S., Navarro, P. & Knott, S., 6 Jan 2022, In: Frontiers in Genetics. 12, 791712.

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  • 2021
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  • Variants associated with HHIP expression have sexdifferential effects on lung function

    Fawcett, K. A., Obeidat, M., Melbourne, C., Shrine, N., Guyatt, A. L., John, C., Luan, J., Richmond, A., Moksnes, M. R., Granell, R., Weiss, S., Imboden, M., May-Wilson, S., Hysi, P., Boutin, T. S., Portas, L., Flexeder, C., Harris, S. E., Wang, C. A. & Lyytikäinen, L. P. & 55 others, Palviainen, T., Foong, R. E., Keidel, D., Minelli, C., Langenberg, C., Bossé, Y., Berge, M. V. D., Sin, D. D., Hao, K., Campbell, A., Porteous, D., Padmanabhan, S., Smith, B. H., Evans, D. M., Ring, S., Langhammer, A., Hveem, K., Willer, C., Ewert, R., Stubbe, B., Pirastu, N., Klaric, L., Joshi, P. K., Patasova, K., Massimo, M., Polasek, O., Starr, J. M., Karrasch, S., Strauch, K., Meitinger, T., Rudan, I., Rantanen, T., Pietiläinen, K., Kähönen, M., Raitakari, O. T., Hall, G. L., Sly, P. D., Pennell, C. E., Kaprio, J., Lehtimäki, T., Vitart, V., Deary, I. J., Jarvis, D., Wilson, J. F., Spector, T., Probst-Hensch, N., Wareham, N. J., Völzke, H., Henderson, J., Strachan, D. P., Brumpton, B. M., Hayward, C., Hall, I. P., Tobin, M. D. & Wain, L. V., 24 May 2021, In: Wellcome Open Research. 5, p. 1-20 20 p.

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  • Variants associated with HHIP expression have sex-differential effects on lung function

    Fawcett, K. A., Obeidat, M., Melbourne, C., Shrine, N., Guyatt, A. L., John, C., Luan, J., Richmond, A., Moksnes, M. R., Granell, R., Weiss, S., Imboden, M., May-wilson, S., Hysi, P., Boutin, T. S., Portas, L., Flexeder, C., Harris, S. E., Wang, C. A. & Lyytikäinen, L.-P. & 55 others, Palviainen, T., Foong, R. E., Keidel, D., Minelli, C., Langenberg, C., Bossé, Y., Van Den Berge, M., Sin, D. D., Hao, K., Campbell, A., Porteous, D., Padmanabhan, S., Smith, B. H., Evans, D. M., Ring, S., Langhammer, A., Hveem, K., Willer, C., Ewert, R., Stubbe, B., Pirastu, N., Klaric, L., Joshi, P. K., Patasova, K., Massimo, M., Polasek, O., Starr, J. M., Karrasch, S., Strauch, K., Meitinger, T., Rudan, I., Rantanen, T., Pietiläinen, K., Kähönen, M., Raitakari, O. T., Hall, G. L., Sly, P. D., Pennell, C. E., Kaprio, J., Lehtimäki, T., Vitart, V., Deary, I. J., Jarvis, D., Wilson, J. F., Spector, T., Probst-hensch, N., Wareham, N. J., Völzke, H., Henderson, J., Strachan, D. P., Brumpton, B. M., Hayward, C., Hall, I. P., Tobin, M. D. & Wain, L. V., 24 May 2021, In: Wellcome Open Research . 5, p. 111

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  • 2020

    Fine-mapping and cell-specific enrichment at corneal resistance 1 factor loci prioritize candidate causal regulatory variants

    Jiang, X., Dellepiane, N., Pairo-Castineira, E., Boutin, T., Kumar, Y., Bickmore, W. A. & Vitart, V., 11 Dec 2020, (E-pub ahead of print) In: Communications Biology.

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

    Folkersen, L., Gustafsson, S., Wang, Q., Hansen, D. H., Hedman, A. K., Schork, A. W., Page, K., Zhernakova, D. V., Wu, Y., Peters, J., Eriksson, N., Bergen, S. E., Boutin, T., Bretherick, A. D., Enroth, S., Kalnapenkis, A., Gådin, J. R., Suur, B., Chen, Y. & Matic, L. & 25 others, Gale, J. D., Lee, J., Zhang, W., Quazi, A., Ala-Korpela, M., Choi, S. H., Claringbould, A., Danesh, J., Davey Smith, G., o de Masi, F., Elmståhl, S., Engström, G., Fauman, E., Fernandez, C., Franke, L., Franks, P., Giedraitis, V., Haley, C., Hayward, C., Wilson, J. F., Wallentin, L., Butterworth, A. S., Holmes, M. V., Ingelsson, E. & Mälarstig, A., 16 Oct 2020, (E-pub ahead of print) In: Nature Metabolism.

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  • Characterisation of an inflammation-related epigenetic score and its association with cognitive ability

    Stevenson, A., McCartney, D., Hillary, R., Campbell, A., Morris, S., Bermingham, M., Walker, R., Evans, K. L., Boutin, T., Hayward, C., Mcrae, A. F., McColl, B., Spires-Jones, T., McIntosh, A., Deary, I. & Marioni, R. E., 27 Jul 2020, In: Clinical Epigenetics. 12, 113.

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  • Linking protein to phenotype with Mendelian Randomization detects 38 proteins with causal roles in human diseases and traits

    Bretherick, A. D., Canela-Xandri, O., Joshi, P. K., Clark, D. W., Rawlik, K., Boutin, T. S., Zeng, Y., Amador, C., Navarro, P., Rudan, I., Wright, A. F., Campbell, H., Vitart, V., Hayward, C., Wilson, J. F., Tenesa, A., Ponting, C. P., Baillie, K. & Haley, C., 6 Jul 2020, In: PLoS Genetics. 16, 7, e1008785.

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  • Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

    Ntalla, I., Weng, L.-C., Cartwright, J. H., Hall, A. W., Sveinbjornsson, G., Tucker, N. R., Choi, S. H., Chaffin, M. D., Roselli, C., Barnes, M. R., Mifsud, B., Warren, H. R., Hayward, C., Marten, J., Cranley, J. J., Concas, M. P., Gasparini, P., Boutin, T., Kolcic, I. & Rudan, I. & 165 others, Araujo, N. M., Lima-Costa, M. F., Ribeiro, A. L. P., Souza, R. P., Tarazona-Santos, E., Giedraitis, V., Ingelsson, E., Mahajan, A., Morris, A. P., Del Greco M, F., Foco, L., Gögele, M., Hicks, A. A., Lind, L., Lindgren, C. M., Sundström, J., Nelson, C. P., Riaz, M. B., Samani, N. J., Sinagra, G., Ulivi, S., Kähönen, M., Mishra, P. P., Mononen, N., Nikus, K., Caulfield, M. J., Dominiczak, A., Padmanabhan, S., Montasser, M. E., O'Connell, J. R., Ryan, K., Shuldiner, A. R., Aeschbacher, S., Conen, D., Risch, L., Thériault, S., Hutri-Kähönen, N., Lehtimäki, T., Lyytikäinen, L.-P., Raitakari, O. T., Barnes, C. L. K., Campbell, H., Joshi, P. K., Wilson, J., Isaacs, A., Kors, J. A., van Duijn, C. M., Huang, P. L., Gudnason, V., Harris, T. B., Launer, L. J., Smith, A. V., Bottinger, E. P., Loos, R. J. F., Nadkarni, G. N., Preuss, M. H., Correa, A., Mei, H., Wilson, J., Meitinger, T., Müller-Nurasyid, M., Peters, A., Waldenberger, M., Mangino, M., Spector, T. D., Rienstra, M., van de Vegte, Y. J., van der Harst, P., Verweij, N., Kääb, S., Schramm, K., Sinner, M. F., Strauch, K., Cutler, M. J., Fatkin, D., London, B., Olesen, M., Roden, D. M., Benjamin Shoemaker, M., Gustav Smith, J., Biggs, M. L., Bis, J. C., Brody, J. A., Psaty, B. M., Rice, K., Sotoodehnia, N., De Grandi, A., Fuchsberger, C., Pattaro, C., Pramstaller, P. P., Ford, I., Wouter Jukema, J., Macfarlane, P. W., Trompet, S., Dörr, M., Felix, S. B., Völker, U., Weiss, S., Havulinna, A. S., Jula, A., Sääksjärvi, K., Salomaa, V., Guo, X., Heckbert, S. R., Lin, H. J., Rotter, J. I., Taylor, K. D., Yao, J., de Mutsert, R., Maan, A. C., Mook-Kanamori, D. O., Noordam, R., Cucca, F., Ding, J., Lakatta, E. G., Qian, Y., Tarasov, K. V., Levy, D., Lin, H., Newton-Cheh, C. H., Lunetta, K. L., Murray, A. D., Porteous, D. J., Smith, B. H., Stricker, B. H., Uitterlinden, A., van den Berg, M. E., Haessler, J., Jackson, R. D., Kooperberg, C., Peters, U., Reiner, A. P., Whitsel, E. A., Alonso, A., Arking, D. E., Boerwinkle, E., Ehret, G. B., Soliman, E. Z., Avery, C. L., Gogarten, S. M., Kerr, K. F., Laurie, C. C., Seyerle, A. A., Stilp, A., Assa, S., Abdullah Said, M., Yldau van der Ende, M., Lambiase, P. D., Orini, M., Ramirez, J., Van Duijvenboden, S., Arnar, D. O., Gudbjartsson, D. F., Holm, H., Sulem, P., Thorleifsson, G., Thorolfsdottir, R. B., Thorsteinsdottir, U., Benjamin, E. J., Tinker, A., Stefansson, K., Ellinor, P. T., Jamshidi, Y., Lubitz, S. A. & Munroe, P. B., 21 May 2020, In: Nature Communications. 11, 1, p. 2542

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  • Insights into the genetic basis of retinal detachment

    UK Biobank Eye & Vision Consortium, 15 Feb 2020, In: Human Molecular Genetics. 29, 4, p. 689–702 14 p.

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  • Genome-Wide Analysis Identifies Two Susceptibility Loci for Positive Thyroid Peroxidase and Thyroglobulin Antibodies

    Matana, A., Boutin, T., Torlak, V., Brdar, D., Gunjača, I., Kolčić, I., Boraska Perica, V., Punda, A., Polašek, O., Barbalić, M., Hayward, C. & Zemunik, T., 8 Jan 2020, In: The Journal of Clinical Endocrinology & Metabolism (JCEM). 105, 3, dgz239.

    Research output: Contribution to journalArticlepeer-review

  • 2019

    An epigenome-wide association study of sex-specific chronological ageing

    McCartney, D. L., Zhang, F., Hillary, R., Zhang, Q., Stevenson, A. J., Walker, R. M., Bermingham, M. L., Boutin, T., Morris, S. W., Campbell, A., Murray, A. D., Whalley, H. C., Porteous, D. J., Hayward, C., Evans, K. L., Chandra, T., Deary, I. J., McIntosh, A. M., Yang, J. & Visscher, P. M. & 2 others, McRae, A. F. & Marioni, R. E., 31 Dec 2019, In: Genome Biology. 12, 1.

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  • Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

    International Glaucoma Genetics Consortium, UK Biobank Eye and Vision Consortium, NEIGHBORHOOD Consortium, Bonnemaijer, P., van Leeuwen, E. M., Iglesias, A. I., Gharahkhani, P., Vitart, V., Khawaja, A. P., Simcoe, M., Höhn, R., Cree, A. J., Igo, R. P., Gerhold-Ay, A., Wilson, J., Hayward, C. & Boutin, T., 27 Nov 2019, In: Communications Biology.

    Research output: Contribution to journalArticlepeer-review

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  • Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

    Tin, A., Marten, J., Halperin Kuhns, V. L., Li, Y., Wuttke, M., Kirsten, H., Sieber, K. B., Qiu, C., Gorski, M., Yu, Z., Giri, A., Sveinbjornsson, G., Li, M., Chu, A. Y., Hoppmann, A., O’Connor, L. J., Prins, B., Nutile, T., Noce, D. & Akiyama, M. & 208 others, Cocca, M., Ghasemi, S., van der Most, P. J., Horn, K., Xu, Y., Fuchsberger, C., Sedaghat, S., Afaq, S., Amin, N., Ärnlöv, J., Bakker, S. J. L., Bansal, N., Baptista, D., Bergmann, S., Biggs , M. L., Biino, G., Boerwinkle, E., Bottinger, E. P., Boutin, T. S., Brumat, M., Burkhardt, R., Campana, E., Campbell, A., Campbell, H., Carroll, R. J., Catamo, E., Chambers, J. C., Ciullo, M., Concas, M. P., Coresh, J., Corre, T., Cusi, D., Sala, C. F., de Borst, M. H., De Grandi, A., de Mutsert, R., de Vries, A. P. J., Delgado, G., Demirkan, A., Devuyst, O., Dittrich, K., Eckardt, K.-U., Ehret, G., Endlich, K., Evans, M. K., Gansevoort, R. T., Gasparini, P., Giedraitis, V., Gieger, C., Girotto, G., Gögele, M., Gordon, S. D., Gudbjartsson, D. F., Gudnason, V., German Chronic Kidney Disease Study, Haller, T., Hamet, P., Harris, T. B., Hayward, C., Hicks, A. A., Hofer, E., Holm, H., Huang, W., Hutri-Kähönen, N., Hwang, S.-J., Arfan Ikram, M., Lewis, R. M., Ingelsson, E., Jakobsdottir, J., Jonsdottir, I., Jonsson, H., Joshi, P. K., Josyula, N. S., Jung, B., Kähönen, M., Kamatani, Y., Kanai, M., Kerr, S. M., Kiess, W., Kleber, M. E., Koenig, W., Kooner, J. S., Körner, A., Kovacs, P., Krämer, B. K., Kronenberg, F., Kubo, M., Kühnel, B., La Bianca, M., Lange, L. A., Lehne, B., Lehtimäki, T., LifeLines Cohort Study, Liu, J., Loeffler, M., Loos, R. J. F., Lyytikäinen, L.-P., Mägi, R., Mahajan, A., Martin, N. G., März, W., Mascalzoni, D., Matsuda, K., Meisinger, C., Meitinger, T., Metspalu, A., Milaneschi, Y., V. A. Million Veteran Program, O'Donnell, C. J., Wilson, O. D., Gaziano, J. M., Mishra, P. P., Mohlke, K. L., Mononen, N., Montgomery, G. W., Mook-Kanamori, D. O., Müller-Nurasyid, M., Nadkarni, G. N., Nalls, M. A., Nauck, M., Nikus, K., Ning, B., Nolte, I. M., Noordam, R., O'Connell, J. R., Olafsson, I., Padmanabhan, S., Penninx, B. W. J. H., Perls, T., Peters, A., Pirastu, M., Pirastu, N., Pistis, G., Polasek, O., Ponte, B., Porteous, D. J., Poulain, T., Preuss, M. H., Rabelink, T. J., Raffield, L. M., Raitakari, O. T., Rettig, R., Rheinberger, M., Rice, K. M., Rizzi, F., Robino, A., Rudan, I., Krajcoviechova, A., Cifkova, R., Rueedi, R., Ruggiero, D., Ryan, K. A., Saba, Y., Salvi, E., Schmidt, H., Schmidt, R., Shaffer, C. M., Smith, A. V., Smith, B. H., Spracklen, C. N., Strauch, K., Stumvoll, M., Sulem, P., Tajuddin, S. M., Teren, A., Thiery, J., Thio, C. H. L., Thorsteinsdottir, U., Toniolo, D., Tönjes, A., Tremblay, J., Uitterlinden, A. G., Vaccargiu, S., van der Harst, P., van Duijn, C. M., Verweij, N., Völker, U., Vollenweider, P., Waeber, G., Waldenberger, M., Whitfield, J. B., Wild, S. H., Wilson, J. F., Yang, Q., Zhang, W., Zonderman, A. B., Bochud, M., Wilson, J. G., Pendergrass, S. A., Ho, K., Parsa, A., Pramstaller, P. P., Psaty, B. M., Böger, C. A., Snieder, H., Butterworth, A. S., Okada, Y., Edwards, T. L., Stefansson, K., Susztak, K., Scholz, M., Heid, I. M., Hung, A. M., Teumer, A., Pattaro, C., Woodward, O. M., Vitart, V. & Köttgen, A., Oct 2019, In: Nature Genetics. 51, 10, p. 1459–1474

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  • An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort

    Kerr, S., Klaric, L., Halachev, M., Hayward, C., Boutin, T., Meynert, A. M., Semple, C. A., Tuiskula, A. M., Swan, H., Santoyo-Lopez, J., Vitart, V., Haley, C., Dean, J., Miedzybrodzka, Z., Aitman, T. J. & Wilson, J. F., 29 Jul 2019, In: Scientific Reports. 9, 10964.

    Research output: Contribution to journalArticlepeer-review

    Open Access
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  • Genetic variants in the ST6GAL1 gene are associated with thyroglobulin plasma level in healthy individuals

    Matana, A., Popović, M., Boutin, T., Torlak Lovrić, V., Brdar, D., Gunjača, I., Kolčić, I., Boraska Perica, V., Punda, A., Rudan, I., Polašek, O., Barbalić, M., Hayward, C. & Zemunik, T., 3 Jun 2019, In: Thyroid Journal Program.

    Research output: Contribution to journalArticlepeer-review

    Open Access
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  • A catalog of genetic loci associated with kidney function from analyses of a million individuals

    Wuttke, M., Li, Y., Li, M., Sieber, K. B., Feitosa, M. F., Gorski, M., Tin, A., Wang, L., Chu, A. Y., Hoppmann, A., Kirsten, H., Giri, A., Chai, J. F., Sveinbjornsson, G., Tayo, B. O., Nutile, T., Fuchsberger, C., Marten, J., Cocca, M. & Ghasemi, S. & 199 others, Xu, Y., Horn, K., Noce, D., van der Most, P. J., Sedaghat, S., Yu, Z., Akiyama, M., Afaq, S., Ahluwalia, T. S., Almgren, P., Amin, N., Ärnlöv, J., Bakker, S. J. L., Bansal, N., Baptista, D., Bergmann, S., Biggs , M. L., Biino, G., Boehnke, M., Boerwinkle, E., Boissel, M., Bottinger, E. P., Boutin, T., Brenner, H., Brumat, M., Campbell, A., Campbell, H., Hayward, C., Joshi, P. K., Kerr, S., LifeLines Cohort Study, Lim, S.-C., Lind, L., Lindgren, C. M., Liu, J., Liu, J., Loeffler, M., Loos, R. J. F., Lucae, S., Lukas, M. A., Lyytikäinen, L.-P., Mägi, R., Magnusson, P. K. E., Mahajan, A., Martin, N. G., Martins, J., März, W., Mascalzoni, D., Matsuda, K., Meisinger, C., Meitinger, T., Melander, O., Metspalu, A., Mikaelsdottir, E. K., Milaneschi, Y., Miliku, K., Mishra, P. P., V. A. Million Veteran Program, Mohlke, K. L., Montgomery, G. W., Mychaleckyj, J. C., Nadkarni, G. N., Nalls, M. A., Nauck, M., Nikus, K., Ning, B., Nolte, I. M., Noordam, R., O’Connell, J. R., O'Donoghue, M. L., Olafsson, I., Oldehinkel, A. J., Orho-Melander, M., Ouwehand, W. H., Padmanabhan, S., Palmer, N. D., Palsson, R., Penninx, B. W. J. H., Perls, T., Perola, M., Pirastu, M., Pirastu, N., Pistis, G., Podgornaia, A. I., Polasek, O., Ponte, B., Porteous, D. J., Poulain, T., Pramstaller, P. P., Preuss, M. H., Prins, B. P., Province, M. A., Rabelink, T. J., Raffield, L. M., Raitakari, O. T., Reilly, D. F., Rettig, R., Rheinberger, M., Rice, K. M., Ridker, P. M., Rivadeneira, F., Rizzi, F., Roberts, D. J., Robino, A., Rossing, P., Rudan, I., Rueedi, R., Ruggiero, D., Ryan, K. A., Saba, Y., Sabanayagam, C., Salomaa, V., Salvi, E., Saum, K.-U., Schmidt, H., Schmidt, R., Schöttker, B., Schulz, C.-A., Schupf, N., Shaffer, C. M., Shi, Y., Smith, A. V., Smith, B. H., Soranzo, N., Spracklen, C. N., Strauch, K., Stringham, H. M., Stumvoll, M., Svensson, P. O., Szymczak, S., Tai, E.-S., Tajuddin, S. M., Tan, N. Y. Q., Taylor, K. D., Teren, A., Tham, Y.-C., Thiery, J., Thio, C. H. L., Thomsen, H., Thorleifsson, G., Toniolo, D., Tönjes, A., Tremblay, J., Tzoulaki, I., Uitterlinden, A. G., Vaccargiu, S., van Dam, R. M., van der Harst, P., van Duijn, C. M., Velez Edwards, D. R., Verweij, N., Vogelezang, S., Völker, U., Vollenweider, P., Waeber, G., Waldenberger, M., Wallentin, L., Wang, Y. X., Wang, C., Waterworth, D. M., Wei, W. B., White, H., Whitfield, J. B., Wild, S. H., Wilson, J. F., Wojczynski, M. K., Wong, C., Wong, T.-Y., Xu, L., Yang, Q., Yasuda, M., Yerges-Armstrong, L. M., Zhang, W., Zonderman, A. B., Rotter, J. I., Bochud, M., Psaty, B. M., Vitart, V., Wilson, J. G., Dehghan, A., Parsa, A., Chasman, D. I., Ho, K., Morris, A. P., Devuyst, O., Akilesh, S., Pendergrass, S. A., Sim, X., Böger, C. A., Okada, Y., Edwards, T. L., Snieder, H., Stefansson, K., Hung, A. M., Heid, I. M., Scholz, M., Teumer, A., Köttgen, A. & Pattaro, C., Jun 2019, In: Nature Genetics. 51, 6, p. 957-972 16 p.

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  • Publisher Correction: Parent of origin genetic effects on methylation in humans are common and influence complex trait variation

    Zeng, Y., Amador, C., Xia, C., Marioni, R., Sproul, D., Walker, R. M., Morris, S. W., Bretherick, A., Canela-Xandri, O., Boutin, T. S., Clark, D. W., Campbell, A., Rawlik, K., Hayward, C., Nagy, R., Tenesa, A., Porteous, D. J., Wilson, J. F., Deary, I. J. & Evans, K. L. & 3 others, McIntosh, A. M., Navarro, P. & Haley, C. S., 1 May 2019, In: Nature Communications. 10, 1, p. 2069

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  • Genome-wide association meta-analysis for total thyroid hormone levels in Croatian population

    Gunjača, I., Matana, A., Boutin, T., Torlak, V., Punda, A., Polašek, O., Boraska Perica, V., Hayward, C., Zemunik, T. & Barbalić, M., May 2019, In: Journal of Human Genetics. 64, 5, p. 473-480 8 p.

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  • Parent of origin genetic effects on methylation in humans are common and influence complex trait variation

    Zeng, Y., Amador, C., Xia, C., Marioni, R., Sproul, D., Walker, R. M., Morris, S. W., Bretherick, A., Canela-Xandri, O., Boutin, T. S., Clark, D. W., Campbell, A., Rawlik, K., Hayward, C., Nagy, R., Tenesa, A., Porteous, D. J., Wilson, J. F., Deary, I. J. & Evans, K. L. & 3 others, McIntosh, A. M., Navarro, P. & Haley, C. S., 27 Mar 2019, In: Nature Communications. 10, 13 p., 1383.

    Research output: Contribution to journalArticlepeer-review

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  • Genome-wide meta-analysis identifies novel loci associated with free triiodothyronine and thyroid-stimulating hormone

    Popović, M., Matana, A., Torlak, V., Boutin, T., Brdar, D., Gunjača, I., Kaličanin, D., Kolčić, I., Boraska Perica, V., Punda, A., Polašek, O., Barbalić, M., Hayward, C. & Zemunik, T., 7 Mar 2019, (E-pub ahead of print) In: Journal of Endocrinological Investigation.

    Research output: Contribution to journalArticlepeer-review

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  • 2018

    Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

    Evangelou, E., Warren, H. R., Mosen-Ansorena, D., Mifsud, B., Pazoki, R., Gao, H., Ntritsos, G., Dimou, N., Cabrera, C. P., Karaman, I., Ng, F. L., Evangelou, M., Witkowska, K., Tzanis, E., Hellwege, J. N., Giri, A., Velez Edwards, D. R., Sun, Y. V., Cho, K. & Gaziano, J. M. & 30 others, Wilson, P. W. F., Tsao, P. S., Kovesdy, C. P., Esko, T., Mägi, R., Milani, L., Boutin, T., Zhao, J.-H., Morris, A. P., Campbell, A., Campbell, H., Davies, G., Deary, I. J., Gow, A. J., Harris, S. E., Johnson, A. D., Joshi, P. K., Liewald, D. C. M., Lopez, L. M., Marten, J., Morris, A. P., Pattie, A., Polasek, O., Rudan, I., Starr, J. M., Vitart, V., Wild, S. H., Wilson, J. F., Wright, A. F. & Hayward, C., 14 Nov 2018, (E-pub ahead of print) In: Nature Genetics.

    Research output: Contribution to journalComment/debate

  • Genetic analysis of over one million people identifies 535 new loci associated with blood pressure traits

    Evangelou, E., Warren, H. R., Mosen-Ansorena, D., Mifsud, B., Pazoki, R., Gao, H., Ntritsos, G., Dimou, N., Cabrera-Cardenas, C., Karaman, I., Liang Ng, F., Evangelou, M., Witkowska, K., Tzanis, E., Hellwege, J. N., Giri, A., Velez Edwards, D. R., Sun, Y. V., Cho, K. & Gaziano, J. M. & 260 others, Wilson, P. W. F., Tsao, P. S., Kovesdy, C. P., Esko, T., Mägi, R., Milani, L., Almgren, P., Boutin, T., Debette, S., Ding, J., Giulianini, F., Holliday, E. G., Jackson, A. U., Li-Gao, R., Lin, W.-Y., Luan, J., Mangino, M., Oldmeadow, C., Prins, B. P., Qian, Y., Sargurupremraj, M., Shah, N., Surendran, P., Theriault, S., Verweij, N., Willems, S. M., Zhao, J. H., Amouyel, P., Connell, J. M. C., de Mutsert, R., Doney, A. S. F., Farrall, M., Menni, C., Morris, A., Noordam, R., Paré, G., Poulter, N. R., Shields, D. C., Stanton, A. V., Thom, S., Abecasis, G. R., Amin, N., Arking, D. E., Ayers, K. L., Barbieri, C. M., Batini, C., Bis, J. C., Blake, T., Bochud, M., Boehnke, M., Boerwinkle, E., Boomsma, D. I., Bottinger, E. P., Braund, P. S., Brumat, M., Campbell, A., Campbell, H., Chakravarti, A., Chambers, J. C., Chauhan, G., Ciullo, M., Cocca, M., Collins, F. S., Cordell, H. J., Davies, G., de Borst, M. H., Geus, E. J. C., Deary, I., Deelen, J., Del Greco, F. M., Demirkale, Y., Dörr, M., Ehret, G. B., Elosua, R., Enroth, S., Erzurumluoglu, A. M., Ferreira, T., Frånberg, M., Franco, O. H., Gandin, I., Gasparini, P., Giedraitis, V., Gieger, C., Girotto, G., Goel, A., Gow, A. J., Gudnason, V., Guo, X., Gyllensten, U., Hamsten, A., Harris, T. B., Harris, S., Hartman, C. A., Havulinna, A. S., Hicks, A. A., Hofer, E., Hofman, A., Hottenga, J.-J., Huffman, J. E., Hwang, S.-J., Ingelsson, E., James, A. L., Jansen, R., Jarvelin, M.-R., Joehanes, R., Johansson, Å., Johnson, A. D., Joshi, P., Jousilahti, P., Jukema, J. W., Jula, A., Kähönen, M., Kathiresan, S., Keavney, B. D., Khaw, K. T., Knekt, P., Knight, J., Kolcic, I., Kooner, J. S., Koskinen, S., Kristiansson, K., Kutalik, Z., Laan, M., Larson, M., Launer, L. J., Lehne, B., Lehtimäki, T., Liewald, D., Lin, L., Lind, L., Lindgren, C. M., Liu, Y., Loos, R. J., Lopez, L., Lu, Y., Lyytikäinen, L.-P., Mahajan, A., Mamasoula, C., Marrugat, J., Marten, J., Milaneschi, Y., Morgan, A., Morris, A. P., Morrison, A. C., Munson, P. J., Nalls, M. A., Nandakumar, P., Nelson, C. P., Niiranen, T., Nolte, I. M., Nutile, T., Oldehinkel, A. J., Oostra, B. A., O'Reilly, P. F., Org, E., Padmanabhan, S., Palmas, W., Palotie, A., Pattie, A., Penninx, B. W. J. H., Perola, M., Peters, A., Polasek, O., Pramstaller, P. P., Tri Nguyen, Q., Raitakari, O. T., Ren, M., Rettig, R., Rice, K. M., Ridker, P. M., Ried, J. S., Riese, H., Ripatti, S., Robino, A., Rose, L. M., Rotter, J. I., Rudan, I., Ruggiero, D., Saba, Y., Sala, C. F., Salomaa, V., Samani, N. J., Sarin, A.-P., Schmidt, R., Schmidt, H., Shrine, N. R. G., Siscovick, D. S., Smith, A. V., Snieder, H., Sõber, S., Sorice, R., Starr, J., Stott, D. J., Strachan, D. P., Strawbridge, R. J., Sundstrom, J., Swertz, M. A., Taylor, K. D., Teumer, A., Tobin, M. D., Tomaszewski, M., Toniolo, D., Traglia, M., Trompet, S., Tuomilehto, J., Tzourio, C., Uitterlinden, A. G., Vaez, A., van der Most, P. J., van Duijn, C. M., Vergnaud, A.-C., Verwoert, G. C., Vitart, V., Völker, U., Vollenweider, P., Vuckovic, D., Watkins, H., Wild, S., Willemsen, G., Wilson, J., Wrightl, A. F., Yao, J., Zemunik, T., Zhang, W., Attia, J., Butterworth, A. S., Chasman, D. I., Conen, D., Cucca, F., Danesh, J., Hayward, C., Howson, J. M., Laakso, M., Lakatta, E. G., Langenberg, C., Melander, O., Mook-Kanamori, D. O., Palmer, C. N. A., Risch, L., Scott, R. A., Scott, R. J., Sever, P., Spector, T. D., van der Harst, P., Wareham, N. J., Zeggini, E., Levy, D., Munroe, P. B., Newton-Cheh, C., Brown, M. J., Metspalu, A., Hung, A. M., O'Donnell, C. J., Edwards, T. L., Psaty, B. M., Tzoulaki, I., Barnes, M. R., Wain, L. V., Elliott, P. & Caulfield, M. J., 17 Sept 2018, In: Nature Genetics. 50, p. 1412–1425

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  • Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

    Iglesias, A. I., Vitart, V., Li, X., Yazar, S., Nag, A., Khawaja, A. P., Polašek, O., Siscovick, D., Mitchell, P., Chung Tham, Y., Haines, J. L., Kearns, L. S., Hayward, C., Shi, Y., van Leeuwen, E. M., Taylor, K. D., Blue Mountains Eye Study—GWAS group, Bonnemaijer, P., Rotter, J. I. & Martin, N. G. & 33 others, Zeller, T., Mills, R. A., Souzeau, E., Staffieri, S. E., Jonas, J. B., Schmidtmann, I., Boutin, T., Kang, J. H., Lucas, S. E. M., Wong, T. Y., Beutel, M. E., NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), Uitterlinden, A. G., Vithana, E. N., Foster, P. J., Hysi, P. G., Hewitt, A. W., Khor, C. C., Pasquale, L. R., Montgomery, G. W., Klaver, C. C. W., Aung, T., Pfeiffer, N., Mackey, D. A., Hammond, C. J., Cheng, C.-Y., Craig, J. E., Rabinowitz, Y. S., Wiggs, J. L., Burdon, K. P., van Duijn, C. M. & MacGregor, S., 14 May 2018, In: Nature Communications. 9, 1864.

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  • Genome-wide meta-analysis identifies novel gender specific loci associated with thyroid antibodies level in Croatians

    Matana, A., Popović, M., Boutin, T., Torlak, V., Brdar, D., Gunjača, I., Kolčić, I., Boraska Perica, V., Punda, A., Polašek, O., Hayward, C., Barbalić, M. & Zemunik, T., 18 Apr 2018, (E-pub ahead of print) In: Genomics.

    Research output: Contribution to journalArticlepeer-review

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  • Genome-wide meta-analysis identifies novel loci associated with parathyroid hormone level

    Matana, A., Brdar, D., Torlak, V., Boutin, T., Popovic, M., Gunjaca, I., Kolcic, I., Perica, V. B., Punda, A., Polasek, O., Barbalic, M., Hayward, C. & Zemunik, T., 11 Apr 2018, In: Molecular Medicine. 24, 9 p., 15.

    Research output: Contribution to journalArticlepeer-review

    Open Access
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  • 2017

    Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity

    Joshi, P. K., Pirastu, N., Kentistou, K. A., Fischer, K., Hofer, E., Schraut, K. E., Clark, D. W., Nutile, T., Barnes, C. L. K., Timmers, P. R. H. J., Shen, X., Gandin, I., Mcdaid, A. F., Hansen, T. F., Gordon, S. D., Giulianini, F., Boutin, T. S., Abdellaoui, A., Zhao, W. & Medina-Gomez, C. & 93 others, Bartz, T. M., Trompet, S., Lange, L. A., Raffield, L., van der Spek, A., Galesloot, T. E., Proitsi, P., Yanek, L. R., Bielak, L. F., Payton, A., Murgia, F., Concas, M. P., Biino, G., Tajuddin, S. M., Seppälä, I., Amin, N., Boerwinkle, E., Børglum, A. D., Campbell, A., Demerath, E. W., Demuth, I., Faul, J. D., Ford, I., Gialluisi, A., Gögele, M., Graff, M., Hingorani, A., Hottenga, J.-J., Hougaard, D. M., Hurme, M. A., Ikram, M. A., Jylhä, M., Kuh, D., Ligthart, L., Lill, C. M., Lindenberger, U., Lumley, T., Mägi, R., Marques-Vidal, P., Medland, S. E., Milani, L., Nagy, R., Ollier, W. E. R., Peyser, P. A., Pramstaller, P. P., Ridker, P. M., Rivadeneira, F., Ruggiero, D., Saba, Y., Schmidt, R., Schmidt, H., Slagboom, P. E., Smith, B. H., Smith, J. A., Sotoodehnia, N., Steinhagen-Thiessen, E., van Rooij, F. J. A., Verbeek, A. L., Vermeulen, S. H., Vollenweider, P., Wang, Y., Werge, T., Whitfield, J. B., Zonderman, A. B., Lehtimäki, T., Evans, M. K., Pirastu, M., Fuchsberger, C., Bertram, L., Pendleton, N., Kardia, S. L. R., Ciullo, M., Becker, D. M., Wong, A., Psaty, B. M., van Duijn, C. M., Wilson, J. G., Jukema, J. W., Kiemeney, L., Uitterlinden, A. G., Franceschini, N., North, K. E., Weir, D. R., Metspalu, A., Boomsma, D. I., Hayward, C., Chasman, D., Martin, N. G., Sattar, N., Campbell, H., Esko, T., Kutalik, Z. & Wilson, J. F., 13 Oct 2017, In: Nature Communications. 8, 13 p., 910.

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  • Genome-wide regional heritability mapping identifies a locus within the TOX2 gene associated with Major Depressive Disorder

    Zeng, Y., Navarro, P., Shirali, M., Howard, D., Adams, M., Hall, L., Clarke, T.-K., Thomson, P., Smith, B. H., Murray, A., Padmanabhan, S., Hayward, C., Boutin, T., MacIntyre, D., Lewis, C. M., Wray, N. R., Mehta, D., Penninx, B., Milaneschi, Y. & Baune, B. T. & 19 others, Air, T., Hottenga, J.-J., Mbarek, H., Castelao, E., Pistis, G., Schulze, T. G., Streit, F., Forstner, A. J., Byrne, E. M., Martin, N. G., Breen, G., Müller-Myhsok, B., Lucae, S., Kloiber, S., Domenici, E., Deary, I., Porteous, D., Haley, C. & McIntosh, A., 1 Sept 2017, In: Biological Psychiatry. 82, 5, p. 312-321

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  • Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

    Day, F. R., Thompson, D. J., Helgason, H., Chasman, D. I., Finucane, H., Sulem, P., Ruth, K. S., Whalen, S., Sarkar, A. K., Albrecht, E., Altmaier, E., Amini, M., Barbieri, C. M., Boutin, T., Campbell, A., Demerath, E., Giri, A., He, C., Hottenga, J. J. & Karlsson, R. & 196 others, Kolcic, I., Loh, P.-R., Lunetta, K. L., Mangino, M., Marco, B., Mcmahon, G., Medland, S. E., Nolte, I. M., Noordam, R., Nutile, T., Paternoster, L., Perjakova, N., Porcu, E., Rose, L. M., Schraut, K. E., Segrè, A. V., Smith, A. V., Stolk, L., Teumer, A., Andrulis, I. L., Bandinelli, S., Beckmann, M. W., Benitez, J., Bergmann, S., Bochud, M., Boerwinkle, E., Bojesen, S. E., Bolla, M. K., Brand, J. S., Brauch, H., Brenner, H., Broer, L., Brüning, T., Buring, J. E., Campbell, H., Catamo, E., Chanock, S., Chenevix-trench, G., Corre, T., Couch, F. J., Cousminer, D. L., Cox, A., Crisponi, L., Czene, K., Davey Smith, G., De Geus, E. J. C. N., De Mutsert, R., De Vivo, I., Dennis, J., Devilee, P., Dos-santos-silva, I., Dunning, A. M., Eriksson, J. G., Fasching, P. A., Fernández-rhodes, L., Ferrucci, L., Flesch-janys, D., Franke, L., Gabrielson, M., Gandin, I., Giles, G. G., Grallert, H., Gudbjartsson, D. F., Guénel, P., Hall, P., Hallberg, E., Hamann, U., Harris, T. B., Hartman, C. A., Heiss, G., Hooning, M. J., Hopper, J. L., Hu, F., Hunter, D. J., Ikram, M. A., Im, H. K., Järvelin, M.-R., Joshi, P. K., Karasik, D., Kellis, M., Kutalik, Z., Lachance, G., Lambrechts, D., Langenberg, C., Launer, L. J., Laven, J. S. E., Lenarduzzi, S., Li, J., Lind, P. A., Lindstrom, S., Liu, Y., Luan, J., Mägi, R., Mannermaa, A., Mbarek, H., Mccarthy, M. I., Meisinger, C., Meitinger, T., Menni, C., Metspalu, A., Michailidou, K., Milani, L., Milne, R. L., Montgomery, G. W., Mulligan, A. M., Nalls, M. A., Navarro, P., Nevanlinna, H., Nyholt, D. R., Oldehinkel, A. J., O'mara, T. A., Padmanabhan, S., Palotie, A., Pedersen, N., Peters, A., Peto, J., Pharoah, P. D. P., Pouta, A., Radice, P., Rahman, I., Ring, S. M., Robino, A., Rosendaal, F. R., Rudan, I., Rueedi, R., Ruggiero, D., Sala, C. F., Schmidt, M. K., Scott, R. A., Shah, M., Sorice, R., Southey, M. C., Sovio, U., Stampfer, M., Steri, M., Strauch, K., Tanaka, T., Tikkanen, E., Timpson, N. J., Traglia, M., Truong, T., Tyrer, J. P., Uitterlinden, A. G., Edwards, D. R. V., Vitart, V., Völker, U., Vollenweider, P., Wang, Q., Widen, E., Van Dijk, K. W., Willemsen, G., Winqvist, R., Wolffenbuttel, B. H. R., Zhao, J. H., Zoledziewska, M., Zygmunt, M., Alizadeh, B. Z., Boomsma, D. I., Ciullo, M., Cucca, F., Esko, T., Franceschini, N., Gieger, C., Gudnason, V., Hayward, C., Kraft, P., Lawlor, D. A., Magnusson, P. K. E., Martin, N. G., Mook-kanamori, D. O., Nohr, E. A., Polasek, O., Porteous, D., Price, A. L., Ridker, P. M., Snieder, H., Spector, T. D., Stöckl, D., Toniolo, D., Ulivi, S., Visser, J. A., Völzke, H., Wareham, N. J., Wilson, J. F., Spurdle, A. B., Thorsteindottir, U., Pollard, K. S., Easton, D. F., Tung, J. Y., Chang-claude, J., Hinds, D., Murray, A., Murabito, J. M., Stefansson, K., Ong, K. K. & Perry, J. R. B., Jun 2017, In: Nature Genetics. 49, p. 834-841 7 p.

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  • Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants

    Nagy, R., Boutin, T. S., Marten, J., Huffman, J. E., Kerr, S. M., Campbell, A., Evenden, L., Gibson, J., Amador, C., Howard, D. M., Navarro, P., Morris, A., Deary, I. J., Hocking, L. J., Padmanabhan, S., Smith, B. H., Joshi, P., Wilson, J. F., Hastie, N. D. & Wright, A. F. & 5 others, McIntosh, A. M., Porteous, D. J., Haley, C. S., Vitart, V. & Hayward, C., 7 Mar 2017, In: Genome Medicine. 9, 14 p., 23.

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  • New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

    Springelkamp, H., Iglesias, A. I., Mishra, A., Höhn, R., Wojciechowski, R., Khawaja, A. P., Nag, A., Wang, Y. X., Wang, J. J., Cuellar-partida, G., Gibson, J., Cooke Bailey, J. N., Vithana, E. N., Gharahkhani, P., Boutin, T., Ramdas, W. D., Zeller, T., Luben, R. N., Yonova-doing, E. & Viswanathan, A. C. & 64 others, Yazar, S., Cree, A. J., Haines, J. L., Koh, J. Y., Souzeau, E., Wilson, J. F., Amin, N., Müller, C., Venturini, C., Kearns, L. S., Hee Kang, J., Consortium, N., Tham, Y. C., Zhou, T., Van Leeuwen, E. M., Nickels, S., Sanfilippo, P., Liao, J., Linde, H. V. D., Zhao, W., Van Koolwijk, L. M. E., Zheng, L., Rivadeneira, F., Baskaran, M., Van Der Lee, S. J., Perera, S., De Jong, P. T. V. M., Oostra, B. A., Uitterlinden, A. G., Fan, Q., Hofman, A., Shyong Tai, E., Vingerling, J. R., Sim, X., Wolfs, R. C. W., Teo, Y. Y., Lemij, H. G., Khor, C. C., Willemsen, R., Lackner, K. J., Aung, T., Jansonius, N. M., Montgomery, G., Wild, P. S., Young, T. L., Burdon, K. P., Hysi, P. G., Pasquale, L. R., Wong, T. Y., Klaver, C. C. W., Hewitt, A. W., Jonas, J. B., Mitchell, P., Lotery, A. J., Foster, P. J., Vitart, V., Pfeiffer, N., Craig, J. E., Mackey, D. A., Hammond, C. J., Wiggs, J. L., Cheng, C.-Y., Van Duijn, C. M. & Macgregor, S., 15 Jan 2017, In: Human Molecular Genetics. p. ddw399

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  • 2016

    When do myopia genes have their effect? Comparison of genetic risks between children and adults

    CREAM Consortium, Tideman, J. W. L., Fan, Q., Polling, J. R., Guo, X., Yazar, S., Khawaja, A., Höhn, R., Lu, Y., Jaddoe, V. W. V., Yamashiro, K., Yoshikawa, M., Gerhold-Ay, A., Nickels, S., Zeller, T., He, M., Boutin, T., Bencic, G., Vitart, V. & Mackey, D. A. & 6 others, Foster, P. J., MacGregor, S., Williams, C., Saw, S. M., Guggenheim, J. A. & Klaver, C. C. W., Dec 2016, In: Genetic Epidemiology. 40, 8

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  • 2015

    Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

    Day, F. R., Ruth, K. S., Thompson, D. J., Lunetta, K. L., Pervjakova, N., Chasman, D. I., Stolk, L., Finucane, H. K., Sulem, P., Bulik-Sullivan, B., Esko, T., Johnson, A. D., Elks, C. E., Franceschini, N., He, C., Altmaier, E., Brody, J. A., Franke, L. L., Huffman, J. E. & Keller, M. F. & 32 others, McArdle, P. F., Nutile, T., Porcu, E., Robino, A., Rose, L. M., Schick, U. M., Smith, J. A., Teumer, A., Traglia, M., Vuckovic, D., Yao, J., Zhao, W., Albrecht, E., Amin, N., Corre, T., Hottenga, J.-J., Mangino, M., Smith, A. V., Boutin, T. S., Campbell, A., Campbell, H., Figueroa, J., Pirastu, N., Pirie, A., Polasek, O., Porteous, D., Rudan, I., Wilson, J. F., Wright, A. F., Hayward, C., PRACTICAL Consortium & Tomlinson, I., Nov 2015, In: Nature Genetics. 47, 11, p. 1294-303 10 p.

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