Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations

Autor: Arthur Gilly, Lucija Klaric, Young-Chan Park, Grace Png, Andrei Barysenka, Joseph A. Marsh, Emmanouil Tsafantakis, Maria Karaleftheri, George Dedoussis, James F. Wilson, Eleftheria Zeggini

Publikováno v: Molecular Metabolism, Vol 61, Iss , Pp 101509- (2022)

Objective: Deep sequencing offers unparalleled access to rare variants in human populations. Understanding their role in disease is a priority, yet prohibitive sequencing costs mean that many cohorts lack the sample size to discover these effects on

Externí odkaz: https://doaj.org/article/15f2ee78d2c847708e47b9c89c0c5823

Standing genetic variation affects phenotypic heterogeneity in an SCN5A-mutation founder population with excess sudden cardiac death

Autor: Aaron Isaacs, Andrei Barysenka, Rachel M.A. ter Bekke, Apollonia T.J.M. Helderman-van den Enden, Arthur van den Wijngaard, Paul G.A. Volders, Monika Stoll

Publikováno v: Heart Rhythm. 20(5):720-727

Background: The Worm Study, ascertained from a multigeneration pedigree segregating a single amino acid deletion in SCN5A (c.4850_4852delTCT, p.(Phe1617del), rs749697698), is characterized by substantial phenotypic heterogeneity and overlap of sudden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2af02934c25ef590ae5955f7c701c5ad
https://doi.org/10.1016/j.hrthm.2023.02.004

Analysis of the genomic architecture of a complex trait locus in hypertensive rat models links Tmem63c to kidney damage

Autor: Angela Schulz, Nicola Victoria Müller, Nina Anne van de Lest, Andreas Eisenreich, Martina Schmidbauer, Andrei Barysenka, Bettina Purfürst, Anje Sporbert, Theodor Lorenzen, Alexander M Meyer, Laura Herlan, Anika Witten, Frank Rühle, Weibin Zhou, Emile de Heer, Marion Scharpfenecker, Daniela Panáková, Monika Stoll, Reinhold Kreutz

Publikováno v: eLife, Vol 8 (2019)

Unraveling the genetic susceptibility of complex diseases such as chronic kidney disease remains challenging. Here, we used inbred rat models of kidney damage associated with elevated blood pressure for the comprehensive analysis of a major albuminur

Externí odkaz: https://doaj.org/article/3ce65e8761e146108e0f630955c54002

Identifying causal serum protein-cardiometabolic trait relationships using whole genome sequencing

Autor: Grace Png, Raffaele Gerlini, Konstantinos Hatzikotoulas, Andrei Barysenka, N William Rayner, Lucija Klarić, Birgit Rathkolb, Juan A Aguilar-Pimentel, Jan Rozman, Helmut Fuchs, Valerie Gailus-Durner, Emmanouil Tsafantakis, Maria Karaleftheri, George Dedoussis, Claus Pietrzik, James F Wilson, Martin Hrabe de Angelis, Christoph Becker-Pauly, Arthur Gilly, Eleftheria Zeggini

Publikováno v: Hum. Mol. Genet., DOI: 10.1093/hmg/ddac275 (2022)
Png, G, Gerlini, R, Hatzikotoulas, K, Barysenka, A, Rayner, N W, Klarić, L, Rathkolb, B, Aguilar-Pimentel, J A, Rozman, J, Fuchs, H, Gailus-Durner, V, Tsafantakis, E, Karaleftheri, M, Dedoussis, G, Pietrzik, C, Wilson, J F, Angelis, M H, Becker-Pauly, C, Gilly, A & Zeggini, E 2022, ' Identifying causal serum protein-cardiometabolic trait relationships using whole genome sequencing ', Human Molecular Genetics . https://doi.org/10.1093/hmg/ddac275

Cardiometabolic diseases, such as type 2 diabetes and cardiovascular disease, have a high public health burden. Understanding the genetically determined regulation of proteins that are dysregulated in disease can help to dissect the complex biology u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2f316b3891f3dbb04c249127652ce7a
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66664

Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

Autor: Cindy G. Boer, Konstantinos Hatzikotoulas, Lorraine Southam, Lilja Stefánsdóttir, Yanfei Zhang, Rodrigo Coutinho de Almeida, Tian T. Wu, Jie Zheng, April Hartley, Maris Teder-Laving, Anne Heidi Skogholt, Chikashi Terao, Eleni Zengini, George Alexiadis, Andrei Barysenka, Gyda Bjornsdottir, Maiken E. Gabrielsen, Arthur Gilly, Thorvaldur Ingvarsson, Marianne B. Johnsen, Helgi Jonsson, Margreet Kloppenburg, Almut Luetge, Sigrun H. Lund, Reedik Mägi, Massimo Mangino, Rob R.G.H.H. Nelissen, Manu Shivakumar, Julia Steinberg, Hiroshi Takuwa, Laurent F. Thomas, Margo Tuerlings, George C. Babis, Jason Pui Yin Cheung, Jae Hee Kang, Peter Kraft, Steven A. Lietman, Dino Samartzis, P. Eline Slagboom, Kari Stefansson, Unnur Thorsteinsdottir, Jonathan H. Tobias, André G. Uitterlinden, Bendik Winsvold, John-Anker Zwart, George Davey Smith, Pak Chung Sham, Gudmar Thorleifsson, Tom R. Gaunt, Andrew P. Morris, Ana M. Valdes, Aspasia Tsezou, Kathryn S.E. Cheah, Shiro Ikegawa, Kristian Hveem, Tõnu Esko, J. Mark Wilkinson, Ingrid Meulenbelt, Ming Ta Michael Lee, Joyce B.J. van Meurs, Unnur Styrkársdóttir, Eleftheria Zeggini, John Loughlin, Nigel Arden, Fraser Birrell, Andrew Carr, Panos Deloukas, Michael Doherty, Andrew W. McCaskie, William E.R. Ollier, Ashok Rai, Stuart H. Ralston, Tim D. Spector, Gillian A. Wallis, Amy E. Martinsen, Cristen Willer, Egil Andreas Fors, Ingunn Mundal, Knut Hagen, Kristian Bernhard Nilsen, Marie Udnesseter Lie, Sigrid Børte, Ben Brumpton, Jonas Bille Nielsen, Lars G. Fritsche, Wei Zhou, Ingrid Heuch, Kjersti Storheim, Evangelos Tyrpenou, Athanasios Koukakis, Dimitrios Chytas, Dimitrios Stergios Evangelopoulos, Chronopoulos Efstathios, Spiros Pneumaticos, Vasileios S. Nikolaou, Konstantinos Malizos, Lydia Anastasopoulou, Goncalo Abecasis, Aris Baras, Michael Cantor, Giovanni Coppola, Andrew Deubler, Aris Economides, Luca A. Lotta, John D. Overton, Jeffrey G. Reid, Alan Shuldiner, Katia Karalis, Katherine Siminovitch, Christina Beechert, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Michael Lattari, Alexander Lopez, Thomas D. Schleicher, Maria Sotiropoulos Padilla, Louis Widom, Sarah E. Wolf, Manasi Pradhan, Kia Manoochehri, Xiaodong Bai, Suganthi Balasubramanian, Boris Boutkov, Gisu Eom, Lukas Habegger, Alicia Hawes, Olga Krasheninina, Rouel Lanche, Adam J. Mansfield, Evan K. Maxwell, Mona Nafde, Sean O’Keeffe, Max Orelus, Razvan Panea, Tommy Polanco, Ayesha Rasool, William Salerno, Jeffrey C. Staples, Dadong Li, Deepika Sharma, Ilanjana Banerjee, Jonas Bovijn, Adam Locke, Niek Verweij, Mary Haas, George Hindy, Tanima De, Parsa Akbari, Olukayode Sosina, Manuel A.R. Ferreira, Marcus B. Jones, Jason Mighty, Michelle G. LeBlanc, Lyndon J. Mitnaul

Publikováno v: Cell
Cell 184, 4784-4818.e17 (2021)
Cell, 184(18), 4784-4818. CELL PRESS
Cell, 184(18), 4784-4818.e17. Cell Press
Boer, C G, Hatzikotoulas, K, Southam, L, Stefansdottir, L, Zhang, Y, Coutinho de Almeida, R, wu, T T, Zhang, J, Hartley, A E, Teder-Laving, M, Skogholt, A H, Terao, C, Zengini, E, Alexiadis, G, Barysenka, A, Bjornsdottir, G, Gabrielsen, M, Gilly, A, Ingvarsson, T, Johnsen, M B, Jonsson, H, Kloppenburg, M, Luetge, A, Lund, S H, Mägi, R, Mangino, M, Nelissen, R, Shivakumar, M, Steinberg, J, Takuwa, H, Thomas, L, Tuerlings, M, Babis, G C, Pui Yin Cheung, J, Kang, J H, Kraft, P, Lietman, S A, Samartzis, D, Slagboom, E, Stefansson, K, Thorsteinsdottir, U, Tobias, J H, Uitterlinden, A G, Winsvold, B S, Zwart, J-A, Davey Smith, G, Sham, P C, Thorleifsson, G, Gaunt, T R, Morris, A, Valdes, A M, Tsezou, A, S.E. Cheah, K, Ikegawa, S, Hveem, K, Esko, T, Wilkinson, J M, Meulenbelt, I, Ta Michael Lee, M, van Meurs, J B J, Styrkarsdottir, U & Zeggini, E 2021, ' Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations ', Cell, vol. 184, no. 18, pp. 4784-4818.e17 . https://doi.org/10.1016/j.cell.2021.07.038

Summary Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and identify 100 independently associated risk variants across 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2107ed7b2af740104437a8ef894bb702
http://hdl.handle.net/10852/89014