Novel risk genes identified in a genome-wide association study for coronary artery disease in patients with type 1 diabetes

Autor: Romain Charmet, Seamus Duffy, Sareh Keshavarzi, Beata Gyorgy, Michel Marre, Peter Rossing, Amy Jayne McKnight, Alexander P. Maxwell, Tarun veer Singh Ahluwalia, Andrew D. Paterson, David-Alexandre Trégouët, Samy Hadjadj

Publikováno v: Cardiovascular Diabetology, Vol 17, Iss 1, Pp 1-10 (2018)

Abstract Background Patients with type 1 diabetes are more at risk of coronary artery disease than the general population. Although evidence points to a genetic risk there have been no study investigating genetic risk factors of coronary artery disea

Externí odkaz: https://doaj.org/article/b4bedeaed54b4620aa2aaa9db8909546

FGL1 as a modulator of plasma D-dimer levels: exome-wide marker analysis of plasma tPA, PAI-1 and D-dimer

Autor: Ci Song, Christopher J. O'Donnell, Weihong Tang, Karl C. Desch, Xiuqing Guo, Aaron R. Folsom, Rasika A. Mathias, David-Alexandre Trégouët, Eleanor M. Simonsick, Jerome I. Rotter, Ming-Huei Chen, Germán D. Carrasquilla, Winfried März, Nicholas L. Smith, Pierre-Emmanuel Morange, Russel Tracy, Maria Sabater-Lleal, Diane M. Becker, Jie Yao, Lisa R. Yanek, Oluf Pedersen, Tuomas O. Kilpeläinen, Hampton L. Leonard, Jennifer A. Brody, Gerard Temprano-Sagrera, Allan Linneberg, Florian Thibord, Torben Hansen, Marcus E. Kleber, Mary Cushman, Jack Pattee, Lewis C. Becker, Hugh Watkins, Niels Grarup, Marta Guindo-Martínez, Nathan Pankratz, Anders Hamsten, Ayse Bilge Ozel, Angela Silveira, Mike A. Nalls, Benjamin Rodriguez, Kent D. Taylor, Laura M. Raffield, Andrew D. Johnson, Paul S. de Vries, Barbara McKnight, Graciela E. Delgado, Alanna C. Morrison, Beata Gyorgy, Bruce M. Psaty

Publikováno v: Journal of Thrombosis and Haemostasis
Journal of Thrombosis and Haemostasis, Wiley, 2021, ⟨10.1111/jth.15345⟩
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
J Thromb Haemost
Journal of Thrombosis and Haemostasis, 2021, ⟨10.1111/jth.15345⟩
Journal of thrombosis and haemostasis : JTH, vol 19, iss 8

BackgroundUse of targeted exome-arrays with common, rare variants and functionally enriched variation has led to discovery of new genes contributing to population variation in risk factors. Plasminogen activator-inhibitor 1 (PAI-1), tissue plasminoge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1922d03d8fbb3c0db519c3c36aad91f8
https://hal.archives-ouvertes.fr/hal-03274625

Impact of a frequent nearsplice

Autor: François, Muratet, Elisa, Teyssou, Aude, Chiot, Séverine, Boillée, Christian S, Lobsiger, Delphine, Bohl, Beata, Gyorgy, Justine, Guegan, Yannick, Marie, Maria Del Mar, Amador, Francois, Salachas, Vincent, Meininger, Emilien, Bernard, Jean-Christophe, Antoine, Jean-Philippe, Camdessanché, William, Camu, Cécile, Cazeneuve, Anne-Laure, Fauret-Amsellem, Eric, Leguern, Kevin, Mouzat, Claire, Guissart, Serge, Lumbroso, Philippe, Corcia, Patrick, Vourc'h, Aude-Marie, Grapperon, Shahram, Attarian, Annie, Verschueren, Danielle, Seilhean, Stéphanie, Millecamps

Publikováno v: Journal of neurology, neurosurgery, and psychiatry. 92(9)

Mutations in superoxide dismutase 1 gene (We analysed SOD1 mutation distribution after SOD1 sequencing in a large cohort of 470 French familial ALS (fALS) index cases.We identified a total of 27 SOD1 variants in 38 families including two SOD1 variant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::394667b41b63c0c4e64e697e6403be0d
https://pubmed.ncbi.nlm.nih.gov/33906934

Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen

Autor: Emma Ahlqvist, Catherine Godson, Darrell Andrews, Per-Henrik Groop, Raimund Weitgasser, Andrzej S. Krolewski, Kristine E. Lee, Lina Radzeviciene, Stuart J. McGurnaghan, Colin N. A. Palmer, Joanne B. Cole, Shelley B. Bull, Andrew P. Boright, Lars Stechemesser, Katalin Susztak, Barbara E.K. Klein, Wei-Min Chen, Kerstin Brismar, Carol Forsblom, Jani K. Haukka, Beata Gyorgy, Adam M. Smiles, Jose C. Florez, Harvest F. Gu, Niina Sandholm, Leif Groop, Gareth J. McKay, Maria Hughes, Mark I. McCarthy, Joel N. Hirschhorn, Athina Spiliopoulou, Michael Mauer, Samy Hadjadj, Nicolae Mircea Panduru, Helen M. Colhoun, Jingchuan Guo, Robert G. Nelson, Matthias Kretzler, Valdis Pīrāgs, Marcus G. Pezzolesi, Tarunveer S. Ahluwalia, Rasa Verkauskiene, Michel Marre, Linda T. Hiraki, Janet K. Snell-Bergeon, Bernhard Paulweber, Stephen S. Rich, Erkka Valo, Chen Di Liao, David M. Maahs, Vita Rovīte, Rachel G. Miller, Eoin P. Brennan, Peter Rossing, Natalie R. van Zuydam, Maria Luiza Caramori, Jan Skupien, Rany M. Salem, A. Peter Maxwell, Paul M. McKeigue, Maria Lajer, Gianpaolo Zerbini, Chengxiang Qiu, David-Alexandre Trégouët, Henrik Falhammar, Jennifer Todd, Rajasree Menon, Jelizaveta Sokolovska, Valma Harjutsalo, Anna Möllsten, Ronald Klein, Xiaoyu Gao, Viji Nair, Jihwan Park, Amy Jayne McKnight, Jing Jing Cao, Silvia Maestroni, Edita Prakapiene, Ian H. de Boer, Finian Martin, Andrew D. Paterson, Suna Onengut-Gumuscu, Ross Doyle, Hyun Min Kang, Angelo J. Canty, Andrew C. Liu, Tina Costacou, Carine M. Boustany-Kari

Publikováno v: Salem, R M, Todd, J N, Sandholm, N, Rossing, P, Rich, S S, Hirschhorn, J N, Florez, J C & SUMMIT Consortium, DCCT/EDIC Research Group, GENIE Consortium 2019, ' Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen ', Journal of the American Society of Nephrology, vol. 30, no. 10, pp. 2000-2016 . https://doi.org/10.1681/ASN.2019030218
2019, ' Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen ', Journal of the American Society of Nephrology . https://doi.org/10.1681/ASN.2019030218
SUMMIT Consortium, DCCT/EDIC Research Group, GENIE Consortium, Kretzler, M, Susztak, K, Colhoun, H M, Krolewski, A S, Paterson, A D, Groop, P-H, Rich, S S, Hirschhorn, J N & Florez, J C 2019, ' Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen ', Journal of the American Society of Nephrology, vol. 30, no. 10, pp. 2000-2016 . https://doi.org/10.1681/ASN.2019030218
J Am Soc Nephrol

BACKGROUND: Although diabetic kidney disease demonstrates both familial clustering and single nucleotide polymorphism heritability, the specific genetic factors influencing risk remain largely unknown.METHODS: To identify genetic variants predisposin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7c5428acfac62f36ff4056292157371
https://curis.ku.dk/portal/da/publications/genomewide-association-study-of-diabetic-kidney-disease-highlights-biology-involved-in-glomerular-basement-membrane-collagen(b30453e6-4f70-4b36-83fd-2afa1bcee756).html

Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen

Autor: Jihwan Park, Angelo J. Canty, Robert G. Nelson, Vita Rovīte, Anna Möllsten, Peter Rossing, Linda T Hiraki, Katalin Susztak, Ronald Klein, Shelley B. Bull, Jan Skupien, Jani K. Haukka, Andrew D. Paterson, Niina Sandholm, Catherine Godson, Athina Spiliopoulou, A. Peter Maxwell, Suna Onengut-Gumuscu, Tina Costacou, Harvest F. Gu, Andrew P. Boright, Barbara E.K. Klein, Rany M. Salem, David-Alexandre Trégouët, Carine M. Boustany-Kari, Lina Radzeviciene, Ross Doyle, Valma Harjutsalo, Hyun Min Kang, Gareth J. McKay, Rachel G. Miller, Jose C. Florez, Jennifer N. Todd, Maria Luiza Caramori, Leif Groop, Eoin P. Brennan, Andrzej Krolewski, Maria Lajer, Rajasree Menon, Jelizaveta Sokolovska, Michel Marre, Darrel Andrews, Dcct, Wei-Min Chen, Emma Ahlqvist, Maria Hughes, Raimund Weitgasser, Andrew S.K. Liu, Jingchuan Guo, Edita Prakapiene, Viji Nair, Matthias Kretzler, Bernhard Paulweber, Chen Di Liao, Ian H. de Boer, Jing Jing Cao, Valdis Pīrāgs, Gianpaolo Zerbini, Mark I. McCarthy, Stephen S. Rich, Tarunveer S. Ahluwalia, Janet K. Snell-Bergeon, Joel N. Hirschhorn, Colin N. A. Palmer, F Martin, Kerstin Brismar, Beata Gyorgy, Adam M. Smiles, David M. Maahs, Michael Mauer, Kristine E. Lee, Joanne B. Cole, Per-Henrik Groop, Rasa Verkauskiene, Marcus G. Pezzolesi, Xiaoyu Gao, Paul M. McKeigue, Henrik Falhammar, Stuart J. McGurnaghan, Erkka Valo, Silvia Maeastroni, Lars Stechemesser, Helen M. Colhoun, Natalie R. van Zuydam, Amy J. McKnight, Chengxiang Qiu, Carol Forsblom, Nicolae Mircea Panduru, Samy Hadjadj

Diabetic kidney disease (DKD) is a heritable but poorly understood complication of diabetes. To identify genetic variants predisposing to DKD, we performed genome-wide association analyses in 19,406 individuals with type 1 diabetes (T1D) using a spec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::237f22af230d972819585a6a36b1f76c
https://doi.org/10.1101/499616