Novel loci and biomedical consequences of iron homoeostasis variation

Autor: Elias Allara, Steven Bell, Rebecca Smith, Spencer J. Keene, Dipender Gill, Liam Gaziano, Deisy Morselli Gysi, Feiyi Wang, Vinicius Tragante, Amy Mason, Savita Karthikeyan, R. Thomas Lumbers, Emmanuela Bonglack, Willem Ouwehand, David J. Roberts, Joseph Dowsett, Sisse Rye Ostrowski, Margit Hørup Larsen, Henrik Ullum, Ole Birger Pedersen, Søren Brunak, Karina Banasik, Christian Erikstrup, DBDS Genomic Consortium, Jonathan Mitchell, Christian Fuchsberger, Cristian Pattaro, Peter P. Pramstaller, Domenico Girelli, Mikko Arvas, Jarkko Toivonen, Sophie Molnos, Annette Peters, Ozren Polasek, Igor Rudan, Caroline Hayward, Ciara McDonnell, Nicola Pirastu, James F. Wilson, Katja van den Hurk, Franke Quee, Luigi Ferrucci, Stefania Bandinelli, Toshiko Tanaka, Giorgia Girotto, Maria Pina Concas, Alessandro Pecori, Niek Verweij, Pim van der Harst, Yordi J. van de Vegte, Lambertus A. Kiemeney, Fred C. Sweep, Tessel E. Galesloot, Patrick Sulem, Daniel Gudbjartsson, Egil Ferkingstad, FinnGen Consortium, Luc Djousse, Kelly Cho, Michael Inouye, Stephen Burgess, Beben Benyamin, Konrad Oexle, Dorine Swinkels, Kari Stefansson, Magnus Magnusson, Andrea Ganna, Michael Gaziano, Kerry Ivey, John Danesh, Alexandre Pereira, Angela M. Wood, Adam S. Butterworth, Emanuele Di Angelantonio

Publikováno v: Communications Biology, Vol 7, Iss 1, Pp 1-17 (2024)

Abstract Iron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unc

Externí odkaz: https://doaj.org/article/9612bd28250149b99e442728bc5f20bf

Genome‐Wide Interaction Analyses of Serum Calcium on Ventricular Repolarization Time in 125 393 Participants

Autor: William J. Young, Peter J. van der Most, Traci M. Bartz, Maxime M. Bos, Ginevra Biino, ThuyVy Duong, Luisa Foco, Jesus T. Lominchar, Martina Müller‐Nurasyid, Giuseppe Giovanni Nardone, Alessandro Pecori, Julia Ramirez, Linda Repetto, Katharina Schramm, Xia Shen, Stefan van Duijvenboden, Diana van Heemst, Stefan Weiss, Jie Yao, Jan‐Walter Benjamins, Alvaro Alonso, Beatrice Spedicati, Mary L. Biggs, Jennifer A. Brody, Marcus Dörr, Christian Fuchsberger, Martin Gögele, Xiuqing Guo, M. Arfan Ikram, J. Wouter Jukema, Stefan Kääb, Jørgen K. Kanters, Henry J. Lin, Allan Linneberg, Matthias Nauck, Ilja M. Nolte, Giulia Pianigiani, Aurora Santin, Elsayed Z. Soliman, Paola Tesolin, Simona Vaccargiu, Melanie Waldenberger, Pim van der Harst, Niek Verweij, Dan E. Arking, Maria Pina Concas, Alessandro De Grandi, Giorgia Girotto, Niels Grarup, Maryam Kavousi, Dennis O. Mook‐Kanamori, Pau Navarro, Michele Orini, Sandosh Padmanabhan, Cristian Pattaro, Annette Peters, Mario Pirastu, Peter P. Pramstaller, Susan R. Heckbert, Mortiz Sinner, Harold Snieder, Uwe Völker, James F. Wilson, W. James Gauderman, Pier D. Lambiase, Nona Sotoodehnia, Andrew Tinker, Helen R. Warren, Raymond Noordam, Patricia B. Munroe

Publikováno v: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 17 (2024)

Background Ventricular repolarization time (ECG QT and JT intervals) is associated with malignant arrhythmia. Genome‐wide association studies have identified 230 independent loci for QT and JT; however, 50% of their heritability remains unexplained

Externí odkaz: https://doaj.org/article/d9db835045cc4f1b993097b3854693a3

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

Autor: Rosalie B. T. M. Sterenborg, Inga Steinbrenner, Yong Li, Melissa N. Bujnis, Tatsuhiko Naito, Eirini Marouli, Tessel E. Galesloot, Oladapo Babajide, Laura Andreasen, Arne Astrup, Bjørn Olav Åsvold, Stefania Bandinelli, Marian Beekman, John P. Beilby, Jette Bork-Jensen, Thibaud Boutin, Jennifer A. Brody, Suzanne J. Brown, Ben Brumpton, Purdey J. Campbell, Anne R. Cappola, Graziano Ceresini, Layal Chaker, Daniel I. Chasman, Maria Pina Concas, Rodrigo Coutinho de Almeida, Simone M. Cross, Francesco Cucca, Ian J. Deary, Alisa Devedzic Kjaergaard, Justin B. Echouffo Tcheugui, Christina Ellervik, Johan G. Eriksson, Luigi Ferrucci, Jan Freudenberg, GHS DiscovEHR, Regeneron Genetics Center, Christian Fuchsberger, Christian Gieger, Franco Giulianini, Martin Gögele, Sarah E. Graham, Niels Grarup, Ivana Gunjača, Torben Hansen, Barbara N. Harding, Sarah E. Harris, Stig Haunsø, Caroline Hayward, Jennie Hui, Till Ittermann, J. Wouter Jukema, Eero Kajantie, Jørgen K. Kanters, Line L. Kårhus, Lambertus A. L. M. Kiemeney, Margreet Kloppenburg, Brigitte Kühnel, Jari Lahti, Claudia Langenberg, Bruno Lapauw, Graham Leese, Shuo Li, David C. M. Liewald, Allan Linneberg, Jesus V. T. Lominchar, Jian’an Luan, Nicholas G. Martin, Antonela Matana, Marcel E. Meima, Thomas Meitinger, Ingrid Meulenbelt, Braxton D. Mitchell, Line T. Møllehave, Samia Mora, Silvia Naitza, Matthias Nauck, Romana T. Netea-Maier, Raymond Noordam, Casia Nursyifa, Yukinori Okada, Stefano Onano, Areti Papadopoulou, Colin N. A. Palmer, Cristian Pattaro, Oluf Pedersen, Annette Peters, Maik Pietzner, Ozren Polašek, Peter P. Pramstaller, Bruce M. Psaty, Ante Punda, Debashree Ray, Paul Redmond, J. Brent Richards, Paul M. Ridker, Tom C. Russ, Kathleen A. Ryan, Morten Salling Olesen, Ulla T. Schultheiss, Elizabeth Selvin, Moneeza K. Siddiqui, Carlo Sidore, P. Eline Slagboom, Thorkild I. A. Sørensen, Enrique Soto-Pedre, Tim D. Spector, Beatrice Spedicati, Sundararajan Srinivasan, John M. Starr, David J. Stott, Toshiko Tanaka, Vesela Torlak, Stella Trompet, Johanna Tuhkanen, André G. Uitterlinden, Erik B. van den Akker, Tibbert van den Eynde, Melanie M. van der Klauw, Diana van Heemst, Charlotte Verroken, W. Edward Visser, Dina Vojinovic, Henry Völzke, Melanie Waldenberger, John P. Walsh, Nicholas J. Wareham, Stefan Weiss, Cristen J. Willer, Scott G. Wilson, Bruce H. R. Wolffenbuttel, Hanneke J. C. M. Wouters, Margaret J. Wright, Qiong Yang, Tatijana Zemunik, Wei Zhou, Gu Zhu, Sebastian Zöllner, Johannes W. A. Smit, Robin P. Peeters, Anna Köttgen, Alexander Teumer, Marco Medici

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)

Abstract To date only a fraction of the genetic footprint of thyroid function has been clarified. We report a genome-wide association study meta-analysis of thyroid function in up to 271,040 individuals of European ancestry, including reference range

Externí odkaz: https://doaj.org/article/87582eb11e3e4880b14ffaaf73048c8f

Dopamine‑iron homeostasis interaction rescues mitochondrial fitness in Parkinson's disease

Autor: Chiara Buoso, Markus Seifert, Martin Lang, Corey M. Griffith, Begoña Talavera Andújar, Maria Paulina Castelo Rueda, Christine Fischer, Carolina Doerrier, Heribert Talasz, Alessandra Zanon, Peter P. Pramstaller, Emma L. Schymanski, Irene Pichler, Guenter Weiss

Publikováno v: Neurobiology of Disease, Vol 196, Iss , Pp 106506- (2024)

Imbalances of iron and dopamine metabolism along with mitochondrial dysfunction have been linked to the pathogenesis of Parkinson's disease (PD). We have previously suggested a direct link between iron homeostasis and dopamine metabolism, as dopamine

Externí odkaz: https://doaj.org/article/d517c125d28f4107ba7717865a8a0ac0

Genetic determinants of complement activation in the general population

Autor: Damia Noce, Luisa Foco, Dorothea Orth-Höller, Eva König, Giulia Barbieri, Maik Pietzner, Dariush Ghasemi-Semeskandeh, Stefan Coassin, Christian Fuchsberger, Martin Gögele, Fabiola Del Greco M., Alessandro De Grandi, Monika Summerer, Eleanor Wheeler, Claudia Langenberg, Cornelia Lass-Flörl, Peter Paul Pramstaller, Florian Kronenberg, Reinhard Würzner, Cristian Pattaro

Publikováno v: Cell Reports, Vol 43, Iss 1, Pp 113611- (2024)

Summary: Complement is a fundamental innate immune response component. Its alterations are associated with severe systemic diseases. To illuminate the complement’s genetic underpinnings, we conduct genome-wide association studies of the functional

Externí odkaz: https://doaj.org/article/1509f3ea44c84e049cafc3e294f444b1