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A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
 
ID 4084067
Author(s) Carmona, F. David; Vaglio, Augusto; Mackie, Sarah L.; Hernández-Rodríguez, José; Monach, Paul A.; Castañeda, Santos; Solans, Roser; Morado, Inmaculada C.; Narváez, Javier; Ramentol-Sintas, Marc; Pease, Colin T.; Dasgupta, Bhaskar; Watts, Richard; Khalidi, Nader; Langford, Carol A.; Ytterberg, Steven; Boiardi, Luigi; Beretta, Lorenzo; Govoni, Marcello; Emmi, Giacomo; Bonatti, Francesco; Cimmino, Marco A.; Witte, Torsten; Neumann, Thomas; Holle, Julia; Schönau, Verena; Sailler, Laurent; Papo, Thomas; Haroche, Julien; Mahr, Alfred; Mouthon, Luc; Molberg, Øyvind; Diamantopoulos, Andreas P.; Voskuyl, Alexandre; Brouwer, Elisabeth; Daikeler, Thomas; Berger, Christoph T.; Molloy, Eamonn S.; O'Neill, Lorraine; Blockmans, Daniel; Lie, Benedicte A.; Mclaren, Paul; Vyse, Timothy J.; Wijmenga, Cisca; Allanore, Yannick; Koeleman, Bobby P. C.; Spanish CGA Group,; Ukgca Consortium,; Vasculitis Clinical Research Consortium,; Barrett, Jennifer H.; Cid, María C.; Salvarani, Carlo; Merkel, Peter A.; Morgan, Ann W.; González-Gay, Miguel A.; Martín, Javier
Author(s) at UniBasel Berger, Christoph
Year 2017
Title A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
Journal American journal of human genetics
Volume 100
Number 1
Pages / Article-Number 64-74
Abstract Giant cell arteritis (GCA) is the most common form of vasculitis in individuals older than 50 years in Western countries. To shed light onto the genetic background influencing susceptibility for GCA, we performed a genome-wide association screening in a well-powered study cohort. After imputation, 1,844,133 genetic variants were analyzed in 2,134 case subjects and 9,125 unaffected individuals from ten independent populations of European ancestry. Our data confirmed HLA class II as the strongest associated region (independent signals: rs9268905, p = 1.94 × 10-54, per-allele OR = 1.79; and rs9275592, p = 1.14 × 10-40, OR = 2.08). Additionally, PLG and P4HA2 were identified as GCA risk genes at the genome-wide level of significance (rs4252134, p = 1.23 × 10-10, OR = 1.28; and rs128738, p = 4.60 × 10-9, OR = 1.32, respectively). Interestingly, we observed that the association peaks overlapped with different regulatory elements related to cell types and tissues involved in the pathophysiology of GCA. PLG and P4HA2 are involved in vascular remodelling and angiogenesis, suggesting a high relevance of these processes for the pathogenic mechanisms underlying this type of vasculitis.
Publisher CELL PRESS
ISSN/ISBN 1537-6605
URL https://www.ncbi.nlm.nih.gov/pubmed/28041642
edoc-URL https://edoc.unibas.ch/61291/
Full Text on edoc No
Digital Object Identifier DOI 10.1016/j.ajhg.2016.11.013
PubMed ID http://www.ncbi.nlm.nih.gov/pubmed/28041642
ISI-Number WOS:000391910500006
Document type (ISI) Article
 
   

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