{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Carmona FD"],"funding":["NCATS NIH HHS","NCRR NIH HHS","Medical Research Council","National Institute for Health Research (NIHR)","NIAMS NIH HHS","Wellcome Trust","Academy of Medical Sciences"],"pagination":["565-80"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4385191"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["96(4)"],"pubmed_abstract":["We conducted a large-scale genetic analysis on giant cell arteritis (GCA), a polygenic immune-mediated vasculitis. A case-control cohort, comprising 1,651 case subjects with GCA and 15,306 unrelated control subjects from six different countries of European ancestry, was genotyped by the Immunochip array. We also imputed HLA data with a previously validated imputation method to perform a more comprehensive analysis of this genomic region. The strongest association signals were observed in the HLA region, with rs477515 representing the highest peak (p = 4.05 × 10(-40), OR = 1.73). A multivariate model including class II amino acids of HLA-DRβ1 and HLA-DQα1 and one class I amino acid of HLA-B explained most of the HLA association with GCA, consistent with previously reported associations of c"],"journal":["American journal of human genetics"],"pubmed_title":["A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility."],"pmcid":["PMC4385191"],"funding_grant_id":["U54 AR057319","CL-2009-02-002","U54 RR019497","MR/L01629X/1","U54AR057319","UL1 TR000439","AMS-SGCL4-Mackie","MANMKBRU-2012-1","NIHR-CS-012-016"],"pubmed_authors":["Taylor JC","Hordon L","Caminal-Montero L","Salvarani C","Morado IC","Hoffman GS","Molberg O","Garcia-Villanueva MJ","Palm O","Ortego-Centeno N","Cid MC","Spanish GCA Group","Martin J","Escalante B","Sreih AG","Dasgupta B","Fernandez-Nebro A","Addimanda O","de Miguel E","Narvaez J","Lunardi C","Diamantopoulos AP","Forbess LJ","Perez-Conesa M","Witte T","Gomez-Vaquero C","Roman JA","Patel Y","Diaz-Lopez JB","Castaneda S","Cimmino MA","Pazzola G","Unzurrunzaga A","Cuthbertson D","Levy S","Mackie SL","Sanchez-Martin J","Mari-Alfonso B","Beretta L","Langford CA","Franke A","Gough A","Gianfreda D","Schirmer JH","Warrington KJ","Corbera-Bellalta M","Pagnoux C","Ordonez-Canizares MC","Muratore F","Khalidi NA","Vaglio A","Hidalgo-Conde A","Green M","Magro C","Ramentol-Sintas M","Fernandez-Contreras ME","Grau E","Wijmenga C","Ortiz-Fernandez L","Fanlo-Mateo P","Raya E","Solans R","Koening CL","Gonzalez-Gay MA","Alegre-Sancho JJ","Saez-Comet L","Worthington J","de Bakker PI","Moosig F","Santilli D","Lopez-Longo FJ","Soriano A","Barrett JH","Monfort J","Bossini-Castillo L","Rios-Fernandez R","Carmona FD","Gonzalez-Escribano MF","Martinez-Taboada VM","Pease CT","Sopena B","Schonau V","Martinez L","Moreland L","Madronero-Vuelta AB","Martin JE","Miranda-Filloy JA","Blanco R","Fernandez-Gutierrez B","Rodriguez-Rodriguez L","Martinez-Zapico A","Ramirez GA","Martinez-Berriochoa A","Jarrett S","Sanchez-Pernaute O","Spiera R","Koeleman BP","Callejas JL","Ytterberg SR","Gregersen PK","Eyre S","Watts R","McAlear CA","Seo P","Merkel PA","Kamath S","Hernandez-Rodriguez J","Carette S","Prieto-Gonzalez S","Tio L","Morgan AW","Monach PA"],"additional_accession":[]},"is_claimable":false,"name":"A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility.","description":"We conducted a large-scale genetic analysis on giant cell arteritis (GCA), a polygenic immune-mediated vasculitis. A case-control cohort, comprising 1,651 case subjects with GCA and 15,306 unrelated control subjects from six different countries of European ancestry, was genotyped by the Immunochip array. We also imputed HLA data with a previously validated imputation method to perform a more comprehensive analysis of this genomic region. The strongest association signals were observed in the HLA region, with rs477515 representing the highest peak (p = 4.05 × 10(-40), OR = 1.73). A multivariate model including class II amino acids of HLA-DRβ1 and HLA-DQα1 and one class I amino acid of HLA-B explained most of the HLA association with GCA, consistent with previously reported associations of c","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015 Apr","modification":"2026-05-01T21:13:50.861Z","creation":"2019-03-27T01:49:21Z"},"accession":"S-EPMC4385191","cross_references":{"pubmed":["25817017"],"doi":["10.1016/j.ajhg.2015.02.009"]}}