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Abstract: Giant cell arteritis (GCA) and Takayasu's arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814 unaffected controls. Genetic pleiotropy was also estimated. The HLA region harboured the main disease-specific associations. GCA was mostly associated with class II genes (HLA-DRB1/HLA-DQA1) whereas TAK was mostly associated with class I genes (HLA-B/MICA). Both the statistical significance and effect size of the HLA signals were considerably reduced in the cross-disease meta-analysis in comparison with the analysis of GCA and TAK separately. Consequently, no significant genetic correlation between these two diseases was observed when HLA variants were tested. Outside the HLA region, only one polymorphism located nearby the IL12B gene surpassed the study-wide significance threshold in the meta-analysis of the discovery datasets (rs755374, P?=?7.54E-07; ORGCA?=?1.19, ORTAK?=?1.50). This marker was confirmed as novel GCA risk factor using four additional cohorts (PGCA?=?5.52E-04, ORGCA?=?1.16). Taken together, our results provide evidence of strong genetic differences between GCA and TAK in the HLA. Outside this region, common susceptibility factors were suggested, especially within the IL12B locus.
Fuente: Sci Rep.2017 Mar 9;7:43953
Editorial: Nature Publishing Group
Año de publicación: 2017
Nº de páginas: 10
Tipo de publicación: Artículo de Revista
DOI: 10.1038/srep43953
ISSN: 2045-2322
Consultar en UCrea Leer publicación
CARMONA, F. DAVID
COIT, PATRICK
SARUHAN-DIRESKENELI, GÜHER
HERNÁNDEZ RODRÍGUEZ, JOSÉ
CID, MARÍA C.
SOLANS, ROSER
CASTAÑEDA, SANTOS
VAGLIO, AUGUSTO
DIRESKENELI, HANER
MERKEL, PETER A.
BOIARDI, LUIGI
SALVARANI, CARLO
MIGUEL ANGEL GONZALEZ-GAY MANTECON
MARTÍN, JAVIER
SAWALHA, AMR H.
VICTOR MANUEL MARTINEZ TABOADA
SPANISH GCA STUDY GROUP
ITALIAN GCA STUDY GROUP
TURKISH TAKAYASU STUDY GROUP
VASCULITIS CLINICAL RESEARCH CONSORTIUM
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