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2017-03-09

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cc-by (c) Carmona, F. D. et al., 2017
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/120343

Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy

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https://doi.org/10.1038/srep43953

Resum

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.

Matèries

Genòmica, Vasculitis

Matèries (anglès)

Genomics, Vasculitis

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Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citació

CARMONA, F. david, COIT, Patrick, SARUHAN DIRESKENELI, Güher, HERNÁNDEZ RODRÍGUEZ, José, CID XUTGLÀ, M. cinta, SOLANS, Roser, CASTAÑEDA, Santos, VAGLIO, Augusto, DIRESKENELI, Haner, MERKEL, Peter a., BOIARDI, Luigi, SALVARANI, Carlo, GONZÁLEZ-GAY, Miguel a., MARTÍN, Javier, SAWALHA, Amr h., Spanish GCA Study Group, NARVÁEZ GARCÍA, Francisco javier, Italian GCA Study Group, Turkish Takayasu Study Group, Vasculitis Clinical Research Consortium. Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy. _Scientific Reports_. 2017. Vol. 7, núm. 43953. [consulta: 27 de gener de 2026]. ISSN: 2045-2322. [Disponible a: https://hdl.handle.net/2445/120343]

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