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

نویسندگان

  • F. David Carmona
  • Patrick Coit
  • Güher Saruhan-Direskeneli
  • José Hernández-Rodríguez
  • María C. Cid
  • Roser Solans
  • Santos Castañeda
  • Augusto Vaglio
  • Haner Direskeneli
  • Peter A. Merkel
  • Luigi Boiardi
  • Carlo Salvarani
  • Miguel A. González-Gay
  • Javier Martín
  • Amr H. Sawalha
  • Agustín Martínez-Berriochoa
  • Ainhoa Unzurrunzaga
  • Ana Hidalgo-Conde
  • Ana Belén Madroñero Vuelta
  • Antonio Fernández-Nebro
  • M. Carmen Ordóñez-Cañizares
  • Benjamín Fernández-Gutiérrez
  • Luis Rodríguez-Rodríguez
  • Begoña Escalante
  • Begoña Marí-Alfonso
  • Bernardo Sopeña
  • Carmen Gómez-Vaquero
  • Enrique Raya
  • Elena Grau
  • José A. Román
  • Esther F. Vicente
  • Eugenio de Miguel
  • Francisco J. López-Longo
  • Lina Martínez
  • Inmaculada C. Morado
  • J. Bernardino Díaz-López
  • Luis Caminal-Montero
  • Aleida Martínez-Zapico
  • Javier Narváez
  • Jordi Monfort
  • Laura Tío
  • José A. Miranda-Filloy
  • Julio Sánchez-Martín
  • Juan J. Alegre-Sancho
  • Luis Sáez-Comet
  • Mercedes Pérez-Conesa
  • Marc Corbera-Bellalta
  • Marc Ramentol-Sintas
  • María Jesús García-Villanueva
  • Mercedes Guijarro Rojas
  • Norberto Ortego-Centeno
  • Raquel Ríos Fernández
  • José Luis Callejas
  • Olga Sanchez Pernaute
  • Patricia Fanlo Mateo
  • Ricardo Blanco
  • Sergio Prieto-González
  • Víctor Manuel Martínez-Taboada
  • Alessandra Soriano
  • Claudio Lunardi
  • Davide Gianfreda
  • Daniele Santilli
  • Francesco Bonatti
  • Francesco Muratore
  • Giulia Pazzola
  • Olga Addimanda
  • Giacomo Emmi
  • Giuseppe A. Ramirez
  • Lorenzo Beretta
  • Marcello Govoni
  • Marco A. Cimmino
  • Ahmet Mesut Onat
  • Ayse Cefle
  • Ayten Yazici
  • Bünyamin Kısacık
  • Ediz Dalkilic
  • Emire Seyahi
  • Izzet Fresko
  • Ercan Tunc
  • Eren Erken
  • Hüseyin TE Ozer
  • Kenan Aksu
  • Gokhan Keser
  • Mehmet A. Ozturk
  • Muge Bıcakcıgil
  • Nurşen Duzgun
  • Omer Karadag
  • Sedat Kiraz
  • Ömer N. Pamuk
  • Servet Akar
  • Fatos Onen
  • Nurullah Akkoc
  • Sevil Kamali
  • Murat Inanc
  • Sibel P. Yentür
  • Sibel Z. Aydin
  • Fatma Alibaz-Oner
  • Timuçin Kaşifoğlu
  • Veli Cobankara
  • Zeynep Ozbalkan
  • Askin Ates
  • Yasar Karaaslan
  • Simon Carette
  • Sharon A. Chung
  • David Cuthbertson
  • Lindsay J. Forbess
  • Gary S. Hoffman
  • Nader A. Khalidi
  • Curry L. Koening
  • Carol A. Langford
  • Carol A. McAlear
  • Kathleen McKinnon-Maksimowicz
  • Paul A. Monach
  • Larry Moreland
  • Christian Pagnoux
  • Philip Seo
  • Robert Spiera
  • Antoine G. Sreih
  • Kenneth J. Warrington
  • Steven R. Ytterberg
چکیده

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.

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عنوان ژورنال:

دوره 7  شماره 

صفحات  -

تاریخ انتشار 2017