A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility
López-Isac, Elena (Instituto de Parasitología y Biomedicina "López-Neyra")
Bossini-Castillo, Lara (Instituto de Parasitología y Biomedicina "López-Neyra")
Simeón-Aznar, Carmen Pilar (Hospital Universitari Vall d'Hebron)
Egurbide, María Victoria (Hospital Universitario de Cruces (Barakaldo, País Basc))
Alegre-Sancho, Juan José (Hospital Universitari Doctor Peset (València))
Callejas, Jose Luis (Hospital Universitario San Cecilio (Granada))
Roman-Ivorra, José Andrés (Hospital Universitari i Politècnic La Fe (València))
Freire, Mayka (Complexo Hospitalario Universitario de Vigo)
Beretta, Lorenzo (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia))
Santaniello, Alessandro (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia))
Airò, Paolo (Azienda Ospedaliera Spedali Civili di Brescia (Brescia, Itàlia))
Lunardi, Claudio (Università degli Studi di Verona)
Hunzelmann, Nicolas (University of Cologne)
Riemekasten, Gabriela (Charité-Universitätsmedizin Berlin)
Witte, Torsten (Hannover Medical School)
Kreuter, Alexander (Josefs-Hospital. Ruhr University Bochum. Department of Dermatology)
Distler, Jörg H.W. (University of Erlangen-Nuremberg)
Schuerwegh, Annemie J. (Leiden University Medical Center)
Vonk, Madelon C. (Radboud University Nijmegen Medical Center (Nijmegen, Països Baixos))
Voskuyl, A.E (Amsterdam University Medical Center (UMC))
Shiels, Paul G. (University of Glasgow)
van Laar, Jacob M. (Newcastle University)
Fonseca, Carmen (Royal Free and University College Medical School)
Denton, Christopher P (Royal Free and University College Medical School)
Herrick, Ariane (The University of Manchester)
Worthington, Jane (The University of Manchester)
Assassi, Shervin (The University of Texas Health Science Center-Houston)
Koeleman, Bobby P. (University Medical Center Utrecht)
Mayes, Maureen D. (The University of Texas Health Science Center-Houston)
Radstake, Timothy R.D.J. (University Medical Center)
Martin, Javier (Parque Tecnológico Ciencias de la Salud)
Ortego-Centeno, Norberto (Hospital Universitario San Cecilio (Granada))
Ríos, Raquel (Hospital Clínico San Cecilio)
Navarrete Navarrete, Nuria (Hospital Universitario Virgen de las Nieves (Granada))
Portales, Rosa García (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia))
Camps, Mª Teresa (Hospital Regional Universitario Carlos Haya (Málaga))
Fernández-Nebro, Antonio (Hospital Regional Universitario Carlos Haya (Málaga))
González-Escribano, María Francisca (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Sánchez-Román, Julio (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
García-Hernández, Francisco José (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Castillo, María Jesús (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Aguirre, M. Ángeles (Hospital Universitario Reina Sofía (Còrdova, Espanya))
Gómez-Gracia, Inmaculada (Hospital Universitario Reina Sofía (Còrdova, Espanya))
Carreira, Patricia (Hospital Universitario 12 de Octubre (Madrid))
Fernández-Gutiérrez, B (Hospital Clínico San Carlos (Madrid))
Rodríguez-Rodríguez, Luis (Hospital Clínico San Carlos (Madrid))
Vicente, Eva (Hospital Universitario de la Princesa (Madrid))
Andreu, José Luis (Hospital Universitario Puerta de Hierro Majadahonda (Madrid))
de Castro, Mónica Fernández (Hospital Universitario Puerta de Hierro Majadahonda (Madrid))
de la Peña, Paloma García (Hospital Madrid Norte Sanchinarro)
López-Longo, Francisco Javier (Hospital General Universitario Gregorio Marañón)
Martinez, L. (Hospital General Universitario Gregorio Marañón)
Fonollosa, Vicente (Hospital Universitari Vall d'Hebron)
Espinosa, Gerard (Hospital Clínic i Provincial de Barcelona)
Castellvi, Ivan (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Tolosa, Carlos (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
Pros, Ana (Hospital del Mar (Barcelona, Catalunya))
Carballeira, Monica Rodriguez (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya))
Narváez, Javier (Hospital Universitari de Bellvitge)
Rubio Rivas, Manuel (Hospital Universitari de Bellvitge)
Santamarí, V.O. (Hospital General de Granollers)
Gonzalez-Gay, MA (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria))
Díaz, Bernardino (Hospital Universitario Central de Asturias)
Trapiella, Luis (Hospital Universitario Central de Asturias)
Sousa, Adrián (Complexo Hospitalario Universitario de Vigo)
Mateo, Patricia Fanlo (Hospital Virgen del Camino (Pamplona))
Sáez-Comet, Luis (Hospital Universitario Miguel Servet (Saragossa))
Díaz, Federico (Hospital Universitario de Canarias (La Laguna))
Hernández, Vanessa (Hospital Universitario de Canarias (La Laguna))
Beltrán, E. (Hospital General Universitario de Valencia)
Blanco-García, F.J (Complejo Hospitalario Universitario de A Coruña)
Oreiro, Natividad (Complejo Hospitalario Universitario de A Coruña)
Universitat Autònoma de Barcelona

Data:	2014
Resum:	Introduction: A recent genome-wide association study (GWAS) comprising a French cohort of systemic sclerosis (SSc) reported several non-HLA single-nucleotide polymorphisms (SNPs) showing a nominal association in the discovery phase. We aimed to identify previously overlooked susceptibility variants by using a follow-up strategy. Methods: Sixty-six non-HLA SNPs showing a P value <10 in the discovery phase of the French SSc GWAS were analyzed in the first step of this study, performing a meta-analysis that combined data from the two published SSc GWASs. A total of 2,921 SSc patients and 6,963 healthy controls were included in this first phase. Two SNPs, PPARG rs310746 and CHRNA9 rs6832151, were selected for genotyping in the replication cohort (1,068 SSc patients and 6,762 healthy controls) based on the results of the first step. Genotyping was performed by using TaqMan SNP genotyping assays. Results: We observed nominal associations for both PPARG rs310746 (P = 1. 90 × 10, OR, 1. 28) and CHRNA9 rs6832151 (P = 4. 30 × 10, OR, 1. 17) genetic variants with SSc in the first step of our study. In the replication phase, we observed a trend of association for PPARG rs310746 (P value = 0. 066; OR, 1. 17). The combined overall Mantel-Haenszel meta-analysis of all the cohorts included in the present study revealed that PPARG rs310746 remained associated with SSc with a nominal non-genome-wide significant P value (P = 5. 00 × 10; OR, 1. 25). No evidence of association was observed for CHRNA9 rs6832151 either in the replication phase or in the overall pooled analysis. Conclusion: Our results suggest a role of PPARG gene in the development of SSc. © 2014 López-Isac et al. ; licensee BioMed Central Ltd.
Ajuts:	Ministerio de Ciencia e Innovación SAF2009-11110 Ministerio de Economía y Competitividad SAF2012-34435
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Adult ; Cohort Studies ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; PPAR gamma ; Scleroderma, Systemic
Publicat a:	Arthritis research & therapy, Vol. 16 Núm. 1 (september 2014) , p. R6, ISSN 1478-6362

DOI: 10.1186/ar4432
PMID: 24401602

8 p, 297.6 KB

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