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Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study

Abstract: Introduction: A recent genome-wide association study in European systemic sclerosis (SSc) patients identified three loci (PSORS1C1, TNIP1 and RHOB) as novel genetic risk factors for the disease. The aim of this study was to replicate the previously mentioned findings in a large multicentre independent SSc cohort of Caucasian ancestry. Methods: 4389 SSc patients and 7611 healthy controls from different European countries and the USA were included in the study. Six single nucleotide polymorphisms (SNP): rs342070, rs13021401 (RHOB), rs2233287, rs4958881, rs3792783 (TNIP1) and rs3130573 (PSORS1C1) were analysed. Overall significance was calculated by pooled analysis of all the cohorts. Haplotype analyses and conditional logistic regression analyses were carried out to explore further the genetic structure of the tested loci. Results: Pooled analyses of all the analysed SNPs in TNIP1 revealed significant association with the whole disease (rs2233287 p(MH)=1.94×10(-4), OR 1.19; rs4958881 p(MH)=3.26×10(-5), OR 1.19; rs3792783 p(MH)=2.16×10(-4), OR 1.19). These associations were maintained in all the subgroups considered. PSORS1C1 comparison showed association with the complete set of patients and all the subsets except for the anti-centromere-positive patients. However, the association was dependent on different HLA class II alleles. The variants in the RHOB gene were not associated with SSc or any of its subsets. Conclusions: These data confirmed the influence of TNIP1 on an increased susceptibility to SSc and reinforced this locus as a common autoimmunity risk factor.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: Annals of the Rheumatic Diseases, 2013, 72(4), 602-607

Editorial: BMJ Publishing Group

 Fecha de publicación: 01/04/2013

Nº de páginas: 12

Tipo de publicación: Artículo de Revista

 DOI: 10.1136/annrheumdis-2012-201888

ISSN: 0003-4967,1468-2060

 Proyecto español: SAF2009?11110

Url de la publicación: https://doi.org/10.1136/annrheumdis-2012-201888

Autoría

BOSSINI-CASTILLO, LARA

MARTÍN, JOSE EZEQUIEL

BROEN, JASPER

SIMEÓN, CARMEN P.

BERETTA, LORENZO

GORLOVA, OLGA Y.

VONK, MADELON C.

ORTEGO-CENTENO, NORBERTO

ESPINOSA, GERARD

CARREIRA, PATRICIA

GARCÍA DE LA PEÑA, PALOMA

OREIRO, NATIVIDAD

ROMÁN-IVORRA, JOSÉ ANDRÉS

CASTILLO, MARÍA JESÚS

CASTELLVÍ, IVÁN

SCHUERWEGH, ANNEMIE J.

VOSKUYL, ALEXANDRE E.

HOFFMAN-VOLD, ANNA-MARIA