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Lookup NU author(s): Professor Jaap Van Laar
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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 x 10(-4), OR 1.19; rs4958881 p(MH) = 3.26 x 10(-5), OR 1.19; rs3792783 p(MH) = 2.16 x 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.
Author(s): Bossini-Castillo L, Martin JE, Broen J, Simeon CP, Beretta L, Gorlova OY, Vonk MC, Ortego-Centeno N, Espinosa G, Carreira P, de la Pena PG, Oreiro N, Roman-Ivorra JA, Castillo MJ, Gonzalez-Gay MA, Saez-Comet L, Castellvi I, Schuerwegh AJ, Voskuyl AE, Hoffmann-Vold AM, Hesselstrand R, Nordin A, Lunardi C, Scorza R, van Laar JM, Shiels PG, Herrick A, Worthington J, Fonseca C, Denton C, Tan FK, Arnett FC, Assassi S, Koeleman BP, Mayes MD, Radstake TRDJ, Martin J, Spanish Scleroderma Grp
Publication type: Article
Publication status: Published
Journal: Annals of the Rheumatic Diseases
Year: 2013
Volume: 72
Issue: 4
Pages: 602-607
Print publication date: 01/04/2013
ISSN (print): 0003-4967
ISSN (electronic):
Publisher: BMJ Group
URL: http://dx.doi.org/10.1136/annrheumdis-2012-201888
DOI: 10.1136/annrheumdis-2012-201888
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