Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/115327
Title: | A genome wide association study follow-up suggests a possible role of PPARG in systemic esclerosis susceptiblity |
Author: | López Isac, Elena Bossini Castillo, Lara Simeón Aznar, Carmen Pilar Egurbide Arberas, María Victoria Alegre-Sancho, Juan José Callejas Rubio, José Luis Román-Ivorra, José Andrés Freire, Mayka Beretta, Lorenzo Santaniello, Alessandro Airó, Paolo Lunardi, Claudio Hunzelmann, Nicolas Riemestaken, Gabriela Witte, Torsten Kreuter, Alexander Distler, Jörg H.V. Schuerwegh, Annemie J. Vonk, Madelon C. Voskuyl, Alexandre E. Shiels, Paul G. van Laar, Jacob M. Fonseca, Carmen Denton, Christopher P. Herrick, Ariane L. Worthington, Jane Assassi, Shervin Koeleman, Bobby P. C. Mayes, Maureen D. Radstake, Timothy R.D.J. Martín, Javier Espinosa Garriga, Gerard Spanish Scleroderma Study Group (SSSG) Narváez García, Francisco Javier |
Keywords: | Esclerodèrmia Malalties autoimmunitàries Genoma humà Scleroderma (Disease) Autoimmune diseases Human genome |
Issue Date: | 9-Jan-2014 |
Publisher: | BioMed Central |
Abstract: | 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 <10-4 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 (PMH = 1.90 × 10-6, OR, 1.28) and CHRNA9 rs6832151 (PMH = 4.30 × 10-6, 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 (PMH = 5.00 × 10-7; OR, 1.25). No evidence of association was observed for CHRNA9 rs6832151 either in the replication phase or in the overall pooled analysis. |
Note: | Reproducció del document publicat a: https://doi.org/10.1186/ar4432 |
It is part of: | Arthritis Research & Therapy, 2014, vol. 16, num. 1, p. R6 |
URI: | http://hdl.handle.net/2445/115327 |
Related resource: | https://doi.org/10.1186/ar4432 |
ISSN: | 1478-6362 |
Appears in Collections: | Articles publicats en revistes (Medicina) |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
663904.pdf | 297.57 kB | Adobe PDF | View/Open |
This item is licensed under a Creative Commons License