Lopez-Isac, Elena ORCID: 0000-0001-8806-5148, Bossini-Castillo, Lara ORCID: 0000-0002-5471-5824, Simeon, Carmen P., Victoria Egurbide, Maria, Jose Alegre-Sancho, Juan, Luis Callejas, Jose, Andres Roman-Ivorra, Jose, Freire, Mayka ORCID: 0000-0002-7087-4091, Beretta, Lorenzo ORCID: 0000-0002-6529-6258, Santaniello, Alessandro, Airo, Paolo, Lunardi, Claudio, Hunzelmann, Nicolas, Riemekasten, Gabriela, Witte, Torsten, Kreuter, Alexander, Distler, Joerg H. W., Schuerwegh, Annemie J., Vonk, Madelon C., Voskuyl, Alexandre E., Shiels, Paul G., van Laar, Jacob M., Fonseca, Carmen, Denton, Christopher, Herrick, Ariane ORCID: 0000-0003-4941-7926, Worthington, Jane ORCID: 0000-0003-0544-042X, Assassi, Shervin, Koeleman, Bobby P., Mayes, Maureen D., Radstake, Timothy R. D. J. and Martin, Javier ORCID: 0000-0002-2202-0622 (2014). A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility. Arthritis Res. Ther., 16 (1). LONDON: BIOMED CENTRAL LTD. ISSN 1478-6362

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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 (P-MH = 1.90 x 10(-6), OR, 1.28) and CHRNA9 rs6832151 (P-MH = 4.30 x 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 (P-MH = 5.00 x 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. Conclusion: Our results suggest a role of PPARG gene in the development of SSc.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Lopez-Isac, ElenaUNSPECIFIEDorcid.org/0000-0001-8806-5148UNSPECIFIED
Bossini-Castillo, LaraUNSPECIFIEDorcid.org/0000-0002-5471-5824UNSPECIFIED
Simeon, Carmen P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Victoria Egurbide, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jose Alegre-Sancho, JuanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Luis Callejas, JoseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andres Roman-Ivorra, JoseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Freire, MaykaUNSPECIFIEDorcid.org/0000-0002-7087-4091UNSPECIFIED
Beretta, LorenzoUNSPECIFIEDorcid.org/0000-0002-6529-6258UNSPECIFIED
Santaniello, AlessandroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Airo, PaoloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lunardi, ClaudioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hunzelmann, NicolasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riemekasten, GabrielaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Witte, TorstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kreuter, AlexanderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Distler, Joerg H. W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schuerwegh, Annemie J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vonk, Madelon C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Voskuyl, Alexandre E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shiels, Paul G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Laar, Jacob M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fonseca, CarmenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Denton, ChristopherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Herrick, ArianeUNSPECIFIEDorcid.org/0000-0003-4941-7926UNSPECIFIED
Worthington, JaneUNSPECIFIEDorcid.org/0000-0003-0544-042XUNSPECIFIED
Assassi, ShervinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koeleman, Bobby P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mayes, Maureen D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radstake, Timothy R. D. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martin, JavierUNSPECIFIEDorcid.org/0000-0002-2202-0622UNSPECIFIED
URN: urn:nbn:de:hbz:38-450428
DOI: 10.1186/ar4432
Journal or Publication Title: Arthritis Res. Ther.
Volume: 16
Number: 1
Date: 2014
Publisher: BIOMED CENTRAL LTD
Place of Publication: LONDON
ISSN: 1478-6362
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
ACTIVATED RECEPTOR-GAMMA; PROFIBROTIC RESPONSES; GRAVES-DISEASE; RISK-FACTORS; SCLERODERMA; REPLICATION; LOCI; GENE; POPULATION; VARIANTSMultiple languages
RheumatologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/45042

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