Bossini-Castillo, Lara ORCID: 0000-0002-5471-5824, Campillo-Davo, Diana ORCID: 0000-0002-6080-3935, Lopez-Isac, Elena ORCID: 0000-0001-8806-5148, David Carmona, Francisco, Simeon, Carmen P., Carreira, Patricia, Luis Callejas-Rubio, Jose, Castellvi, Ivan ORCID: 0000-0002-5410-5807, Fernandez-Nebro, Antonio ORCID: 0000-0002-2962-9844, Rodriguez-Rodriguez, Luis, Rubio-Rivas, Manel, Garcia-Hernandez, Francisco J., Belen Madronero, Ana, Beretta, Lorenzo ORCID: 0000-0002-6529-6258, Santaniello, Alessandro, Lunardi, Claudio, Airo, Paolo, Hoffmann-Vold, Anna-Maria, Kreuter, Alexander, Riemekasten, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Vonk, MadeIon C., Voskuyl, Alexandre E., de Vries-Bouwstra, J., Shiels, Paul ORCID: 0000-0002-7577-9843, Herrick, Ariane, Worthington, Jane, Radstake, Timothy R. D. J. and Martin, Javier ORCID: 0000-0002-2202-0622 (2017). An MIF Promoter Polymorphism Is Associated with Susceptibility to Pulmonary Arterial Hypertension in Diffuse Cutaneous Systemic Sclerosis. J. Rheumatol., 44 (10). S. 1453 - 1458. TORONTO: J RHEUMATOL PUBL CO. ISSN 1499-2752

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Abstract

Objective. Systemic sclerosis (SSc) is a fibrotic immune-mediated disease of unknown etiology. Among its clinical manifestations, pulmonary involvement is the leading cause of mortality in patients with SSc. However, the genetic factors involved in lung complication are not well defined. We aimed to review the association of the MIF gene, which encodes a cytokine implicated in idiopathic pulmonary hypertension among other diseases, with the susceptibility and clinical expression of SSc, in addition to testing the association of this polymorphism with SSc-related pulmonary involvement. Methods. A total of 4392 patients with SSc and 16,591 unaffected controls from 6 cohorts of European origin were genotyped for the MIF promoter variant rs755622. An inverse variance method was used to metaanalyze the data. Results. A statistically significant increase of the MIF rs755622*C allele frequency compared with controls was observed in the subgroups of patients with diffuse cutaneous SSc (dcSSc) and with pulmonary arterial hypertension (PAH) independently (dcSSc: p = 3.20E-2, OR 1.13; PAH: p = 2.19E-02, OR 1.32). However, our data revealed a stronger effect size with the subset of patients with SSc showing both clinical manifestations (dcSSc with PAH: p = 6.91E-3, OR 2.05). Conclusion. We reviewed the association of the MIF rs755622*C allele with SSc and described a phenotype-specific association of this variant with the susceptibility to develop PAH in patients with dcSSc.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Bossini-Castillo, LaraUNSPECIFIEDorcid.org/0000-0002-5471-5824UNSPECIFIED
Campillo-Davo, DianaUNSPECIFIEDorcid.org/0000-0002-6080-3935UNSPECIFIED
Lopez-Isac, ElenaUNSPECIFIEDorcid.org/0000-0001-8806-5148UNSPECIFIED
David Carmona, FranciscoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simeon, Carmen P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Carreira, PatriciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Luis Callejas-Rubio, JoseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Castellvi, IvanUNSPECIFIEDorcid.org/0000-0002-5410-5807UNSPECIFIED
Fernandez-Nebro, AntonioUNSPECIFIEDorcid.org/0000-0002-2962-9844UNSPECIFIED
Rodriguez-Rodriguez, LuisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rubio-Rivas, ManelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia-Hernandez, Francisco J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Belen Madronero, AnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beretta, LorenzoUNSPECIFIEDorcid.org/0000-0002-6529-6258UNSPECIFIED
Santaniello, AlessandroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lunardi, ClaudioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Airo, PaoloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoffmann-Vold, Anna-MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kreuter, AlexanderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riemekasten, GabrielaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Witte, TorstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hunzelmann, NicolasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vonk, MadeIon C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Voskuyl, Alexandre E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Vries-Bouwstra, J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shiels, PaulUNSPECIFIEDorcid.org/0000-0002-7577-9843UNSPECIFIED
Herrick, ArianeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Worthington, JaneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radstake, Timothy R. D. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martin, JavierUNSPECIFIEDorcid.org/0000-0002-2202-0622UNSPECIFIED
URN: urn:nbn:de:hbz:38-215690
DOI: 10.3899/jrheum.161369
Journal or Publication Title: J. Rheumatol.
Volume: 44
Number: 10
Page Range: S. 1453 - 1458
Date: 2017
Publisher: J RHEUMATOL PUBL CO
Place of Publication: TORONTO
ISSN: 1499-2752
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
MIGRATION INHIBITORY FACTOR; FACTOR GENE; AUTOIMMUNITY; EXPRESSION; SUBSETSMultiple languages
RheumatologyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/21569

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