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Title: An MIF Promoter Polymorphism Is Associated with Susceptibility to Pulmonary Arterial Hypertension in Diffuse Cutaneous Systemic Sclerosis.
Authors: Bossini-Castillo, Lara
Campillo-Davó, Diana
López-Isac, Elena
Carmona, Francisco David
Simeon, Carmen P
Carreira, Patricia
Callejas-Rubio, José Luis
Castellví, Iván
Fernández-Nebro, Antonio
Rodríguez-Rodríguez, Luis
Rubio-Rivas, Manel
García-Hernández, Francisco J
Madroñero, Ana Belén
Beretta, Lorenzo
Santaniello, Alessandro
Lunardi, Claudio
Airó, Paolo
Hoffmann-Vold, Anna-Maria
Kreuter, Alexander
Riemekasten, Gabriela
Witte, Torsten
Hunzelmann, Nicolas
Vonk, Madelon C
Voskuyl, Alexandre E
de Vries-Bouwstra, J
Shiels, Paul
Herrick, Ariane
Worthington, Jane
Radstake, Timothy R D J
Martin, Javier
Spanish Scleroderma Group
metadata.dc.subject.mesh: Alleles
Gene Frequency
Genetic Association Studies
Genetic Predisposition to Disease
Hypertension, Pulmonary
Intramolecular Oxidoreductases
Macrophage Migration-Inhibitory Factors
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Scleroderma, Diffuse
Issue Date: 1-Jul-2017
Abstract: 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. 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. 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). 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.
metadata.dc.identifier.doi: 10.3899/jrheum.161369
ISSN: 0315-162X
Appears in Collections:Producción 2020

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