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 Detalle_Publicacion

An MIF Promoter Polymorphism Is Associated with Susceptibility to Pulmonary Arterial Hypertension in Diffuse Cutaneous Systemic Sclerosis

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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: J Rheumatol. 2017 Oct;44(10):1453-1457

Editorial: The Journal of Rheumatology Publishing Company Limited

 Año de publicación: 2017

Nº de páginas: 5

Tipo de publicación: Artículo de Revista

 DOI: 10.3899/jrheum.161369

ISSN: 0315-162X

 Proyecto español: SAF2015-66761-P

Autoría

BOSSINI CASTILLO, LARA

CAMPILLO DAVÓ, DIANA

LÓPEZ ISAC, ELENA

DAVID CARMONA, FRANCISCO

SIMEÓN, CARMEN P

CARREIRA, PATRICIA

CALLEJAS RUBIO, JOSÉ LUIS

CASTELLVIL, IVAN

FERNANDEZ NEBRO, ANTONIO