RT Journal Article
T1 An MIF Promoter Polymorphism Is Associated with Susceptibility to Pulmonary Arterial Hypertension in Diffuse Cutaneous Systemic Sclerosis.
A1 Bossini-Castillo, Lara
A1 Campillo-Davo, Diana
A1 Lopez-Isac, Elena
A1 Carmona, Francisco David
A1 Simeon, Carmen P
A1 Carreira, Patricia
A1 Callejas-Rubio, Jose Luis
A1 Castellvi, Ivan
A1 Fernandez-Nebro, Antonio
A1 Rodriguez-Rodriguez, Luis
A1 Rubio-Rivas, Manel
A1 Garcia-Hernandez, Francisco J
A1 Madroñero, Ana Belen
A1 Beretta, Lorenzo
A1 Santaniello, Alessandro
A1 Lunardi, Claudio
A1 Airo, Paolo
A1 Hoffmann-Vold, Anna-Maria
A1 Kreuter, Alexander
A1 Riemekasten, Gabriela
A1 Witte, Torsten
A1 Hunzelmann, Nicolas
A1 Vonk, Madelon C
A1 Voskuyl, Alexandre E
A1 de-Vries-Bouwstra, J
A1 Shiels, Paul
A1 Herrick, Ariane
A1 Worthington, Jane
A1 Radstake, Timothy R D J
A1 Martin, Javier
K1 MIF
K1 PULMONARY ARTERIAL HYPERTENSION
K1 SYSTEMIC SCLEROSIS
K1 rs755622
AB 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.
PB Journal of Rheumatology Publishing Co
SN 0315-162X
YR 2017
FD 2017-05-05
LK http://hdl.handle.net/10668/11365
UL http://hdl.handle.net/10668/11365
LA en
NO Bossini-Castillo L, Campillo-Davó D, López-Isac E, Carmona FD, Simeon CP, Carreira P, et al. An MIF Promoter Polymorphism Is Associated with Susceptibility to Pulmonary Arterial Hypertension in Diffuse Cutaneous Systemic Sclerosis. J Rheumatol. 2017 Oct;44(10):1453-1457
NO JM was funded by SAF2015-66761-P from the Spanish Ministry of Economy and Competitiveness. This study was also funded by PI-0590-2010, from Consejería de Salud y Bienestar Social, Junta de Andalucía, Spain. ELI was supported by Ministerio de Educación, Cultura y Deporte through the program FPU.
DS RISalud
RD Apr 7, 2025