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Master Thesis

Association entre le variant rs35705950 du promoteur de MUC5B et la pneumopathie interstitielle diffuse associée à la polyarthrite rhumatoïde

Abstract : Background: given phenotypic similarities between rheumatoid arthritis–associated interstitial lung disease (RA-ILD) and idiopathic pulmonary fibrosis (IPF), we hypothesized that the strongest risk factor for the development of IPF, the gain-of-function MUC5B promoter variant rs35705950, would also contribute to the risk of ILD in patients with RA. Methods: using a discovery population and multi-ethnic validation case series, we tested the association of the MUC5B promoter variant in RA-ILD (N=620), RA without ILD (N=614), and unaffected controls (N=5448). Results: the discovery population revealed an association of the MUC5B rs35705950 minor allele with RA-ILD when compared to unaffected controls (OR=3.8 95%CI[2.8-5.2]; P=9.7x10-17). Similar to the discovery population, MUC5B rs35705950 was significantly over-represented among the RA-ILD cases in the multi-ethnic study case series when compared to unaffected controls (OR=5.5 95%CI[4.2-7.2]; P=4.7x10-35), and when the discovery population and the multi-ethnic case series were combined (ORcombined=4.7 95%CI[3.9-5.8]; P=1.3x10-49). Additionally, MUC5B rs35705950 was found to increase the risk of ILD among patients with RA (ORcombined=3.1 95%CI[1.8-5.4]; P=7.4x10-5), however, no statistical association with MUC5B rs35705950 was observed for RA alone. The association of MUC5B rs35705950 with RA-ILD increased significantly when restricted to usual interstitial pneumonia (UIP) pattern by high-resolution computed tomography (ORcombined=6.1 95%CI[2.9-13.1]; P=2.5x10-6). In exploratory analyses, we found that other IPF risk variants (TOLLIP rs5743890 and IVD rs2034650) were also preliminarily associated with RA-ILD. Conclusion: our findings demonstrate that MUC5B rs35705950 is a risk factor for RA-ILD specifically associated with radiologic evidence of UIP.
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Master Thesis
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Submitted on : Thursday, May 6, 2021 - 4:01:13 PM
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  • HAL Id : dumas-03210803, version 1


Pierre-Antoine Juge. Association entre le variant rs35705950 du promoteur de MUC5B et la pneumopathie interstitielle diffuse associée à la polyarthrite rhumatoïde. Médecine humaine et pathologie. 2019. ⟨dumas-03210803⟩



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