RS35705950 polymorphism of MUC5B Gene: Association with Rheumatoid Arthritis and Interstitial lung disease in Tunisian Population

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Figure 1. RFLP-PCR products of MUC5B promoter polymorphism. GG genotypes are deduced in presence of two fragments (355 and 81 bp); TT genotypes are deduced with the unique 436 bp undigested fragment. GT genotypes are deduced in presence of the three fragments.
Published Dec 1, 2024
https://doi.org/10.62438/tunismed.v102i12.5024
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Vol. 102 No. 12 (2024): Tunis Med dec 2024

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Azza Saad
Rheumatology Department, Farhat Hached Hospital, Faculty of Medicine of Sousse,University of Sousse, Sousse, Tunisia
Khadija Baccouche
Rheumatology Department, Farhat Hached Hospital, Faculty of Medicine of Sousse,University of Sousse, Sousse, Tunisia
Hajer Fodha
Research laboratory, Faculty of Pharmacy of Monastir,University of Monastir, Monastir, Tunisia
Amel Haj Khelil
Research laboratory, Faculty of Pharmacy of Monastir,University of Monastir, Monastir, Tunisia
Rym Fakhfakh
Rheumatology Department, Farhat Hached Hospital, Faculty of Medicine of Sousse,University of Sousse, Sousse, Tunisia
Dhouha Khalifa
Rheumatology Department, Farhat Hached Hospital, Faculty of Medicine of Sousse,University of Sousse, Sousse, Tunisia
Nejla El Amri
Rheumatology Department, Farhat Hached Hospital, Faculty of Medicine of Sousse,University of Sousse, Sousse, Tunisia
Ali Saad
Genetic Department, Faculty of Medicine of Sousse, University of Sousse, Sousse, Tunisia
Elyess Bouajina
Rheumatology Department, Farhat Hached Hospital, Faculty of Medicine of Sousse,University of Sousse, Sousse, Tunisia

Abstract

Introduction: Interstitial lung disease (ILD) is the most common extra-articular manifestation in rheumatoid arthritis (RA). Studies have concluded that there is an association between rs35705950 polymorphism of the MUC5B gene and RA-ILD.


Aim: To explore this polymorphism in a cohort of Tunisian patients suffering from RA with or without ILD and stufdy its association to ILD during RA.


Methods : A case-control study involving 61 patients followed for RA, 26 with ILD and 35 without pulmonary involvement and 62 healthy controls. This was an association study between genetic marker and RA-ILD by genotyping the rs35705950 polymorphism using PCR-RFLP.


Results: No association was found between rs35705950 polymorphism and RA. However, the comparison of RA-ILD patients with controls showed a significant association with the allele frequencies of rs35705950 polymorphism (p=0.008; OR=2.61; CI [1.2-5.66]). Indeed, the minor T allele increased the risk of developing ILD by 2.61 for RA patients compared to the controls. Comparison of allele frequencies in RA-ILD patients and RA patients without ILD showed a significant association between the minor T allele of the studied polymorphism and RA-ILD (p= 0.02; OR= 2.66; CI [1.09-6.5]). In the adjusted model, this risk increased in case of smoking (p=0.025; OR=3,84; CI [1,13-13,08]) and/or female gender (p=0.013; OR = 4,63; CI [1,33-16,17]).


Conclusion: Our work has confirmed the role of the polymorphism of MUC5B promoter in the appearance of ILD during RA in Tunisian patients. This variant could be used to early detect preclinical ILD in patients with RA.

Keywords:

rheumatoid arthritis, interstitial lung disease, genetic polymorphism, mucin 5b

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