MUC5B基因的RS35705950多态性：与突尼斯人群类风湿关节炎和间质性肺病的关联

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

作者信息

Saad Azza, Baccouche Khadija, Fodha Hajer, Haj Khelil Amel, Fakhfakh Rym, Khalifa Dhouha, El Amri Nejla, Saad Ali, Bouajina Elyess

机构信息

University of Sousse, Faculty of Medicine of Sousse, Rheumatology Department, Farhat Hached Hospital, Sousse, Tunisia.

University of Monastir, Research laboratory, Faculty of Pharmacy of Monastir, Monastir, Tunisia.

出版信息

Tunis Med. 2024 Dec 5;102(12):1020-1024. doi: 10.62438/tunismed.v102i12.5024.

DOI:10.62438/tunismed.v102i12.5024

PMID:39748687

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11770791/

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.

摘要

引言

间质性肺病（ILD）是类风湿关节炎（RA）最常见的关节外表现。研究得出结论，MUC5B基因的rs35705950多态性与类风湿关节炎相关间质性肺病（RA-ILD）之间存在关联。

目的

在一组患有或未患有ILD的突尼斯类风湿关节炎患者队列中探索这种多态性，并研究其在类风湿关节炎期间与ILD的关联。

方法

一项病例对照研究，纳入61例类风湿关节炎患者，其中26例患有ILD，35例无肺部受累，以及62例健康对照。这是一项通过使用PCR-RFLP对rs35705950多态性进行基因分型的基因标记与RA-ILD之间的关联研究。

结果

未发现rs35705950多态性与类风湿关节炎之间存在关联。然而，RA-ILD患者与对照组的比较显示，rs35705950多态性的等位基因频率存在显著关联（p = 0.008；OR = 2.61；CI [1.2 - 5.66]）。实际上，与对照组相比，RA患者中次要的T等位基因使发生ILD的风险增加了2.61倍。RA-ILD患者与无ILD的RA患者的等位基因频率比较显示，所研究多态性的次要T等位基因与RA-ILD之间存在显著关联（p = 0.02；OR = 2.66；CI [1.09 - 6.5]）。在调整模型中，吸烟（p = 0.025；OR = 3.84；CI [,13 - 13.08]）和/或女性性别（p = 0.013；OR = 4.63；CI [1.33 - 16.17]）时这种风险增加。