MUC5B Polymorphism and Susceptibility to Idiopathic Pulmonary Fibrosis in Morocco

TL;DR

This study shows that a specific genetic variant, MUC5B rs35705950, is strongly linked to idiopathic pulmonary fibrosis in Morocco, a first for African populations.

Contribution

First investigation in Africa confirming the MUC5B rs35705950 SNP as a major risk factor for IPF.

Findings

The MUC5B rs35705950 SNP was significantly associated with IPF (p = 0.0001).

Most patients were male, with a mean age of 67.72 years and a median survival of 4.75 years.

70.9% of patients showed definite usual interstitial pneumonia on radiological assessment.

Abstract

Background: Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive interstitial lung disease of unknown etiology. It has been demonstrated in European, American, and Asian populations that genetic factors, particularly the MUC5B rs35705950 SNP, represent a significant risk factor for the development of this disease. To date, no studies have been performed within African populations, thereby necessitating the execution of the present investigation.

Methods: A case-control study was conducted from September 2021 to May 2024. It included 55 patients diagnosed with IPF and 61 control subjects. Comprehensive demographic, clinical, radiological, functional, and therapeutic data were collected. Additionally, genetic analysis for the MUC5B rs35705950 SNP was carried out in the genetic department of the University Hospital Hassan II of Fez (Morocco).

Results: The patient cohort predominantly consisted of men, with a sex ratio of 49 men to six women. The mean age was 67.72 ± 6.406 years. Of the subjects, 58.2% were former smokers. Dyspnea was the most prevalent symptom (89.1%). Radiological assessments revealed that 70.9% of patients exhibited definite usual interstitial pneumonia. The median survival time was recorded at 4.75 years. Statistical analysis indicated a significant association between the MUC5B rs35705950 SNP and IPF (p = 0.0001).

Conclusions: This study confirms that the MUC5B rs35705950 SNP is a major risk factor for IPF within the African population. It represents the first investigation of its kind on the African continent, with the hope that it will motivate further research efforts in Africa to yield more representative data.