IL1B Gene Variants, but Not TNF, CXCL8, IL6 and IL10, Modify the Course of Cystic Fibrosis in Polish Patients

Overview

Journal F1000Res

Specialties Biomedical Engineering
Science

Date 2024 Aug 26

PMID 39185143

Authors

Oliwia Zakerska-Banaszak

Joanna Gozdzik-Spychalska

Marcin Gabryel

Joanna Zuraszek

Marzena Skrzypczak-Zielinska

Ryszard Slomski

Agnieszka Dobrowolska

Tomasz Piorunek

Halina Batura-Gabryel

Affiliations

Soon will be listed here.

Abstract

The main aim of this study was to evaluate whether selected polymorphic variants in genes from the inflammatory pathway can be predictors of pulmonary or digestive manifestation of cystic fibrosis, as well as of severity of lung disease. Using pyrosequencing and sequencing we have genotyped 12 variants in (rs361525, rs1800629), (rs4073, rs2227306, rs2227307, rs188378669), (rs16944, rs1143634, rs1142639, rs1143627), (rs1800795) and (rs1800896) genes in a cohort of 55 Polish patients with diagnosed cystic fibrosis and controls. In our study group, a pulmonary manifestation of disease revealed 44 of subjects (80%), and digestive symptoms dominated in 11 (20%) of analyzed individuals. Severe lung dysfunction has occurred in 20 (36.4%) of patients. We proved, that two promoter variants of rs1143627 (c.-118G > A) and rs16944 (c.-598T > C) are presented significantly more often in patients with severe character of lung disease compared to mild (82.5% 62.8%, p-value 0.030, and 87.5% 64.3%, p-value 0.008, respectively) in cystic fibrosis course. Haplotype AC formed by both changes had also a higher frequency (80%) in patients with severe course compared to the mild character (61.4%) of disease. However, the frequency of promoter variant c.-308C > T (rs1800629) was presented at a significantly lower level in the patient's group compared to healthy controls (2.7% 15%, p-value 0.001). Furthermore, the presence of methicillin-resistant significantly correlated with the lower FEV1% in patients (p-value 0.01). Genetic variants, rs1143627 and rs16944, of are promising candidates as predictors of the severe character of lung disease in Polish patients with cystic fibrosis.

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