Influence of the rs2280091 variant of ADAM33 on lung function in patients with cystic fibrosis.

• Grant number: 24/20055-9
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: July 01, 2025
• End date: June 30, 2026
• Field of knowledge: Health Sciences - Medicine - Maternal and Child Health
• Principal Investigator: Fernando Augusto de Lima Marson
• Grantee: Vinícius Santiago dos Santos
• Host Institution: Universidade São Francisco (USF). Campus Bragança Paulista. Bragança Paulista , SP, Brazil

Abstract

Cystic fibrosis (CF) is a recessive genetic condition, predominantly observed in the Caucasian population, that continues to challenge medicine despite recent advances. Pathogenic variants in the CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator) are responsible for the manifestation of the disease, resulting in a range of phenotypes associated with different genetic variants. Although there is an intrinsic link between pathogenic variants in the CFTR gene and the severity of CF, part of the broad clinical phenotype is influenced by environmental factors and modifier genes. Among the candidate modifier genes related to clinical response is ADAM33 (ADAM Metallopeptidase Domain 33). The ADAM33 gene has the rs2280091 variant, which has been associated with asthma risk and bronchial hyperresponsiveness. In this context, the ADAM33 gene, fundamental in the pathophysiology of the respiratory tract, emerges as a potentially influential factor in lung function. Furthermore, the interplay between ADAM33 and CFTR suggests an additional complexity in understanding CF and highlights the importance of investigations to elucidate its precise role and potential therapeutic relevance, particularly regarding pulmonary disease. (AU)