SMAD3 gene polymorphisms linked to sex-dependent asthma and allergy risk in Russian girls

Bronchial asthma (BA) is a prevalent inflammatory disorder, yet the precise immunogenetic and molecular mechanisms driving its risk and progression remain incompletely understood. Current diagnostic and therapeutic approaches often lack the specificity needed for personalized interventions, highlighting the critical need to identify robust biomarkers and genetic predispositions. The SMAD3 gene, a key regulator in the TGF-β signaling pathway involved in cell growth, differentiation, and immune responses, has been implicated in asthma susceptibility in prior genome-wide association studies, but its specific role and potential sex-dependent effects warrant further investigation. This study addresses the gap in understanding how specific SMAD3 variants contribute to asthma and allergy risk in a distinct population.

This study investigated the association of two single-nucleotide polymorphisms (SNPs), rs17293632 and rs2033784, within the SMAD3 gene with asthma and allergy risk. DNA samples were collected from 999 unrelated Russian children from the Kursk region, comprising 526 patients diagnosed with bronchial asthma (316 boys, 210 girls) and 473 healthy controls. SNP genotyping was performed using the MassARRAY-4 system to identify genetic variations. The primary endpoint was to determine the association of these SMAD3 variants with susceptibility to atopic asthma and allergen sensitivity, with subsequent sex-stratified and environmental analyses.