AUTHOR=Kelchtermans Jelte , Chang Xiao , March Michael E. , Mentch Frank , Sleiman Patrick M. A. , Hakonarson Hakon 

TITLE=HIF-1α Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions

JOURNAL=Frontiers in Genetics

VOLUME=Volume 12 - 2021

YEAR=2021

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.756645

DOI=10.3389/fgene.2021.756645

ISSN=1664-8021

ABSTRACT=Despite experimental data linking HIF-1a dysfunction to inflammatory airway conditions, the effect of single nucleotide polymorphisms within the HIF1A gene on these conditions remains poorly understood. In the current study, we complete a phenotype wide association study to assess the link between SNPs with known disease associations and respiratory phenotypes. We report two SNPs of the HIF1A gene, the intronic rs79865957_G_A and the missense rs41508050_C_T. In these positions the A and the T allele are significantly associated with allergic rhinitis and acute bronchitis and bronchiolitis, respectively. These findings further support the role of HIF-1a in inflammatory pulmonary conditions and may serve as a basis to refine our understanding of other HIF-1a associated phenotypes.