Despite experimental data linking HIF-1α 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 and the missense rs41508050. 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-1α in inflammatory pulmonary conditions and may serve as a basis to refine our understanding of other HIF-1α associated phenotypes.

尽管实验数据将 HIF-1α 功能障碍与炎症性气道状况联系起来，但单核苷酸多态性在气道内的影响HIF1A这些条件下的基因仍然知之甚少。在目前的研究中，我们完成了一项表型广泛的关联研究，以评估 SNP 与已知疾病关联和呼吸表型之间的联系。我们报告了两个 SNPHIF1A基因、内含子 rs79865957 和错义 rs41508050。在这些位置，A 和 T 等位基因分别与过敏性鼻炎和急性支气管炎和细支气管炎显着相关。这些发现进一步支持了 HIF-1α 在炎症性肺部疾病中的作用，并可以作为完善我们对其他 HIF-1α 相关表型的理解的基础。