Gene regulation of Hedgehog interacting protein (HHIP) in Chronic Obstructive Pulmonary Disease

Abstract

Chronic obstructive pulmonary disease (COPD) is estimated to become the third cause of mortality by 2030 (WHO., 2020). In PulmonDB (Villaseñor-Altamirano et al., 2020), a transcriptome database for pulmonary diseases, we found several genes with discordant gene expression pattern in COPD patients across studies, among these genes we found Hedgehog interacting protein(HHIP), a gene previously associated with COPD (Obeidat et al., 2015). In this project, we aim to assess if HHIP expression could be affected by regulatory variants. In order to do so, we retrieved genetic variants in the vicinity of HHIP loci reported in the literature. We found eQTLs with opposite effects on HHIP gene expression, 3 associated with overexpression (Obeidat et al., 2015; Wang et al and 2013 Fawcett et al., 2019) and 7 to downregulation(Zhou et al., 2013, Tam et al., 2019, Bartholo et al., 2019, Woo & Sang., 2015 & Lao et al., 2015).To assess if these genetic variants could be affecting transcription factor binding interactions we used RSAT Variation-tools with non-redundant Jaspar motifs, finding potential binding site modifications that could explain the variation of gene expression across experiments.