SNPs in genes involved in sweet taste perception and intake (SweetG) are associated with Primary Ciliary Dyskinesia (PCD) and related phenotypes

Background: PCD is a congenital motile ciliopathy caused by impaired mucociliary clearance, characterized by recurrent respiratory infections affectingboth the upper and lower airways. Many genes involved in taste perception pathways are expressed in extra oral tissues and have recently emerged asregulators of airway immune responses. The aims of this study were to determine if SNPs in SweetG are more/less frequent in PCD patients, and verify theirassociation with PCD clinical characteristics. Material and Methods: A list of seven SNPs in six SweetG have been tested for differences in allele frequencybetween PCD patients and gnomAD v4.1.0 using binomial test. Logistic and linear regression models have been performed to study the associationbetween SNPs and PCD patients’ clinical features. Results: A cohort of 34 PCD patients (6-69y, 56% female) was included in the study. The minor allele ofrs5415 ( SLC2A4 gene) was less frequent in PCD patients than gnomAD (p<0.05). As regard PCD patients’ clinical features, we found that rs5415 was associated with a greater presence of chronic rhinosinusitis (p<0.05). In addition, rs7534618 ( TAS1R2 gene) was associated with the presence of situsinversus, and rs17457384 ( GABRB2 gene) was associated with a decreased respiratory function (FEV 1 ). Conclusion: This study shows association between SweetG and specific PCD clinical features. The significance of these findings is not yet fully understood; however, thisrepresents a promising area of research to enhance our understanding of PCD and elucidate the genetic basis of respiratory infections associated with this disease.