Airway wall splice quantitative trait locus analysis reveals novel downstream mechanisms for known asthma single-nucleotide polymorphisms

Tessa M Kole; Simon D Pouwels; Rene Bults; Marlies E Ketelaar; Victor Guryev; Lisanne Koll; Huib A M Kerstjens; Martijn C Nawijn; Alen Faiz; Maarten van den Berge

doi:10.1183/23120541.00413-2022

Airway wall splice quantitative trait locus analysis reveals novel downstream mechanisms for known asthma single-nucleotide polymorphisms

ERJ Open Res. 2023 Apr 3;9(2):00413-2022. doi: 10.1183/23120541.00413-2022. eCollection 2023 Mar.

Authors

Tessa M Kole^{1

2}, Simon D Pouwels^{1

2

3}, Rene Bults^{1

2}, Marlies E Ketelaar^{1

3

4}, Victor Guryev^{1

5}, Lisanne Koll^{1

3}, Huib A M Kerstjens^{1

2}, Martijn C Nawijn^{1

3}, Alen Faiz^{1

2

6

7}, Maarten van den Berge^{1

2

7}

Affiliations

¹ Groningen Research Institute for Asthma and COPD, Groningen, The Netherlands.
² Department of Pulmonology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
³ Department of Medical Biology and Pathology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
⁴ Department of Pediatrics, Division of Pediatric Pulmonology and Pediatric Allergology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
⁵ University of Groningen, European Research Institute for the Biology of Ageing, Groningen, The Netherlands.
⁶ Respiratory Bioinformatics and Molecular Biology, University of Technology Sydney, Sydney, NSW, Australia.
⁷ These authors contributed equally.

Abstract

Studying the effects of asthma SNPs on alternative splicing can lead to new insights into asthma pathophysiology. More specifically, a 17q12 SNP is associated to alternative splicing of GSDMB. https://bit.ly/3W49oTs.