Introduction

Asthma is a common childhood disease and several risk factors have been identified; however, the impact of genes and environment is not fully understood. Based on the Child and Adolescent Twin Study in Sweden (CATSS), which is part of the Swedish Twin Registry, parental interview at 9 or 12 years and an asthma and/or wheezing algorithm, we identified monozygotic (MZ) and dizygotic (DZ) same-sexed twin pairs. The twin pairs were classified as asthma concordant (ACC), asthma discordant (ADC) and healthy concordant (HCC). A sample of 9- to 14-year-old twins and their parents were invited to participate in a clinical examination. 

Background characteristics were collected in questionnaires and obtained from the National Health Registers. A clinical examination was performed to test lung function and capacity (spirometry with reversibility test and exhaled nitric oxide) and collect blood (serology, genomics, epigenomics, transcriptomics and proteomics), urine (metabolites), feces (microbiota), and saliva (cortisol). 

The data-collection is now completed and in total, 376 twin pairs (752 individual twins) contributed to the study, with a response rate of 52%. All participating twins answered the questionnaire and >90% participated in lung function testing, blood-, and saliva sampling. We have a number of ongoing and planned analyses in STOPPA and contribute towards consortia such as the Pregnancy And Childhood Epigenetics (PACE) and the Genomic Aggregation Project in Sweden (GAPS). Another collaborative project is the Systems pharmacology approach to difficult-to-treat pediatric asthma (SysPharmPediA) 

Investigators

• Catarina Almqvist, MD, PhD; PI, Department of Medical Epidemiology and Biostatistics, Karolinska Institutet
• Anna Hedman, PhD, Project cooordinator, Department of Medical Epidemiology and Biostatistics, Karolinska Institutet 
• Anne Örtqvist, MD, PhD; past project coordinator, Department of Medicine Karolinska Institutet. Department of Obstetrics and Gynecology, Visby Lasarett, Gotland, Sweden 

Responsible university or institution

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet. Nobels väg 12A, 171 77 Stockholm, Sweden

Collaborators

A System Pharmacology Multi-Omics Approach toward Uncontrolled Pediatric Asthma (SysPharmPediA)
The Pregnancy And Childhood Epigenetics (PACE)
The Genomic Aggregation Project in Sweden (GAPS)

Funders

Will be updated soon…

How to collaborate with STOPPA

We welcome fellow researchers to novel and innovative collaborations on research questions using data derived from the STOPPA cohort.

Contact information

Anna Hedman, PhD, Senior Research Specialist
Email: Anna.Hedman@ki.se

Catarina Almqvist, MD, Professor, PI
Email: Catarina.Almqvist@ki.se

Key publications

Shahbazi Khamas S, Van Dijk Y, Abdel-Aziz MI, Neerincx AH, Maarten Blankestijn J, Vijverberg SJH et al.; SysPharmPediA and U-BIOPRED Consortia. Exhaled Volatile Organic Compounds for Asthma Control Classification in Children with Moderate to Severe Asthma: Results from the SysPharmPediA Study. Am J Respir Crit Care Med. 2024 Nov 1;210(9):1091-1100. doi: 10.1164/rccm.202312-2270OC. PMID: 38648186. 

Mitselou N, Andersson N, Bergström A, Kull I, Georgelis A, van Hage M et al. Preterm birth reduces the risk of IgE sensitization up to early adulthood: A population-based birth cohort study. Allergy. 2022 May;77(5):1570-1582. doi: 10.1111/all.15077. Epub 2021 Sep 13. PMID: 34486741. 

Kere M, Gruzieva O, Ullemar V, Söderhäll C, Greco D, Kull I, et al. Effects of inhaled corticosteroids on DNA methylation in peripheral blood cells in children with asthma. Allergy. 2020 Mar;75(3):688-691. doi: 10.1111/all.14043. Epub 2019 Dec 11. PMID: 31498880. 

Ferreira MAR, Mathur R, Vonk JM, Szwajda A, Brumpton B, Granell R et al. Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. Am J Hum Genet. 2019 Apr 4;104(4):665-684. doi:10.1016/j.ajhg.2019.02.022. PMID: 30929738 

Reese SE, Xu CJ, den Dekker HT, Lee MK, Sikdar S, Ruiz-Arenas C et al. Epigenome-wide meta-analysis of DNA methylation and childhood asthma. J Allergy Clin Immunol. 2019 Jun;143(6):2062-2074. doi: 10.1016/j.jaci.2018.11.043. Epub 2018 Dec 21. PMID: 30579849 

Ferreira MAR, Vonk JM, Baurecht H, Marenholz I, Tian C, Hoffman JD et al. Eleven loci with new reproducible genetic associations with allergic disease risk. J Allergy Clin Immunol. 2019 Feb;143(2):691-699. doi: 10.1016/j.jaci.2018.03.012. Epub 2018 Apr 19. PMID: 29679657 

Felix JF, Joubert BR, Baccarelli AA, Sharp GC, Almqvist C, Annesi-Maesano I, et al. Cohort Profile: Pregnancy And Childhood Epigenetics (PACE) Consortium. Int J Epidemiol. 2018 Feb 1;47(1):22-23u. doi: 10.1093/ije/dyx190. Erratum in: Int J Epidemiol. 2018 Feb 1;47(1):24. doi:10.1093/ije/dyx220. PMID: 29025028 

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