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Association between the adrenoreceptor β2 gene and pediatric asthma severity – a study of the PACMAN cohort

2023-06Conference object Open access
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dc.contributor.authorCaleiro, Maria Leonor
dc.contributor.authorSoares, Patricia
dc.contributor.authorAntunes, Marilia
dc.date.accessioned2024-01-24T13:29:01Z
dc.date.available2024-01-24T13:29:01Z
dc.date.issued2023-06
dc.description.abstract"Pharmacogenetics of Asthma medication in Children: Medication with Anti-Inflammatory effects" (PACMAN) is an observational retrospective pharmacy-based study carried out in 2009, in the Netherlands, aiming to investigate the effects of genetic variation on treatment response to asthma medication in children and to identify (profiles of) SNPs that characterize response phenotypes. Data on respiratory symptoms and medication use, including medication type and amount, was collected from pharmaceutical records of asthmatic children and data on the children’s sex, age, genetic traits, and ethnicity. We aimed to assess the association between asthma severity and the Arg16Glu polymorphism of the β2 adrenoreceptor gene (ADRB2). This gene is expressed in bronchial muscle cells, which is involved in the physiological response of the airway response and has been associated with clinical drug response and asthma exacerbations. We used the PACMAN data and considered the dispensing of oral corticosteroid prescriptions as a proxy of the disease severity since corticoids are commonly used in uncontrolled asthmatic states (exacerbations). We considered two different genetic models – additive and genotypic, which can be translated for analysis purposes into a numeric format, corresponding to the number of copies of the minor allele, and categorical (each genotype representing a category), respectively. We used models of the class of the Generalized Linear Mixed Models for count data with excess of zeros, namely zero-inflated and hurdle models, considering a Negative Binomial distribution to account for overdispersion. Both models included the polymorphism in the zero and count components and were adjusted for children’s baseline characteristics. In both approaches to deal with the excess of zeros, a significant effect of the polymorphism was found only in the binary component of the models. In the count component, only sex and age showed a significant effect. This points towards the existence of an effect of the polymorphism in the presence of asthma exacerbations, with not shown effect in the frequency of OCS prescription.pt_PT
dc.description.sponsorshipThis work is partially financed by national funds through FCT – Fundação para a Ciência e a Tecnologia under the project UIDB/00006/2020.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/8961
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relationCentre of Statistics and its Applications
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectAsthmapt_PT
dc.subjectChildrenpt_PT
dc.subjectPharmacogeneticspt_PT
dc.subjectMedicationpt_PT
dc.subjectInfecções Respiratóriaspt_PT
dc.subjectAsmapt_PT
dc.subjectEstados de Saúde e de Doençapt_PT
dc.titleAssociation between the adrenoreceptor β2 gene and pediatric asthma severity – a study of the PACMAN cohortpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardTitleCentre of Statistics and its Applications
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00006%2F2020/PT
oaire.citation.conferencePlaceAveiro, Portugalpt_PT
oaire.citation.title5th Statistics on Health Decision Making: Personalized Medicine, 1-2 June 2023pt_PT
oaire.fundingStream6817 - DCRRNI ID
person.familyNameSoares
person.familyNamede Sousa Antunes
person.givenNamePatricia
person.givenNameMarilia Cristina
person.identifier1050496
person.identifierG-8864-2015
person.identifier.ciencia-id0415-632D-8609
person.identifier.ciencia-id1A16-4A6A-A8F9
person.identifier.orcid0000-0001-5033-9115
person.identifier.orcid0000-0002-1257-2829
person.identifier.scopus-author-id52063758300
person.identifier.scopus-author-id16300632900
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
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relation.isAuthorOfPublicationc5af0663-323f-4dac-80e9-ac418155d228
relation.isAuthorOfPublication.latestForDiscoverydf1b8bab-1e35-4561-92d0-8aeb17371a29
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