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Association between severity and therapeutic response of asthmatic children with the adrenoreceptor 𝛃𝟐 gene - a study of the PACMAN cohort

datacite.subject.fosDepartamento de Estatística e Investigação Operacionalpt_PT
dc.contributor.advisorAntunes, Marília Cristina de Sousa, 1969-
dc.contributor.advisorSoares, Patrícia
dc.contributor.authorCaleiro, Maria Leonor Macedo
dc.date.accessioned2024-11-29T13:23:44Z
dc.date.available2024-11-29T13:23:44Z
dc.date.issued2024
dc.date.submitted2024
dc.descriptionTrabalho de projeto de mestrado, Bioestatística, 2024, Universidade de Lisboa, Faculdade de Ciênciaspt_PT
dc.description.abstractThe Pharmacogenetics of Asthma medication in Children: Medication with Anti-inflammatory effects was an observational retrospective study conducted in the Netherlands in 2009. Its purpose was to investigate how genetic variation affects the response of asthmatic children to medication and to identify (profiles of) SNPs associated with response phenotypes. Pharmacy records were linked to information of the children’s respiratory symptoms, medication use, sex, age, genetic traits and ethnicity. The focus of the study was to examine the relationship between asthma severity and a genetic variation – the Arg16Glu polymorphism of the Adrenoreceptor-Beta 2 gene. This gene influences the physiological response of the airways, as well as the clinical drug response and asthma exacerbations. To gauge asthma severity, the dispensing of oral corticosteroids prescriptions was used as a proxy, as they are commonly prescribed during uncontrolled asthma states. An additive genetic approach was considered, in which the polymorphism information was included as the number of copies of the minor allele. Zero-inflated and hurdle models with a Negative Binomial distribution were employed to characterize the response variable given the predominance of zero values and overdispersion found. The models considered the children’s age, gender, LTRA dispensing and time of participation in the study. The results indicated that the effect of the Arg16Glu polymorphism on the odds of not having OCS medication was significant only in the binary component of both models, although the zero-inflated model lacked uncertainty about the magnitude and direction of the effect. In both models, the existence of LTRA medication dispensing, the gender and its interaction with the age were found to have a significant effect on the rate of OCS medication dispensing.pt_PT
dc.identifier.tid203877772
dc.identifier.urihttp://hdl.handle.net/10400.5/95797
dc.language.isoengpt_PT
dc.subjectasmapt_PT
dc.subjectcorticoides oraispt_PT
dc.subjectgene Adrenoreceptor-Beta 2pt_PT
dc.subjectzero-inflatedpt_PT
dc.subjecthurdlept_PT
dc.subjectTrabalhos de projeto de mestrado - 2024pt_PT
dc.titleAssociation between severity and therapeutic response of asthmatic children with the adrenoreceptor 𝛃𝟐 gene - a study of the PACMAN cohortpt_PT
dc.typemaster thesis
dspace.entity.typePublication
rcaap.rightsopenAccesspt_PT
rcaap.typemasterThesispt_PT
thesis.degree.nameTrabalho de projeto em Bioestatísticapt_PT

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