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Association between severity and therapeutic response of asthmatic children with the adrenoreceptor 𝛃𝟐 gene - a study of the PACMAN cohort
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Resumo(s)
The 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.
Descrição
Trabalho de projeto de mestrado, Bioestatística, 2024, Universidade de Lisboa, Faculdade de Ciências
Palavras-chave
asma corticoides orais gene Adrenoreceptor-Beta 2 zero-inflated hurdle Trabalhos de projeto de mestrado - 2024