RT info:eu-repo/semantics/masterThesis
T1 Identification of genetic variants associated with asthma exacerbations in Puerto Ricans
A1 Herrera Luis, Esther
A2 Máster Universitario en Biomedicina Por la Universidad de la Laguna
AB Asthma exacerbations are a complex trait that largely varies among populations. In theUnited States, childhood asthma prevalence and exacerbation rates are highest in Puerto Ricans,followed by African Americans, and lowest in Mexicans. Interestingly, Puerto Ricans have a highcomponent of African ancestry. Although it is known that both environmental and genetic factors areinvolved in asthma exacerbations, no previous study has identified genes associated with thispathology in Puerto Rican populations. Here, we aimed to identify genetic variants associated withasthma exacerbations among Puerto Ricans and to assess whether they are also relevant in Mexicansor African Americans. For that, we performed a genome-wide association study (GWAS) of asthmaexacerbations in 1,140 Puerto Ricans analyzing 10.6 million genetic variants across the genomeobtained by means of imputation using existing genome-wide genotyping data. A total of 4 variantswere genome-wide significantly associated with asthma exacerbation in Puerto Ricans (p≤1.83x10-7)and 43 additional variants were suggestively associated (p≤5x10-6). Variants reaching genome-widesignificance were followed up for replication in 875 African Americans and 658 Mexicans.However, none of the variants was significantly associated in these populations. Therefore, weidentified several genetic variants genome-wide associated with asthma exacerbations in PuertoRicans that might be population-specific. No effect of asthma severity (measured as the treatmentstep applied to the patient) over these variants was detected.
YR 2021
FD 2021
LK http://riull.ull.es/xmlui/handle/915/23637
UL http://riull.ull.es/xmlui/handle/915/23637
LA en
DS Repositorio institucional de la Universidad de La Laguna
RD 23-abr-2024