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dc.contributor.advisorOleksyk, Taras K.
dc.contributor.authorRivera, Israel
dc.date.accessioned2017-12-06T18:16:48Z
dc.date.available2017-12-06T18:16:48Z
dc.date.issued2015
dc.identifier.urihttps://hdl.handle.net/20.500.11801/98
dc.description.abstractAsthma is one of the most recognized complex human disorders, characterized by an airway obstruction due to an exacerbated immune response. Currently, it affects around 300 million people worldwide, showing an increased prevalence over the past 2 decades particularly in developed countries, and has been recognized as one of the major public health problems worldwide. However, there is an uncertainty to the contribution of genetic and environmental factors to the disease. In Puerto Rico, asthma prevalence rose by 15% between 2000 and 2007, reaching an alarming 20% in 2003, making Puerto Rico a population with one of the highest prevalence worldwide. Since the condition often shows increased frequencies in the populations with African ancestry around 12-14% (Afro-Americans), and since Puerto Ricans share on average a 21.2% of African ancestry, it has been suggested that a genetic factor of African origin might be involved. In this thesis, we used a two-tier experimental strategy: (1) a candidate gene approach to confirm genetic associations and (2) an admixture approach to test for associations of the asthma phenotype with one of the three common ancestries on the island (European, African, and Native American). Using the candidate gene approach, we confirmed a positive association between ORMDL3 (rs8076131) and asthma morbidity, showing a higher SNP call rate for the minor allele in Puerto Rican individuals with asthma. However, contrary to the original expectation, but in line with the current literature, our results also suggested an association with a higher European ancestry. In conclusion, our results confirmed the role of ancestry in the genetics of asthma among Puerto Ricans, and supported the importance of population genetic characterization in order to fully capture the elements involved in asthma pathogenesis.
dc.description.abstractAsma es una de las enfermedades complejas más reconocidas, caracterizada por una obstrucción de las vías respiratorias debido a una respuesta inmune exacerbada. Hoy día, afecta alrededor de 300millones de personas alrededor del mundo, incrementando su prevalencia por las pasadas 2 décadas, particularmente en países desarrollados. No obstante, hay un alto grado de incertidumbre entre la contribución genética y la contribución ambiental. En Puerto Rico, la prevalencia en asma a aumentado un 15% durante el 2000 y 2007, hasta llegar a un 20% en el 2003, siendo Puerto Rico uno de los países con la más altas tasa de prevalencia a nivel mundial. Dado que se han observado una alta prevalencia en poblaciones de origen Africano (12%-14%), y Puerto Rico comparte en promedio un 21.2% de origen Africano, se ha sugerido que un factor genético puede ser responsable de la observada prevalencia en la isla. En esta tesis, utilizamos dos estrategias experimentales: 1) observamos la asociación entre mestizaje y prevalencia utilizando genes candidatos comparados simultáneamente con marcadores informativos genéticos que permiten calcular el promedio de mestizaje en los individuos de interés. Utilizando este método, confirmamos una asociación positiva entre ORMDL3 (rs8076131) y la prevalencia de asma, observando una mayor frecuencia alélica para este polimorfismo en individuos con asma. Por otro lado, contrario a lo esperado originalmente, pero concordante con literatura previa, nuestros resultados sugieren una asociación con individuos que presentan un mayor origen ancestral Europeo. En conclusión, nuestros resultados confirman el rol de mestizaje en la genética de asma en la isla entre los Puertorriqueños, y denota la importancia de caracterizar a la población a manera de capturar los elementos envueltos en la patogenicidad de asma.
dc.language.isoenen_US
dc.subjectasthma phenotypeen_US
dc.subjectasthmaen_US
dc.subject.lcshAsthma--Puerto Rico--Genetics aspectsen_US
dc.subject.lcshPhenotypeen_US
dc.subject.lcshAsthmatics--Puerto Ricoen_US
dc.subject.lcshHuman genetics--Variationen_US
dc.titleAsthma and genetics of admixture in Puerto Ricansen_US
dc.typeThesisen_US
dc.rights.licenseAll rights reserveden_US
dc.rights.holder(c)2015 Israel Riveraen_US
dc.contributor.committeeMartínez-Cruzado, Juan C.
dc.contributor.committeeSuarez, Edu
dc.contributor.representativeOrtiz-Rios, Gloribell
thesis.degree.levelM.S.en_US
thesis.degree.disciplineBiologyen_US
dc.contributor.collegeCollege of Arts and Sciences - Sciencesen_US
dc.contributor.departmentDepartment of Biologyen_US
dc.description.graduationSemesterSpringen_US
dc.description.graduationYear2015en_US


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    Items included under this collection are theses, dissertations, and project reports submitted as a requirement for completing a graduate degree at UPR-Mayagüez.

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