Rivera, Israel

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    Asthma and genetics of admixture in Puerto Ricans
    (2015) Rivera, Israel; Oleksyk, Taras K.; College of Arts and Sciences - Sciences; Martínez-Cruzado, Juan C.; Suarez, Edu; Department of Biology; Ortiz-Rios, Gloribell
    Asthma 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.