Asthma as an Environmental Disease: The Hunt for Easily Accessible Biomarkers Using Monozygotic Twins

Presenter: Alani Estrella

Faculty Mentor: Ivana Yang

Presentation Type: Oral

Primary Research Area: Science

Major: Biochemistry

Funding Source: 1R25HL103286-05, National Institutes of Health, Unknown – Program through the University of Colorado-Anschutz Medical Campus, The Graduate Experience for Multicultural Scholars (GEMS); P01- ES18181, The National Institute of Health and Sciences, Unknown; R01-HL101251, The National Heart, Lung, and Blood Institute, Unknown

Asthma is a complicated, poorly understood, immune-related disease that disproportionally affects children and minorities across the globe. Currently, the most accurate method of diagnosing asthma is to take a section from the lungs. Thus, there is a need to determine accurate and safe biomarkers for children in order to provide more accurate diagnoses, as well as to unravel the mechanism behind the manifestation of asthma. Recent studies have suggested that environmental factors such as air pollution can cause DNA modifications (DNA methylation), which have been correlated with asthma. Here, we chose to use monozygotic twins since they share the same genetic information, thus making it easier to determine the environment’s effect on DNA methylation. To see if biomarkers can be found through less invasive methods, we extracted nasal epithelia from monozygotic twins who were either concordant for asthma, discordant for asthma, or concordant for non-asthma (n=24 pairs). We recently showed that large immune- related regions within the DNA were differently methylated between asthmatics and non-asthmatics. To further validate this finding, we used a more focused method to attempt to correlate DNA methylation changes with changes in the expression of immune-related genes. We determined that, while all measured methylations validated our previous findings, few were correlated with asthma and changes in expression in this small cohort. We suspect that specific DNA methylation changes within these regions are correlated to asthma in children. Future studies will use a larger cohort of monozygotic twins discordant for asthma (n=200 pairs) to determine which methylation sites may be related to asthma.