Kimberlyn Ellis

Graduate Trainee, Vanderbilt University

1 active project

Identifying Sex-by-Ancestry Interactions on Asthma

Asthma demonstrates high prevalence with both sex and ancestry disparities apparent in the United States. Previous studies have identified X chromosome variants as possible contributors to existing sex disparities in asthma prevalence. Existing literature also indicates that individuals with African…

Scientific Questions Being Studied

Asthma demonstrates high prevalence with both sex and ancestry disparities apparent in the United States. Previous studies have identified X chromosome variants as possible contributors to existing sex disparities in asthma prevalence. Existing literature also indicates that individuals with African ancestry, including African Americans, bear greater asthma risk than individuals of European and Native American ancestry. Local ancestry estimates on the X chromosome differ greatly within African descent populations. Despite the awareness of how sex and ancestry separately influence asthma susceptibility, existing literature fails to examine their interaction. Previous literature often fails to thoroughly examine asthma susceptibility in individuals of African descent, contributing to inequitable advancements in precision medicine and further driving health disparities. We hypothesize that sex moderates the effect of ancestry-specific X chromosome risk factors for asthma susceptibility.

Project Purpose(s)

  • Disease Focused Research (asthma)

Scientific Approaches

We will leverage data from the All of Us Research Program, an NIH initiative to increase the diversity of participants in genetics and genomics research. We will also use RFMix to characterize local ancestry across the X chromosome. Furthermore, we will utilize Tractor to elucidate local-ancestry specific variants identified with asthma, improve power, and cut down on multiple testing corrections. Lastly, we will fit logistic regression models to test the independent, joint, and modifying (i.e., interaction) effects of sex and local ancestry at known X chromosome risk variants.

Anticipated Findings

Anticipated findings include the following:
- Quantification of the independent, joint, and interaction effects of sex and genetic ancestry on asthma prevalence in individuals with African ancestry
- Identification of local-ancestry specific variants identified with asthma
- Quantification of the modifying effects of environmental risk factors on genetic risk for asthma in individuals with African ancestry

Results will be shared along with lessons learned regarding the unique challenges of local ancestry assignment on the X chromosome in a large biobank sample.

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Registered Tier

Research Team

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