Document Type
Conference Paper/Presentation
Publication Date
11-2022
Advisor(s)
Bernabe Bustos, PhD; Northwestern University Feinberg School of Medicine
Steven Lubbe, PhD; Northwestern University Feinberg School of Medicine
Abstract
The genetic heritability of PD is estimated at around 24-60%, but studies examining this have treated samples of European ancestry as a collective.
- Historical trends, however, find that Northern and Southern tribes interbred between 440 and 1,080 CE; this leads to 2-100 different genetic ancestors in Europe today that are overlooked in these studies.
- This has resulted in a geographic divide in PD prevalence, where SE Europe is presumed to be at higher risk that NW Europe. However, this still does account for country-level variation within these larger regions.
- PCAs are commonly used to account for geographic variation like this, but they mask variation at specific chromosomes – to find chromosome-level variation, local ancestry calculations (LAC) must be used. These have previously been used to identify novel risk loci for groups such as Latinos in other conditions, but not for any group in PD.
This study is thus the first to apply LAC to PD, identifying variants that emerge differently across regions, but specifically at the chromosomal level.
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Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-No Derivative Works 4.0 International License.
Recommended Citation
Patel, D.
(2022).
A local ancestry-based assessment of common variants to finetune risk profiles of Parkinson’s disease (PD).
Retrieved from: https://digitalcommons.imsa.edu/student_pr/108