Undergraduate Student, Arizona State University
1 active project
Correlation Between ALPL Polymorphisms and Gynecological Disorders
Scientific Questions Being Studied
The scientific question studied using this data is: Is there evidence to support a correlation between polymorphisms in the gene ALPL known to cause Hypophosphatasia, such as rs121918007, and the prevalence of gynecological disorders in women? A previous study done by Dahir et al. discovered this correlation using DNA from the Vanderbilt BioBank. The use of All of Us data is intended to expand upon this correlation to see if it is present nationally, not just locally in one institution's samples. This question is important because, though the correlation of these polymorphisms with gynecological disorders does not imply causation, asking this question could lay a path to determine that causation (if any) in the future. This is especially important considering the exclusion of women in scientific research. When correlations like this are found, it is important to expand on them in order to improve scientific knowledge about women's health and how to manage it.
- Disease Focused Research (gynecological disorders)
I plan to build cohorts of diagnosis codes with and compare them with cohorts of specific genomic data, then use Jupyter Notebook to analyze any correlation present between the two groups. The goal with this is to see if there is any correlation with people having ALPL polymorphisms present in their genome also being diagnosed with gynecological disorders. I hope to keep the sample population limited to people assigned female at birth, but keep the rest of the demographic information broad to see any trends that may arise.
I anticipate to find a greater prevalence of gynecological disorders in people who have polymorphisms in their ALPL gene that are known to cause Hypophosphatasia. This would further expand on previous literature discovering this correlation, and could allow for scientists to begin researching any potential causation that may be present. These potential causation studies, with this correlation as a backbone, could lead to improved risk assessment techniques for women. They may improve diagnostic techniques and potentially even treatment options for women with these disorders.
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set UsedControlled Tier
- Sydney Pickett - Undergraduate Student, Arizona State University
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