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Author
Nicole Johnsen -
Discovery PI
April Armstrong
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Project Co-Author
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Abstract Title
Genome wide association study identifying genetic variants associated with atopic dermatitis in the All of Us Database
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Discovery AOC Petal or Dual Degree Program
Basic, Clinical, & Translational Research
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Abstract
Atopic Dermatitis (AD), a prevalent inflammatory skin condition, is known to have complex polygenic associations. Twin studies estimate AD heritability at approximately 75%, with the filaggrin (FLG) gene's loss-of-function mutations (located on chromosome 1q21.3) being the most potent known genetic risk factor. Prior studies have identified up to 81 potential susceptible genetic loci and 202 unique variants linked to AD. Despite this knowledge, a substantial portion of the genetic risk for AD remains unexplored, particularly in minority populations. This study leverages genome wide association study data from the diverse All of Us NIH-funded database, to provide valuable insight into the genetics of AD (case N = 2,907, control N = 242,481). Statistical analysis employed logistic regression to describe the association of gene prevalence with AD, while correcting for covariates such as sex, ethnicity, age, and comorbidities. Our analysis demonstrated (_____) statistically significant variants linked to AD, and reaffirmed numerous candidate gene associations present in the literature (such as ____). The most significant gene variant linked to AD with a p-value of ____ was _____, which plays a role in _____. These genetic findings uncover promising targets for advancing therapeutic interventions and precision medicine.