Abstract Details

Title Genome-Wide Association Study of Idiopathic Intracranial Hypertension in the All of Us National Data Repository

Topic Headache

Presentation(s) P2 - Poster Session 2 (8:00 AM-9:00 AM)

Poster/Presentation
Number 12-010

Objective Identify potential genetic factors influencing idiopathic intracranial hypertension (IIH) pathogenesis within the All of Us (AoU) database and using the All by All (AxA) tables.

Background Prior research has revealed instances of familial aggregation of IIH, suggesting a genetic influence in disease etiology.

Design/Methods We identified a cohort of individuals ages 18 and older via ICD 9/10 codes for IIH. We excluded subjects with common risk factors for hydrocephalus. We are performing a GWAS to identify potential associated genetic alleles using available genome sequence data and standard methods using the AoU workbench. In tandem, we surveyed AxA for our phenotype of interest to assess cohort demographics and any pertinent genetic findings to compare to our curated cohort. The AxA tables were created by AoU as a large genetic association result database using short-read whole genome sequence (srWGS) and phenotypic data collected from the platform for researchers to access results directly for ~3,400 phenotypes.

Results

Our cohort comprises 597 subjects the majority of whom are White females aged 18-44; the AxA cohort comprises 735 subjects who are also majority females aged 18-44 with European ancestry. We found two alleles with p-values <5e10^-8 of uncertain biological significance through the AxA dataset. Our gene-based analysis identified 11 associations of marginal statistical significance; we are investigating genes with a p-value of <2.5e10^-5.

Conclusions

Our demographic results are consistent with previously described epidemiology in both our cohort and the AxA cohort: premenopausal females of European ancestry who suffer from comorbid obesity. Interpretation of AxA results is underway and expected to be completed by December 2024, along with the GWAS using our curated cohort. Through improving the quality of our IIH cohort by removing confounders, we aim to increase confidence and power in the results, and help elucidate our AxA findings.

Authors/Disclosures
Sofia Zoullas PRESENTER	Ms. Zoullas has nothing to disclose.
Stephen Richards, PhD	Prof. Richards has nothing to disclose.
Anthony J. Griswold, PhD (University of Miami)	Dr. Griswold has received research support from National Institutes of Health.
Liza Smirnoff, MD (University of Miami Health)	The institution of Dr. Smirnoff has received research support from NIH NeuroNext.

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