Examination of Idiopathic Intracranial Hypertension in the All of Us National Data Repository: A Prospective Genetic Investigation
Sofia Zoullas1, Anthony J. Griswold2, Liza Smirnoff3
1University of Miami Miller School of Medicine, 2John P. Hussman Institute for Human Genomics, 3University of Miami Department of Neurology
Objective:
Identify a cohort of subjects with idiopathic intracranial hypertension (IIH) within the All of Us (AoU) database in order to conduct a genome-wide association study (GWAS).
Background:
Prior research has revealed instances of familial aggregation of IIH, suggesting genetic influence in disease etiology.
Design/Methods:
We will use the AoU data to describe the demographics of patients with IIH as well as to identify potential genetic drivers of IIH, including those implicated in previous smaller scale studies. The AoU biorepository was queried for individuals aged 18 and older with ICD 9/10 codes for IIH. Subjects were excluded from the study if their medical history included common risk factors for hydrocephalus. Descriptive statistics were performed in the AoU researcher workbench platform. Next, we will access available genome sequencing data and use standard tools to perform data quality control, ancestry estimation, and GWAS.
Results:
Preliminary results include descriptive statistics of our population. The study includes 747 subjects: 90% identify as female, 8% as male. 49% are between the ages of 18-44, 40% between 45-65, and 11% above 65. 44% identified as White, 31% as Black/African American, and 21% as Hispanic/Latino. Moreover, 64% of our population has comorbid obesity and 59% essential hypertension.
Conclusions:
Our preliminary results provide a prevalence of IIH across a broad spectrum of human identities that have not previously been evaluated. Demographics were consistent with previously described epidemiology: premenopausal, white females who suffer from comorbid obesity and essential hypertension. The GWAS component of our study may help to elucidate further genetic predisposition for IIH. With high disease prevalence in females with BMI ≥30, we expect to find associations with genes involved in hormonal and metabolic function.