ArticleJournal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society2019
Genetic Survey of Adult-Onset Idiopathic Intracranial Hypertension.
Article in Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 22 citations in OpenAlex.
- Inflammatory parameters in idiopathic intracranial hypertension and their relationship with optic disc findings.International ophthalmology · 2026Article
- Article
- Progress and recognition of idiopathic intracranial hypertension: A narrative review.CNS neuroscience & therapeutics · 2024Review
- A genetic survey of patients with familial idiopathic intracranial hypertension residing in a Middle Eastern village: genetic association study.European journal of medical research · 2024Article
- Review
- Idiopathic intracranial hypertension in two twin sisters.BMJ case reports · 2024Article
- Intracranial compliance in type 2 diabetes mellitus and its relationship with the cardiovascular autonomic nervous control.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2022Article
- Neutrophil-to-lymphocyte and platelet-to-lymphocyte ratios as inflammation markers in patients with papilledema due to idiopathic intracranial hypertension.Indian journal of ophthalmology · 2021Article
- Idiopathic Intracranial Hypertension in the United States: Demographic and Socioeconomic Disparities.Frontiers in neurology · 2020Article
- Safety and Clinical Outcomes after Transverse Venous Sinus Stenting for Treatment of Refractory Idiopathic Intracranial Hypertension: Single Center Experience.Journal of vascular and interventional neurology · 2020Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
backgroundIdiopathic intracranial hypertension (IIH) is a condition characterized by increased intracranial pressure of unknown cause. IIH has been shown to be associated with female sex as well as obesity. This genome-wide association study was performed to determine whether genetic variants are associated with this condition.
methodsWe analyzed the chromosomal DNA of 95 patients with IIH enrolled in the Idiopathic Intracranial Hypertension Treatment Trial and 95 controls matched on sex, body mass index, and self-reported ethnicity. The samples were genotyped using Illumina Infinium HumanCoreExome v1-0 array and analyzed using a generalized linear mixed model that accounted for population stratification using multidimensional scaling.
resultsA total of 301,908 single nucleotide polymorphisms (SNPs) were evaluated. The strongest associations observed were for rs2234671 on chromosome 2 (P = 4.93 × 10), rs79642714 on chromosome 6 (P = 2.12 × 10), and rs200288366 on chromosome 12 (P = 6.23 × 10). In addition, 3 candidate regions marked by multiple associated SNPs were identified on chromosome 5, 13, and 14.
conclusionsThis is the first study to investigate the genetics of IIH in a rigorously characterized cohort. The study was limited by its modest size and thus would have only been able to demonstrate highly significant association on a genome-wide scale for relatively common alleles exerting large effects. However, several variants and loci were identified that might be strong candidates for follow-up studies in other well-phenotyped cohorts.
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