Genetic Survey of Adult-Onset Idiopathic Intracranial Hypertension

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Title Genetic Survey of Adult-Onset Idiopathic Intracranial Hypertension
Creator Markus H. Kuehn; Rajashree Mishra; Benjamin E. Deonovic; Kimberly N. Miller; Shana E. McCormack; Grant T. Liu; Mark J. Kupersmith; Michael Wall; NORDIC IIHTT Study Group
Affiliation Department of Ophthalmology and Visual Sciences (MHK, KNM, MW), The University of Iowa, Iowa City, Iowa; Division of Human Genetics (RM), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Biostatistics (BED), The University of Iowa, Iowa City, Iowa; Division of Endocrinology and Diabetes (SEM), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics (SEM), Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; Division of Ophthalmology (GTL), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; and New York Eye and Ear Infirmary (MJK), Icahn School of Medicine at Mount Sinai, New York, New York
Abstract Background: Idiopathic 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. Methods: We 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. Results: A 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. Conclusions: This 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.
Subject Adolescent; Adult; DNA / genetics; Female; Follow-Up Studies; Genetic Testing / methods; Genome-Wide Association Study / methods; Genotype; Humans; Intracranial Hypertension / diagnosis; Intracranial Hypertension / genetics; Intracranial Pressure / physiology; Male; Middle Aged; Phenotype; Polymorphism, Single Nucleotide; Severity of Illness Index; Young Adult
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Date 2019-03
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, March 2019, Volume 39, Issue 1
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s6w14wdk
Setname ehsl_novel_jno
ID 1595782
Reference URL https://collections.lib.utah.edu/ark:/87278/s6w14wdk
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