Dataset Information
Association of Genetic Variation With Keratoconus.
Ontology highlight
ABSTRACT: Importance
Keratoconus is a condition in which the cornea progressively thins and protrudes in a conical shape, severely affecting refraction and vision. It is a major indication for corneal transplant. To discover new genetic loci associated with keratoconus and better understand the causative mechanism of this disease, we performed a genome-wide association study on patients with keratoconus.Objective
To identify genetic susceptibility regions for keratoconus in the human genome.Design, setting, and participants
This study was conducted with data from eye clinics in Australia, the United States, and Northern Ireland. The discovery cohort of individuals with keratoconus and control participants from Australia was genotyped using the Illumina HumanCoreExome single-nucleotide polymorphism array. After quality control and data cleaning, genotypes were imputed against the 1000 Genomes Project reference panel (phase III; version 5), and association analyses were completed using PLINK version 1.90. Single-nucleotide polymorphisms with P?Main outcomes and measuresAssociations between keratoconus and 6?252?612 genetic variants were estimated using logistic regression after adjusting for ancestry using the first 3 principal components.Results
The discovery cohort included 522 affected individuals and 655 control participants, while the replication cohorts included 818 affected individuals (222 from the United States, 331 from Australia and Northern Ireland, and 265 from Victoria, Australia) and 3858 control participants (2927 from the United States, 229 from Australia and Northern Ireland, and 702 from Victoria, Australia). Two novel loci reached genome-wide significance (defined as P?Conclusions and relevanceIn this relatively large keratoconus genome-wide association study, we identified a genome-wide significant locus for keratoconus in the region of PNPLA2 on chromosome 11.
SUBMITTER: McComish BJ
PROVIDER: S-EPMC6990728 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Publications
Association of Genetic Variation With Keratoconus.
JAMA ophthalmology 20200201 2
<h4>Importance</h4>Keratoconus is a condition in which the cornea progressively thins and protrudes in a conical shape, severely affecting refraction and vision. It is a major indication for corneal transplant. To discover new genetic loci associated with keratoconus and better understand the causative mechanism of this disease, we performed a genome-wide association study on patients with keratoconus.<h4>Objective</h4>To identify genetic susceptibility regions for keratoconus in the human genom ...[more]