Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Blue Mountains Eye Study-GWAS groupw, NEIGHBORHOOD Consortiumz, Wellcome Trust Case Control Consortium 2 (WTCCC2), Data and Analysis Group, DNA, Genotyping, Data QC and Informatics Group, Publications Committee

Research output: Contribution to journalArticle

48 Citations (Scopus)

Abstract

Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.

Original languageEnglish (US)
Article number4883
JournalNature Communications
Volume5
DOIs
StatePublished - Jan 1 2014

Fingerprint

glaucoma
genome
Genome-Wide Association Study
loci
Glaucoma
Meta-Analysis
Optics
Genes
nerves
optics
Nerve Degeneration
Optic Nerve Diseases
Optic Disk
Blindness
Optic Nerve
blindness
Case-Control Studies
degeneration
Risk analysis
causes

ASJC Scopus subject areas

  • Chemistry(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Physics and Astronomy(all)

Cite this

Blue Mountains Eye Study-GWAS groupw, NEIGHBORHOOD Consortiumz, Wellcome Trust Case Control Consortium 2 (WTCCC2), Data and Analysis Group, DNA, Genotyping, Data QC and Informatics Group, & Publications Committee (2014). Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nature Communications, 5, [4883]. https://doi.org/10.1038/ncomms5883

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. / Blue Mountains Eye Study-GWAS groupw; NEIGHBORHOOD Consortiumz; Wellcome Trust Case Control Consortium 2 (WTCCC2); Data and Analysis Group; DNA, Genotyping, Data QC and Informatics Group; Publications Committee.

In: Nature Communications, Vol. 5, 4883, 01.01.2014.

Research output: Contribution to journalArticle

Blue Mountains Eye Study-GWAS groupw, NEIGHBORHOOD Consortiumz, Wellcome Trust Case Control Consortium 2 (WTCCC2), Data and Analysis Group, DNA, Genotyping, Data QC and Informatics Group & Publications Committee 2014, 'Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process', Nature Communications, vol. 5, 4883. https://doi.org/10.1038/ncomms5883
Blue Mountains Eye Study-GWAS groupw, NEIGHBORHOOD Consortiumz, Wellcome Trust Case Control Consortium 2 (WTCCC2), Data and Analysis Group, DNA, Genotyping, Data QC and Informatics Group, Publications Committee. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nature Communications. 2014 Jan 1;5. 4883. https://doi.org/10.1038/ncomms5883
Blue Mountains Eye Study-GWAS groupw ; NEIGHBORHOOD Consortiumz ; Wellcome Trust Case Control Consortium 2 (WTCCC2) ; Data and Analysis Group ; DNA, Genotyping, Data QC and Informatics Group ; Publications Committee. / Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. In: Nature Communications. 2014 ; Vol. 5.
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