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Study Description

This is a case-control study of primary open angle glaucoma (POAG). POAG is an intraocular pressure (IOP) related progressive optic neuropathy that ultimately leads to blindness. For this study we have formed a collaborative consortium contributing 2170 POAG cases and 2347 controls with a unified definition of POAG (the NEIGHBOR consortium: NEI Glaucoma Human genetic collaBORation). The case definition has also been harmonized with an additional 976 cases and 1140 controls from the NHGRI supported GENEVA (gene-environment) study of glaucoma (GLAUGEN) (NIH/NHGRI U01HG004728, Pasquale PI).

Cases and controls were recruited from ophthalmology clinics and were examined by ophthalmologists. For cases, the clinical exam included intraocular pressure measurements, optic nerve assessment and visual field evaluation. Controls had no family history of glaucoma, normal intraocular pressure and normal optic nerves. Cases and controls were also drawn from two clinical trial populations: Advanced Glaucoma Intervention Study (AGIS, NEI U10EY006827, D. Gaasterland PI) and Collaborative Initial Glaucoma Treatment Study (CIGTS, NEI U10 EY009149, P. Lichter PI).

The NEIGHBOR consortium has two Co-Principal Investigators: J. Wiggs (Harvard, MEEI), and M. Hauser (Duke). The consortium includes eleven different centers where data collection and analysis take place. The eleven sites and investigators are: Harvard Medical School (Massachusetts Eye and Ear Infirmary) (J. Wiggs, L. Pasquale); Duke University Medical Center (M. Hauser, E. Hauser, R. Allingham, S. Schmidt); University of Michigan (J. Richards, S. Moroi, P. Lichter); University of Miami (M. Pericak-Vance, R. Lee, D. Budenz); Vanderbilt University (J. Haines); University of California San Diego (K. Zhang, R. Weinreb; T. Gaasterland); University of Pittsburgh (J. Schuman, G. Wollstein); University of West Virginia (A. Realini, J. Charlton, S. Zareparsi); Johns Hopkins University (D. Friedman, D. Zack); Stanford University (D. Vollrath, K. Singh), Eye Doctors of Washington (D. Gaasterland). Hemin Chin serves as the NEI Staff Collaborator. This national collaborative study is supported by multiple NIH grants: NEI R01 EY015543 (Allingham); NEI U10 EY006827 (D. Gaasterland); NHLBI R01 HL073389 (E. Hauser); NEI R01 EY13315 (M. Hauser); NEI U10 EY009149 (Lichter); NEI R01 EY015473 (Pasquale); NEI U10 EY012118 (Pericak-Vance); NEI R03 EY015682 (Realini); NEI R01 EY011671 (Richards); NEI R01 EY09580 (Richards); NEI R01 EY013178 (Schuman); NEI R01 EY015872 (Wiggs); NEI R01 EY009847 (Wiggs); NEI R01 EY010886 (Wiggs); NEI R01 EY144428 (Zhang); NEI R01 EY144448 (Zhang); NEI R01 EY18660 (Zhang). Funding support for genotyping, which was performed at the Johns Hopkins University Center for Inherited Disease Research, was provided by the National Eye Institute (X01HG005259).

  • Study Design:
    • Case-Control
  • Study Type:
    • Case-Control
  • dbGaP estimated ancestry using GRAF-pop
Authorized Access
Publicly Available Data (Public ftp)
Study Inclusion/Exclusion Criteria

Unrelated individuals were selected as cases or controls for this study. All subjects consented to sharing their samples. Both cases and controls were examined by a trained ophthalmologist. All cases and controls were at least 35 years old and all were Caucasian.

Cases had either reproducible visual field loss in at least one eye in a nerve fiber layer distribution on two independent reliable visual fields, or a vertical cup to disc ratio (CDR) of at least 0.8 in the one eye. For automated visual fields, a reliable visual field was defined by fixation loss ≤ 33%, false positive rate ≤ 20% and false negative rate ≤ 20%. Intraocular pressure was noted for all cases, but was not part of the case definition. Exclusion criteria for cases included: myopia of -8D or greater, clinical findings suggestive of secondary glaucomas (pigment dispersion, exfoliation and anterior segment dysgenesis) and narrow filtration angles.

Controls did not have a family history of glaucoma, had intraocular pressures less than 21 mmHg, had vertical cup to disc ratios of less than 0.7 and CDR asymmetry of less than 0.2. Controls also did not have any evidence of secondary glaucomas or narrow filtration angles.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Illumina Human660W-Quad_v1_A 592839 1048965
Study History

NEIGHBOR was initiated in 2008 with Janey Wiggs and Michael Hauser as co-Principle Investigators. Throughout 2009 individuals were enrolled in the study and clinical data and DNA samples were sent to either the Massachusetts Eye and Ear Infirmary (MEEI) coordinating site directed by Dr. Wiggs or to Dr. Hauser's laboratory at Duke University. Individuals were enrolled at 8 different sites: University of Pittsburgh Medical Center, Johns Hopkins University, West Virginia University, University of Miami, Stanford University, University of California at San Diego, University of Michigan, and Duke University Medical Center. Cases and controls were also included from two NEI supported clinical trial populations, Advanced Glaucoma Intervention Study (AGIS, NEI U10EY006827, D. Gaasterland PI) and Collaborative Initial Glaucoma Treatment Study (CIGTS, NEI U10 EY009149, P. Lichter PI). DNA samples for individuals previously enrolled in these studies were archived at the University of Michigan. Samples from the University of Pittsburgh, Johns Hopkins, West Virginia, University of Miami, Stanford University and the University of California at San Diego were collected at the MEEI coordinating center, while samples from Duke, and the University of Michigan (including the CIGTS and AGIS samples) were collected at the Duke coordinating center. At all sites the same case and control criteria was used. Cases met the affected criteria for primary open angle glaucoma, defined by reliable visual field loss and optic nerve defects. Controls had normal optic nerves and did not have a family history of glaucoma.

The NEIGHBOR study case and control definitions are harmonized with the definitions used for the NHGRI supported GENEVA (gene-environment) study of glaucoma (GLAUGEN) (NIH/NHGRI U01HG004728, Pasquale PI), representing an additional 976 cases and 1140 controls.

The analytical team was lead by Dr. Jonathan Haines (Vanderbilt University Medical Center) and includes Dr. Pericak-Vance (University of Miami) and Dr. Silke Schmidt (Duke University).

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Diseases/Traits Related to Study (MeSH terms)
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