The NEIGHBOR Consortium Primary Open-Angle glaucoma genome-wide association study: Rationale, study design, and clinical variables

Janey L. Wiggs, Michael A. Hauser, Wael Abdrabou, Robert Rand Allingham, Donald L. Budenz, Elizabeth Delbono, David S. Friedman, Jae H. Kang, Douglas Gaasterland, Terry Gaasterland, Richard K. Lee, Paul R. Lichter, Stephanie Loomis, Yutao Liu, Cathy Mccarty, Felipe A. Medeiros, Sayoko E. Moroi, Lana M. Olson, Anthony Realini, Julia E. RichardsFrank W. Rozsa, Joel S. Schuman, Kuldev Singh, Joshua D. Stein, Douglas Vollrath, Robert N. Weinreb, Gadi Wollstein, Brian L. Yaspan, Sachiko Yoneyama, Don Zack, Kang Zhang, Margaret Pericak-Vance, Louis R. Pasquale, Jonathan L. Haines

Research output: Contribution to journalArticle

37 Scopus citations

Abstract

Primary open-angle glaucoma (POAG) is a common disease with complex inheritance. The identification of genes predisposing to POAG is an important step toward the development of novel gene-based methods of diagnosis and treatment. Genome-wide association studies (GWAS) have successfully identified genes contributing to complex traits such as POAG however, such studies frequently require very large sample sizes, and thus, collaborations and consortia have been of critical importance for the GWAS approach. In this report we describe the formation of the NEIGHBOR consortium, the harmonized case control definitions used for a POAG GWAS, the clinical features of the cases and controls, and the rationale for the GWAS study design.

Original languageEnglish (US)
Pages (from-to)517-525
Number of pages9
JournalJournal of Glaucoma
Volume22
Issue number7
DOIs
StatePublished - Sep 2013

Keywords

  • Genetics
  • Genome-wide association study
  • Primary open-angle glaucoma

ASJC Scopus subject areas

  • Ophthalmology

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    Wiggs, J. L., Hauser, M. A., Abdrabou, W., Allingham, R. R., Budenz, D. L., Delbono, E., Friedman, D. S., Kang, J. H., Gaasterland, D., Gaasterland, T., Lee, R. K., Lichter, P. R., Loomis, S., Liu, Y., Mccarty, C., Medeiros, F. A., Moroi, S. E., Olson, L. M., Realini, A., ... Haines, J. L. (2013). The NEIGHBOR Consortium Primary Open-Angle glaucoma genome-wide association study: Rationale, study design, and clinical variables. Journal of Glaucoma, 22(7), 517-525. https://doi.org/10.1097/IJG.0b013e31824d4fd8