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The NEIGHBOR Consortium Primary Open-Angle Glaucoma Genome-wide Association Study: Rationale, Study Design, and Clinical Variables JOURNAL OF GLAUCOMA 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., Richards, J. E., Rozsa, F. W., Schuman, J. S., Singh, K., Stein, J. D., Vollrath, D., Weinreb, R. N., Wollstein, G., Yaspan, B. L., Yoneyama, S., Zack, D., Zhang, K., Pericak-Vance, M., Pasquale, L. R., Haines, J. L. 2013; 22 (7): 517-525

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.

View details for DOI 10.1097/IJG.0b013e31824d4fd8

View details for Web of Science ID 000324388300003

View details for PubMedID 22828004