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Abstract #51013 Published in IGR 14-3

The NEIGHBOR Consortium Primary Open-Angle Glaucoma Genome-wide Association Study: Rationale, Study Design, and Clinical Variables

Wiggs JL; Hauser MA; Abdrabou W; Allingham RR; Budenz DL; Delbono E; Friedman DS; Kang JH; Gaasterland D; Gaasterland T; Lee RK; Lichter PR; Loomis S; Liu Y; McCarty C; Medeiros FA; Moroi SE; Olson LM; Realini A; Richards JE; Rozsa FW; Schuman JS; Singh K; Stein JD; Vollrath D; Weinreb RN; Wollstein G; Yaspan BL; Yoneyama S; Zack D; Zhang K; Pericak-Vance M; Pasquale LR; Haines JL
Journal of Glaucoma 2013; 22: 517-525


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.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA.

Full article

Classification:

3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
1.1 Epidemiology (Part of: 1 General aspects)



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