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- W1989086502 abstract "We sincerely thank Rao et al. (1) for their remarks about our recently published article (2). Rao et al. (1) attempted to replicate our results of primary open-angle glaucoma (POAG)-associated SNPs identified in Japanese (2) by using an Indian population. This is an important trial, because it was conducted in order to see whether POAG shared the same variants across different ethnic backgrounds. It is also quite important to properly assess the data from multiple sites in order to gain statistical power and identify latent variants associated with complex traits, especially when no major risk gene or locus was observed in the initial genome-wide association study (GWAS). Unlike the SNPs on the genes strongly associated with age-related macular degeneration (AMD) (3), we could not identify such SNPs in POAG that reached the genome-wide significant threshold (2). This is probably due to the fact that glaucoma seems to have more heterogeneous phenotypes than AMD and multiple gene–gene and gene–environment interactions, each with a small effect, thereby possibly playing critical roles in the onset of the disease. Therefore, we concluded that the discovered SNPs were “modestly” associated and would provide a foundation on which to build (2)." @default.
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- W1989086502 date "2009-10-21" @default.
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- W1989086502 title "Reply to Rao et al.: Appropriate study design for genome-wide association study replication to identify variants modestly associated with complex traits" @default.
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- W1989086502 doi "https://doi.org/10.1073/pnas.0911264106" @default.
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