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Chunk #12 — Results — GWAS results

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Genome-wide association study of primary open angle glaucoma risk and quantitative traits.
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There were two SNPs with GWAS significance (p<1×10−8) in the risk analysis, the most significant was on chromosome 6 (rs11961171, p=8.55±10−13) and had 6 SNPs (rs41463745, rs4713332, rs16871186, rs16871188, rs4713335, and rs16871204) in the clump (p≤0.0002) and four other independent SNPs in the surrounding region (Figure 1). The genes nearest to the signal are neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), LOC100129322, and transmembrane protein 170B (TMEM170B). We chose three independent SNPs to genotype in this region in the replication sample. The second GWAS significant SNP was on chromosome 16 (rs924463) with no supporting evidence from the surrounding region suggesting a likely false positive. Figure 2 shows a Manhattan plot of the risk GWAS.