Table 3.
Summary of Findings
| Gene | SNP in this report | Phenotype | Relationship(s) to previously reported SNPs for POAG |
|---|---|---|---|
| TGFBR3 | rs11466588 | POAG | No LD with prior rs2810903. |
| TMCO1 | rs10529326 | POAG | In LD with prior rs4656461 and prior rs7518099.9 |
| MYOC | rs12129856 | POAG | No association observed with previously published SNPs. SNP is located in adjacent gene, PRRC2C. (Fig. 4) |
| CYP1B1 | rs2432663 | POAG | rs2432663 is located between CYP1B1 and CYP1B1-AS1. |
| FNDC3B | rs199612704 | POAG | No LD with prior rs12897; separated by region of high recombination (Fig. 3A&B). |
| AFAP1 | rs4328916 | POAG | No LD with prior rs4619890.24 |
| 8q22 | rs7009228 | POAG | No LD with previously reported rs1521444, rs284489, or rs284495.14 Closer to LRP12 gene. |
| 9p21 | rs2383204, rs79721419 |
POAG | Two independent signals identified. Signal #1 at rs2383204 is in linkage disequilibrium with previously published SNPS rs1063192 42 and rs4977756.9 Signal #2 at rs79721419 is approximately 150kb away from #1 and separated by a region of high recombination (Fig. 2) |
| ENO4 | rs185815146 | Advanced POAG |
Putative novel locus for AD POAG |
| ABO | rs551169 | POAG | No LD with prior rs8176743; located in ABO promoter.39 |
| PMM2 | rs13332985 | Advanced POAG |
No LD with prior rs3785176 or rs8057024.11 |
| GAS7 | rs8080535 | Advanced POAG |
No LD with prior rs12150284; separated by region of high recombination (Fig. 3C&D).54 |
Note: Linkage disequilibrium (LD) between SNPs was assessed using the “AMR” subset of the 1kGP data. This set will contain genomic segments from African, Amerindian, European ancestry. “Prior” indicates SNPs reported to be genome-wide significant in a genome-wide association study.