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. 2018 Nov 8;137(2):129–137. doi: 10.1001/jamaophthalmol.2018.5313

Table 2. Pathway-Specific Genetic Polymorphisms for Allelic Risk Scores.

Allelic Variant by Pathway Gene Chromosome Variation Type Direction of Model Coefficient
Endothelial function pathway
rs12944039 NOS2A 17 A/G Intron +
rs2072324 NOS2A 17 A/C Intron +
rs2255929 NOS2A 17 A/T Intron +
rs1137933 NOS2A 17 C/T Coding sequence nonsynonymous
Metal-processing pathway
rs224572 SLC11A2 12 A/G Intron
rs422982 SLC11A2 12 A/T Intron +
rs12227734 SLC11A2 12 A/G Intron
rs1005559 SLC11A2 12 A/T Intron
rs1799945 HFE 6 C/G Exon
Oxidative stress pathway
rs1001179 CAT 11 A/G Promoter +
rs480575 CAT 11 C/T Intron
rs2071746 HMOX1 22 A/T Promoter +
rs5995098 HMOX1 22 C/G Intron +
rs1800566 NQO1 16 C/T Coding sequence nonsynonymous +
rs2282679 GC 4 A/C Intron
rs3170633 GCLM 1 A/G 3′ End

Abbreviations: +, positive; −, negative.