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. 2022 Jun 23;16:2093–2103. doi: 10.2147/OPTH.S364739

Table 1.

Glaucoma Biomarker Gene Catalogue

Biomarker Gene Literature Reference Change in Expression (↑↓)/Seq. Variant (*)/Autoantibody Target (#) Cell/Tissue Type
ABC1 Golubnitschaja & Flammer 200770 Blood, aqueous humor
AIF Tezel et al, 201240 ↑, # Retina
ANP Nath et al, 201771 Leukocytes
ANX1 Tezel et al, 201240 # Serum
AP2TF Golubnitschaja & Flammer, 200770 Leukocytes
ATOH7 Bhattacharya et al, 201372 * Review
BDNF Ghaffariyeh et al, 201173 Serum
BIRC6 Tezel et al, 201240 # Serum
CALD1 Beutgen et al, 201933 Serum
CAT Nath et al, 201771 Plasma
CAV1 Bhattacharya et al, 201372 * Review
CAV2 Bhattacharya et al, 201372 * Review
CBP Tezel et al, 201240 ↑, # Serum
CD23 Golubnitschaja & Flammer, 200770 Leukocytes
CDKN2BAS Bhattacharya et al, 201372 * Blood
CDR1 Schmelter et al, 201774 * Blood
CDR2 Schmelter et al, 201774 * Blood
CDR3 Schmelter et al, 201774 * Blood
CYP46A1 Fourgeux et al, 200975 * Blood
DHC1 Tezel et al, 201240 # Serum
EFNA1 Tezel et al, 201240 ↑,# Serum
ENO1 Beutgen et al, 201933 # Serum
EPO Sun et al, 202076 Aqueous humor
ET1 Nath et al, 201771 Plasma
GAS7 Bhattacharya et al, 201372 * Review
GPX Nath et al, 201771 Aqueous humor, Serum
HSPA1B Beutgen et al, 201933 # Serum
HSPD1 Beutgen et al, 201933 # Serum
HTT Tezel et al, 201240 # Serum
IL2 Nath et al, 201771 Blood
ITK Golubnitschaja & Flammer, 200770 Leukocytes
LOX1 Bhattacharya et al, 201372 * Review
MDA Nath et al, 201771 Plasma
MMP9 Golubnitschaja & Flammer, 200770 Leukocytes
MT1MMP Golubnitschaja & Flammer, 200770 Leukocytes
NCAM1 Tezel et al, 201240 # Serum
NFRKB Tezel et al, 201240 # Serum
NLRP2 Tezel et al, 201240 # Serum
P53 Golubnitschaja & Flammer, 200770 Leukocytes
PGAM1 Beutgen et al, 201933 ↑, # Serum
SIX1 Bhattacharya et al, 201372 * Review
SOD Nath et al, 201771 Aqueous humor, Serum
TAC Nath et al, 201771 Serum
TIGR Golubnitschaja & Flammer, 200770 Leukocytes
TMCO1 Bhattacharya et al, 201372 * n/a
VDAC2 Beutgen et al, 201933 # Serum
VEGFA Sun et al, 202076 Aqueous humor
VIM Beutgen et al, 201933 # Serum
XAPC7 Golubnitschaja & Flammer, 200770 Leukocytes
XPGC Golubnitschaja & Flammer, 200770 Leukocytes

Notes: Two reviews and 9 original research articles were used to identify potential glaucoma biomarkers. Column two indicates the reference for each gene identified in a study of human glaucoma patients. Column three indicates additional information from the study as follows: upregulated with glaucoma (↑), downregulated with glaucoma (↓), presence of a sequence variant (*), targeted by autoantibodies (#). Column four indicates the type of sample collected for each study or if the reference was from a review article. Please note that the majority of these samples were not collected from eye tissue.