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. Author manuscript; available in PMC: 2024 Jul 1.
Published in final edited form as: Ophthalmology. 2023 Feb 20;130(7):756–763. doi: 10.1016/j.ophtha.2023.02.018

Figure 2. Correlation of single nucleotide polymorphism (SNP) effect sizes with TXNRD2 and ME3 gene expression levels.

Figure 2.

All primary open-angle glaucoma (POAG) associated SNPs in the TXNRD2 and ME3 genetic loci that are expression quantitative trait loci (eQTLs) were identified. For each eQTL, the SNP effect size and expression levels of the corresponding gene were queried in the Gene-Tissue Expression (GTEx) database. Given that the GTEx database does not currently include data from ocular tissues, we selected tibial nerve tissue as a surrogate since this is a neuronal tissue and POAG is also a neurodegenerative disorder. In tibial nerve tissue, a larger SNP risk effect size strongly correlated with higher expression levels of TXNRD2 (r=0.95, n=5, p=0.02) and lower expression levels of ME3 (r= −0.97, n=8, p<0.001). As seen in Figure 1A, these changes could lead to lower levels of NADPH in the mitochondria. Both the TXNRD2 and ME3 findings were replicated in additional tissues in the GTEx database (Supplementary Figure 1).