Table 2 Summary of ocular cell types enriched for e/sQTL-mapped genes in POAG and/or IOP GWAS loci

From: Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma

Tissue

POAG-specific

IOP-specific

POAG and IOP

Anterior segment

-

Pericytes

Schlemm’s Canal endothelium*

Ciliary muscle fibroblasts

Trabecular meshwork fibroblasts

Iris fibroblasts

Lens epithelium

Vascular endothelium

Lymphatic endothelium

Retina

Astrocytes

Müller Glia

–

–

Optic nerve head & surrounding posterior tissues

Oligodendrocytes (ON, ONH)

Oligodendrocyte precursor cells (ON, ONH)

Astrocytes (ONH, ON, PPS)

Vascular endothelium (choroid, ONH, PPS, sclera)

Vascular smooth muscle cells (PPS, sclera)

Pericytes (ONH, choroid, PPS)

Fibroblasts (choroid, ONH, PPS, sclera)

Nonmyelinating Schwann cells (choroid, PPS)

  1. This table lists ocular cell types significantly enriched for cell type-specific expression of genes mapped to POAG and/or IOP GWAS loci based on e/sQTLs, according to ECLIPSER analysis of all or unique POAG and IOP loci at tissue-wide Benjamini-Hochberg FDR < 0.1 (Supplementary Data 35 and 38). *Nominal enrichment (P < 0.05). POAG results are summarized from the POAG cross-ancestry and European GWAS meta-analyses. The posterior tissues in which the enriched cell types are most abundant are listed in parentheses. ONH optic nerve head, ON optic nerve, PPS peripapillary sclera.
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