A large deletion spanning multiple enhancers near PITX2 increases primary open-angle glaucoma risk

2026-03-02 ophthalmology Title + abstract only

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ImportanceGenome-wide association studies have identified hundreds of common single nucleotide polymorphisms (SNPs) and small insertions/deletions (indels) associated with primary open-angle glaucoma (POAG) risk, though these variants have modest effect sizes and individually may have minor contributions to disease development. As whole-genome sequencing data is becoming more readily available, structural variants and other complex genomic features can be interrogated for contribution to disease...

A large deletion spanning multiple enhancers near PITX2 increases primary open-angle glaucoma risk

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