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ASB10 – Glaucoma

Evidence for the association between ASB10 and glaucoma is mixed. Initial case reports, including findings from a large Oregon family and a report of a homozygous mutation in a Pakistani individual (1 proband [PMID:27296073]), suggested that ASB10 variants might contribute to glaucoma through dysregulation of ubiquitin-mediated protein degradation pathways. These studies raised the possibility that ASB10 dysfunction could affect protein turnover in ocular tissues, thereby contributing to disease pathogenesis.

However, subsequent multi‐patient studies have cast doubt on this association. An investigation of 158 primary open-angle glaucoma patients from Iowa ([PMID:22798626]) and a separate analysis in a Korean cohort of 263 participants ([PMID:31522561]) did not find a statistically significant correlation between ASB10 variants and glaucoma risk. In addition, case‑control comparisons of several ASB10 single nucleotide polymorphisms failed to detect genotype distribution differences, suggesting that while ASB10 may play a role in cellular protein degradation, its variants do not robustly segregate with glaucoma in diverse populations.

The genetic data remain conflicting, with limited segregation evidence observed in familial cases juxtaposed against negative results in larger cohorts. Functional studies do support a role for ASB10 in pathways relevant to glaucoma pathogenesis, yet the lack of consistent genetic association limits its current diagnostic utility.

Key Take‑home sentence: Although ASB10 is mechanistically implicated in protein degradation pathways relevant to glaucoma, the clinical association remains disputed, necessitating further investigation for diagnostic and therapeutic exploitation.

References

  • Experimental eye research • 2017 • Working your SOCS off: The role of ASB10 and protein degradation pathways in glaucoma PMID:27296073
  • Current eye research • 2020 • Lack of Correlation between ASB10 and Normal-tension Glaucoma in a Population from the Republic of Korea PMID:31522561
  • Human molecular genetics • 2012 • Analysis of ASB10 variants in open angle glaucoma PMID:22798626

Evidence Based Scoring (AI generated)

Gene–Disease Association

Disputed

Although familial cases, including a homozygous mutation in a Pakistani individual [PMID:27296073], provided initial support, subsequent larger-scale studies in US ([PMID:22798626]) and Korean ([PMID:31522561]) cohorts failed to replicate the association.

Genetic Evidence

Limited

Isolated familial reports suggest potential segregation, yet comprehensive case‑control analyses do not confirm a robust genetic association between ASB10 variants and glaucoma.

Functional Evidence

Moderate

Experimental studies demonstrate that ASB10’s role in ubiquitin-mediated protein degradation could influence ocular cellular homeostasis; however, its direct clinical impact on glaucoma remains unproven.