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ASB10 – Open‑Angle Glaucoma

Two independent studies have investigated the association between ASB10 (HGNC:17185) and open‑angle glaucoma (MONDO_0005338). One study, which evaluated 158 primary open‑angle glaucoma (POAG) cases versus 82 controls, identified 11 nonsynonymous coding sequence variants but did not detect a statistically significant association (PMID:22798626). In contrast, a separate investigation of a Pakistani cohort, comprising 30 multiplex POAG probands, 208 sporadic cases, and 151 controls, reported a significant cumulative burden of rare nonsynonymous variants, including the recurrent allele c.870G>T (p.Ala290Ala), that was associated with increased disease risk (PMID:26713451).

The conflicting genetic evidence—in which one study failed to show association while another demonstrated a statistically significant link—complicates clinical interpretation. Overall, the genetic data provide only limited support for ASB10’s contribution to open‑angle glaucoma, and no functional or experimental studies specific to glaucoma have been reported. Further investigation is required to clarify the role of ASB10 variants in the pathogenesis of glaucoma.

Key Take‑home: While preliminary genetic data suggest ASB10 variants may contribute to open‑angle glaucoma risk, the current evidence is conflicting and should be integrated cautiously into diagnostic decision‑making.

References

  • Human Molecular Genetics • 2012 • Analysis of ASB10 variants in open angle glaucoma PMID:22798626
  • PloS One • 2015 • Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma PMID:26713451

Evidence Based Scoring (AI generated)

Gene–Disease Association

Disputed

One study of 158 cases failed to detect a significant association (PMID:22798626), while a separate study in 30 familial and 208 sporadic cases reported a significant cumulative burden of rare variants (PMID:26713451), resulting in conflicting evidence.

Genetic Evidence

Limited

Limited familial segregation data and inconsistent case‑control findings—including recurrent variant c.870G>T (p.Ala290Ala) observed in sporadic cases—support only a tentative genetic contribution.

Functional Evidence

None

No functional studies specific to open‑angle glaucoma have been provided to elucidate the pathogenic mechanism of ASB10 variants.