ENTREP2 and Age‑Related Macular Degeneration

This summary evaluates the association between ENTREP2 (HGNC:29075) and age‑related macular degeneration (MONDO_0005150). Two independent genome‑wide association studies conducted in Israeli cohorts identified ENTREP2 among several genes with suggestive association signals. The discovery set included 403 AMD patients and 256 controls (PMID:37732190), and a subsequent validation set comprised an additional 155 cases and 69 controls (PMID:38844476). However, while other loci such as FAM189A1 reached replication thresholds, the statistical signal for ENTREP2 remains modest without evidence of robust segregation or consistent replication across families.

The genetic evidence for ENTREP2 is limited to statistical associations from these GWAS, and no rare variant or direct functional data have been reported for this gene. Currently, there are no reported coding variants in ENTREP2 meeting the HGVS criteria, and functional assessments have not been pursued to clarify its pathogenic mechanism. In summary, while polygenic analyses support a contributory role of ENTREP2 in AMD predisposition, the available evidence is insufficient for a strong clinical assertion. Key take‑home: Additional replication studies and functional validation are necessary before ENTREP2 can be confidently incorporated into AMD diagnostic or prognostic frameworks.

References

• medRxiv • 2023 • Genome-wide association study and genomic risk prediction of age‑related macular degeneration in Israel PMID:37732190
• medRxiv • 2023 • GWAS insights into AMD risk in an Israeli population PMID:38844476

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