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The association between C7orf50 and age‑related macular degeneration (AMD) is currently supported by limited genetic evidence. A genome‑wide association study in an Israeli cohort (403 AMD patients and 256 controls, PMID:37732190) identified C7orf50 among four genes reaching a suggestive association threshold (p < 5 x 10^-5). However, in an independent replication cohort the association for C7orf50 was not confirmed (PMID:38844476), and no segregation data or case reports were available to further substantiate this association.
There is no functional data available to elucidate a pathogenic mechanism for C7orf50 in AMD, limiting the confidence in clinical diagnostic utility at this time. Overall, while the discovery provides an interesting avenue for further research, additional studies are necessary to establish a definitive role of C7orf50 in the etiology of AMD. Key take‑home: Current evidence suggests that clinicians should interpret C7orf50 associations with caution until more robust genetic and functional data are available.
Gene–Disease AssociationLimitedThe discovery GWAS reported a suggestive association for C7orf50 in a cohort of 403 cases (PMID:37732190), but the association was not replicated in an independent cohort (PMID:38844476). Genetic EvidenceLimitedEvidence is solely derived from GWAS data with a p-value < 5 x 10^-5 without additional segregation or case‐report support. Functional EvidenceLimitedNo functional studies or experimental data have been provided to support a mechanistic link between C7orf50 and AMD. |