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CEP162 (HGNC:21107) has emerged as a candidate gene for diabetic retinopathy (MONDO_0005266) based on replicated associations from case‑control studies. The evidence originates from large multi‑patient studies that have evaluated the contribution of common genetic variants to risk of diabetic retinopathy in type‑2 diabetes populations.
In one study involving 407 Emirati patients with type‑2 diabetes, the intronic SNP rs9362054, located near CEP162, was significantly associated with diabetic retinopathy (PMID:31130920). In a separate three‑stage genome‑wide association study conducted in a Japanese population that included 837 cases and 1,149 controls, similar association signals were observed, thereby lending additional support to the link between CEP162 and diabetic retinopathy (PMID:25364816).
These findings indicate that the association of CEP162 with diabetic retinopathy does not follow a classical Mendelian pattern; rather, it suggests a complex trait architecture where multiple genetic and environmental factors are at play. Formal segregation analysis could not be performed in these studies, and thus data on affected familial transmission is limited.
At the genetic level, the evidence centers on statistically significant associations across independent cohorts. Although a valid HGVS‐coded variant was not reported in the literature, the repeated observation of the rs9362054 signal near CEP162 supports its relevance as a risk locus. This reinforces the impact of common variants in modulating disease susceptibility.
On the functional side, while direct experimental assays are currently sparse, evidence indicates that CEP162 plays a critical role in ciliary transition zone formation. Given that proper ciliary function is essential to retinal neural processing, disruption of CEP162 may contribute to the pathogenesis of diabetic retinopathy. The biological plausibility of this mechanism further adds weight to the genetic associations observed.
In conclusion, the integrated genetic and preliminary functional data provide a moderately strong rationale for the association between CEP162 and diabetic retinopathy. This evidence, derived from independent and ethnically diverse cohorts, supports the clinical potential for incorporating CEP162 into diagnostic risk‑assessment strategies for diabetic retinopathy.
Key take‑home: CEP162 is a promising marker for diabetic retinopathy that merits further investigation to refine its role in diagnostic decision‑making and potential therapeutic targeting.
Gene–Disease AssociationModerateAssociation signals were replicated in independent cohorts (407 patients in an Emirati study and 837 cases in a Japanese study) with statistically significant findings (PMID:31130920, PMID:25364816). Genetic EvidenceModerateRobust statistical associations for the intronic SNP rs9362054 near CEP162 were observed in case‑control studies, suggesting a significant contribution to disease risk despite the absence of classical segregation data. Functional EvidenceLimitedAlthough direct experimental validation is lacking, the known role of CEP162 in ciliogenesis offers a plausible mechanistic link to retinal dysfunction in diabetic retinopathy. |