Polygenic risk score for predicting diabetic retinopathy in patients with type 2 diabetes: A twenty-year follow-up...

Diabetic retinopathy (DR) is the leading cause of blindness among working-age adults, with an increasing prevalence due to the global burden of diabetes.

To develop a polygenic risk score (PRS) to identify high-risk groups for DR and evaluate its severity in patients with type 2 diabetes (T2D).

This population-based study included 13335 patients with T2D, comprising 7295 patients with DR and 6040 without DR. Genetic data, duration of DR diagnosis, body mass index, systolic blood pressure, diastolic blood pressure, and glycated hemoglobin A1c levels were obtained from the study population. The PRS was constructed from a genome-wide association study conducted in a Taiwanese Han population. Electronic medical records were used to track patients with T2D and analyze the associations between PRS, timing of DR diagnosis, and therapeutic interventions. The hazard ratio (HR) of PRS for DR development and severity was estimated using multivariate Cox proportional hazards regression.

The results demonstrated that patients with T2D in the top PRS decile had a 1.21-fold greater risk of developing DR [HR = 1.21; 95% confidence interval (CI): 1.01-1.45; P = 0.041] over a 20-year follow-up period. Among patients with DR, those in the highest PRS decile exhibited a 4.81-fold increased risk of requiring more than four laser treatments (HR = 4.81; 95%CI: 1.40-16.5; P = 0.012) and a 1.38-fold increased risk of undergoing vitreoretinal surgery (HR = 1.38; 95%CI: 1.01-1.90; P = 0.044).

Patients with T2D with a higher PRS are at increased risk of developing DR and may experience more severe forms of the disease.