Abstract: Objective To study whether there was a familial aggregation of diabetic retinopathy (DR) among Chinese type 2 diabetes mellitus (T2DM) patients. Design cross-sectional study. Participants All DM siblings of the family were as the research objects if there were at least two diabetic siblings in the lineal and consanguineous family. Methods The research objects were divided into several independent siblings according to the familial aggregation analysis method of genetic epidemiology. The siblings were divided into two groups according to its proband with retinopathy or not, and the prevalence of DR among siblings was calculated. odds ratio (OR) was also calculated. Main Outcome Measures Prevalence and OR value. Results A total of 103 families (229 cases) were enrolled in the study. Prevalence of DR among siblings of probands with DR was 58.3% , while the prevalence of DR among siblings of probands without DR was 26.7% (P=0.002, OR=3.411). The difference between siblings of probands with NPDR and PDR didn’t reach statistical significance (P=0.812). Multivariate Logistic regression analysis revealed that long duration of diabetes (P＝0.002, OR=1.143) and proband with DR (P=0.042, OR=2.811) were associated with an increased risk of DR in siblings, while male was associated with an decreased risk of DR in siblings (P=0.037, OR=0.389). Conclusion A familial aggregation of DR can be found in Chinese T2DM patients, however, a familial aggregation of PDR is worth further study.

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