Diabetic retinopathy (DR) and chronic kidney disease (CKD) remain major causes of disability in individuals with type 1 diabetes mellitus (T1DM). A genetic association study published in Biomedicines evaluated whether previously identified polymorphic variants were associated with T1DM and its microvascular complications.

The study included 618 participants, including 522 individuals with T1DM and 96 control participants without diabetes. Among patients with T1DM, 232 had both CKD and DR, while 80 had no microvascular complications. Investigators analyzed allele and genotype frequencies of 17 single-nucleotide polymorphisms (SNPs) associated with diabetes and vascular complications.

Findings

• The rs2292239 variant in ERBB3 was associated with increased risk of T1DM (PBonf = 0.001; odds ratio [OR] 2.02).
• The rs55703767 variant in COL4A3 was associated with lower overall T1DM risk (P = 0.018; OR 0.42).
• The rs9344715 variant in AKIRIN2 was associated with diabetic nephropathy risk (P = 0.040; OR 1.29).
• Two PDILT variants, rs77924615 (OR 0.57; PBonf = 0.045) and rs11864909 (OR 0.41; PBonf = 0.011), were associated with DR susceptibility.
• The identified variants remained independently associated with T1DM complications after genetic analyses.

Several genetic variants showed associations with T1DM and its microvascular complications, including DR and CKD. The findings support further validation of these variants as potential biomarkers for complication risk stratification and personalized prevention strategies in T1DM.