To examine the relationship between the KCNJ11 E23K variant and the severity of diabetic retinopathy (DR) in a Lebanese cohort with type 2 diabetes (T2DM).
Approach:
Study Design: A case-control study involving 1,415 adults with T2DM classified into diabetes without retinopathy (DWR), non-proliferative DR (NPDR), and proliferative DR (PDR), compared to 1,389 normoglycemic controls.
Genetic Analysis: Logistic regression assessed genetic associations across multiple inheritance models, with sensitivity analyses stratified by diabetes duration.
Key Findings:
The K allele of the E23K variant was more frequent in T2DM patients compared to controls.
E23K was not associated with overall DR but showed stage-specific effects, increasing PDR odds with each additional K allele.
K/K homozygosity indicated a stronger recessive effect, particularly in patients with HbA1c ≤ 7.0%.
Risk associations were more pronounced in individuals with diabetes duration ≥10 years.
Adding genotype information slightly improved model discrimination but overall performance remained poor.
Interpretation:
KCNJ11 E23K is associated with advanced stages of diabetic retinopathy, particularly PDR.
Limitations:
The study's cross-sectional design limits causal inferences.
The overall discriminatory performance of E23K genotyping was poor.
Conclusion:
KCNJ11 E23K may serve as a marker for advanced retinopathy severity in the Lebanese population.
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