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The following is a summary of “Association of KCNJ11 E23K/rs5219 Gene Polymorphism with Type 2 Diabetes and Diabetes-Related Cardiovascular Disease,” published in the February 2025 issue of Diabetes, Metabolic Syndrome and Obesity by Buraczynska et al.
Researchers conducted a retrospective study to analyze the association between KCNJ11 E23K gene polymorphism, type 2 diabetes (T2DM), and diabetes-related cardiovascular disease (CVD).
They examined the KCNJ11 E23K (rs5219) single nucleotide polymorphism by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 780 individuals with T2DM and 425 healthy controls. The genotype distribution was compared between individuals with CVD (524) and those without CVD (256).
The results showed that the T allele and TT genotype were linked to a higher risk of T2DM (odds ratio [OR] 1.26, P = 0.008 and OR 1.55, P = 0.0019, respectively). In the T2DM group, the T allele frequency was greater in individuals with CVD than those without CVD (49% vs 28%, P = 0.0001). The TT genotype was found in 20% of those with CVD compared to 8.5% without CVD. The T allele was significantly associated with CVD across all genetic models (OR 2.44, P < 0.0001), indicating 2.5-fold higher odds of CVD. The TT genotype showed an almost 6-fold increased risk of CVD (OR 5.61, P < 0.0001). Multiple logistic regression confirmed KCNJ11 E23K polymorphism as a significant predictor of CVD (P < 0.0001).
Investigators concluded that the KCNJ11 E23K polymorphism, associated with T2DM, and increased CVD risk, suggesting its potential as a predictive marker.
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