Association of the KCNJ11 E23K (rs5219) variant with proliferative diabetic retinopathy in Lebanese patients with type 2 diabetes

Frontiers in Medicine, 2026

Полный текст Открытый доступ: Gold Метаданные (CSL-JSON)
DOI 10.3389/fmed.2026.1874270
Достоверность данных 70 средняя
Как считается эта оценка

Складывается из проверяемых признаков самой записи: есть ли у статьи DOI, сколько независимых источников подтвердили её данные, заполнены ли обязательные поля и насколько свежо последнее подтверждение. Снижают оценку расхождения между источниками и отсутствие идентификатора. Значение от 80 означает, что запись опубликована без дополнительной проверки; от 60 до 79 — что она опубликована с пониженной достоверностью и ручная проверка желательна. Запись, выверенную редактором вручную, пересчёт не опускает ниже 90. Это оценка наших данных о статье, а не оценка самой статьи.

Аннотация

Background: gene encoding the Kir6.2 channel's pore subunit. The E23K variant, previously linked to type 2 diabetes (T2DM), was examined in a large Lebanese cohort to determine its relationship to diabetic retinopathy (DR) severity and glycemic control. Methods: = 140) based on ETDRS criteria, and compared with 1,389 normoglycemic controls. Logistic regression was used to assess genetic associations across multiple inheritance models. Sensitivity analyses stratified by diabetes duration and area under the ROC curve (AUC) compared discrimination using age and sex, with or without genotype. Results: The K allele was more frequent in T2DM than in controls. Although E23K was not associated with overall DR, its effect was stage-specific. In comparisons of PDR with DWR, each additional K allele increased PDR odds, and K/K homozygosity showed a stronger recessive effect. The K/K genotype was notably enriched among DR patients with HbA1c ≤ 7.0%, indicating an elevated risk under good glycemic control, but showed no signal in those with poorer control. It was also overrepresented in PDR. Risk associations were more pronounced in individuals with diabetes duration ≥10 years, and adding genotype information resulted in a small increase in model discrimination beyond age and sex alone (AUC = 0.552-0.598; ΔAUC = 0.046). However, the overall discriminatory performance remained poor, suggesting limited clinical utility of E23K genotyping as an isolated predictive marker. Conclusion: E23K showed a stage-specific association with prevalent proliferative, vision-threatening DR rather than with earlier stages of retinopathy. This supports the potential utility of E23K as a marker of advanced retinopathy severity, although longitudinal studies in diverse ethnic groups are required to determine its relationship with disease progression.