Experimental Medicine Centre, Institute for Clinical and Experimental Medicine, Videnska 1958/9, Prague, 14021, Czech Republic.
Department of Anthropology and Human Genetics, Faculty of Science, Charles University, Vinicka 7, 12808, Prague, Czech Republic.
Mol Biol Rep. 2021 Aug;48(8):5873-5879. doi: 10.1007/s11033-021-06581-w. Epub 2021 Jul 30.
Common polymorphisms within the apolipoprotein E (APOE) gene are suggested to be associated with the development of type 2 diabetes mellitus (T2DM), but the potential association with T2DM complications (nephropathy, neuropathy and retinopathy) remains unclear. We perform the case-control study to analyse the association between the APOE polymorphism and risk of T2DM and to analysed the potential relationship between the APOE and T2DM complications.
APOE variants (rs429358 and rs7412) were genotyped by TaqMan assay in T2DM patients (N = 1274; N = 829 with complications including retinopathy, neuropathy and nephropathy status) and with PCR-RFLP in healthy nondiabetic controls (N = 2055). The comparison of subjects with genotypes associated with low plasma cholesterol (APOE2/E2 and APOE2/E3 carriers vs. others) did not show an association with T2DM (OR [95% CI] = 0.88 [0.71-1.08). The differences remained insignificant after adjusting for diabetes duration, sex and BMI. Carriers of at least one APOE4 allele (rs429358) are protected against T2DM related retinopathy (OR [95% CI] = 0.65 [0.42-0.99]. Protection against retinopathy is driven mostly by females (OR [95% CI] = 0.50 [0.25-0.99]); and remains significant (P = 0.044) after adjustment for diabetes duration and BMI.
Common APOE polymorphism was not associated with T2DM in the Czech population. Yet, APOE4 allele revealed an association with retinopathy. In particular, female T2DM patients with at least one APOE4 allele exhibit lower prevalence of retinopathy in our study subjects.
载脂蛋白 E (APOE) 基因中的常见多态性被认为与 2 型糖尿病 (T2DM) 的发展有关，但与 T2DM 并发症（肾病、神经病变和视网膜病变）的潜在关联尚不清楚。我们进行了病例对照研究，以分析 APOE 多态性与 T2DM 风险的关系，并分析了 APOE 与 T2DM 并发症之间的潜在关系。
采用 TaqMan 法检测 T2DM 患者（N=1274；N=829 例合并视网膜病变、神经病变和肾病）和健康非糖尿病对照者（N=2055）的 APOE 变异（rs429358 和 rs7412）。与低血浆胆固醇相关的基因型（APOE2/E2 和 APOE2/E3 携带者与其他基因型相比）的受试者比较并未显示与 T2DM 相关（OR [95% CI] = 0.88 [0.71-1.08）。调整糖尿病病程、性别和 BMI 后，差异仍无显著性。至少携带一个 APOE4 等位基因（rs429358）的个体可预防 T2DM 相关视网膜病变（OR [95% CI] = 0.65 [0.42-0.99]）。对糖尿病病程和 BMI 进行调整后，这种保护作用仍然显著（P=0.044）。
在捷克人群中，常见的 APOE 多态性与 T2DM 无关。然而，APOE4 等位基因与视网膜病变有关。特别是在我们的研究对象中，至少携带一个 APOE4 等位基因的女性 T2DM 患者，其视网膜病变的患病率较低。
