BACKGROUND: 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. METHODS AND RESULTS: 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. CONCLUSION: 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.

3rd Department of Internal Medicine 1st Faculty of Medicine Charles University U Nemocnice 1 12808 Prague Czech Republic

Department of Anthropology and Human Genetics Faculty of Science Charles University Vinicka 7 12808 Prague Czech Republic

Department of Pathophysiology Faculty of Medicine Masaryk University Kamenice 753 5 62500 Brno Czech Republic

Department of Preventive Cardiology Institute for Clinical and Experimental Medicine Videnska 1958 9 Prague 14021 Czech Republic

Diabetes Centre Institute for Clinical and Experimental Medicine Videnska 1958 9 Prague 14021 Czech Republic

Experimental Medicine Centre Institute for Clinical and Experimental Medicine Videnska 1958 9 Prague 14021 Czech Republic

Statistical Unit Institute for Clinical and Experimental Medicine Videnska 1958 9 Prague 14021 Czech Republic

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