From: The algorithm for Alzheimer risk assessment based on APOE promoter polymorphisms
Genetic marker | MAF (patients with AD) | MAF (control group) | Alzheimer disease | Presence of E4 isoform | Presence of E2 isoform | ApoE serum level |
---|---|---|---|---|---|---|
rs449647 (AT) | 15.0 % | 21.8 % | Allele T OR 0.63 (95 % CI 0.39–1.01), p 0.07 | Underrepresented in carriers of allele Ta,b genotypes AT, TTa,b | Correlates with allele Ta,c genotypes AT, TTa,c | Lower ApoE levels in carriers of allele Ad |
rs769446 (TC) | 5.9 % | 6.8 % | n.s. | n.s. | Correlates with allele C,a,c genotypes TC, CCa,c | n.s. |
rs405509 (TG) | 39.8 % | 55.9 % | Allele Ga,c OR 0.52 (95 % CI 0.36–0.75) | Underrepresented in carriers of allele G,d genotypes TG, GGa,b | Correlates with allele G,a,c genotypes TG, GGa,c | n.s. |
rs440446 (CG) | 33.5 % | 38.6 % | n.s. | Underrepresented in carriers of allele C,a,c genotypes GC, CCa,c | Correlates with allele C,a,c genotypes GC, CCa,c | n.s. |
rs429358 (TC) | 28.9 % | 9.1 % | Allele Ca,c OR 4.1 (95 % CI 2.4–6.9) | N/A | N/A | Lower ApoE levels in carriers of allele C,a,b genotypes CT, CCa,c |
rs7412 (CT) | 3.9 % | 6.4 % | n.s. | N/A | N/A | Higher ApoE levels in carriers of allele Td |
E4 | N/A | N/A | OR 4.7a,c (95 % CI 2.5–8.6) | N/A | N/A | Lower ApoEe levels in carriers of E4a,c |
E2 | N/A | N/A | OR 0.40 (95 % CI 0.15–1.07), p 0.1 | N/A | N/A | Higher ApoEe levels in carriers of E2a,b |