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Table 2 Correlation between the studied SNPs of the APOE gene and the risk of AD, presence of APOE isoforms and ApoE serum levels

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
  1. ApoE apolipoprotein E, AD Alzheimer disease, E epsilon isoform of the apolipoprotein E, MAF minor allele frequency; n.s. not significant, N/A not applicable, OR odds ratio, CI confidence interval
  2. aAssociations that survived the correction for multiple testing (Bonferroni correction)
  3. b p < 0.01
  4. c p < 0.001
  5. d p < 0.05
  6. eDetailed description with respect to all genotypes is provided in the Results section