Research Paper Volume 10, Issue 9 pp 2316—2337

The etiological effect of a new low-frequency ESR1 variant on Mild Cognitive Impairment and Alzheimer’s Disease: a population-based study

Figure 2. Risk of ESR1 rs9340803 in AD and MCI cases. (A) Allele frequency and genotype frequency of ESR1 rs9340803. C1: cohort 1 (200 AD case vs. 200 controls); C2: cohort 2 (580 AD cases vs. 1054 controls); C3: combined cohort (854 AD cases vs. 1254 controls); C4: CI cases vs. controls; HT: haplotype; HOT: haplotype in individuals aged 70 and more; GT: genotype; GOT: genotype in individuals aged 70 and more. (B) Comparisons between CI and CN individuals on rs9340803 minor allele distribution. E+: ESR1 rs9340803 G allele carrier; E-: ESR1 rs9340803 A allele carrier; A+: APOE ε4 carrier; A-: non-APOE ε4 carrier.