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Estrogen Receptor Gene Polymorphisms in Patients with Alzheimer’s Disease, Vascular Dementia and Alcohol-Associated Dementia

The association between the estrogen receptor (ER-α) gene and dementia was examined in 223 patients with Alzheimer’s disease (AD), 66 with vascular dementia (VD), 17 with alcohol-associated dementia (ALD) and 134 healthy elderly control subjects. The PvuII and XbaI restriction fragment length polymorphisms of the ER-α gene were represented as Pp (PvuII) and Xx (XbaI), with capital letters signifying the absence of restriction sites and small letters the presence of restriction sites. We found that the frequency of the ER-α gene P allele and X allele in the late-onset AD (LOAD) group (P allele was 0.51, X allele was 0.30) was significantly higher than that in controls (P 0.38, p < 0.01; X 0.20, p < 0.01), and that the frequency of the ER-α gene P allele and PP genotype was significantly different between apolipoprotein E ε4 carriers and noncarriers in LOAD. These findings suggest that the genotype of the ER-α gene may be specific in LOAD, and that the ER-α gene was an additional risk for LOAD.