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Estrogen receptor α and APOE ɛ 4 polymorphisms interact to increase risk for sporadic AD in Italian females
Author(s) -
Porrello E.,
Monti M. C.,
Sinforiani E.,
Cairati M.,
Guaita A.,
Montomoli C.,
Govoni S.,
Racchi M.
Publication year - 2006
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2006.01333.x
Subject(s) - medicine , apolipoprotein e , estrogen , estrogen receptor , endocrinology , bioinformatics , oncology , disease , breast cancer , biology , cancer
Alzheimer's disease (AD) is a progressive neurodegenerative disease that affects both sexes, with a higher prevalence in women. Declining estrogen levels after menopause may render estrogen target neurons in the brain more susceptible to age or disease‐related processes such as AD. To investigate the role of two single nucleotide polymorphisms in the first intron of the ER ‐ α gene, denominated Pvu II and Xba I, and their interaction with the known AD susceptibility gene APOE , we examined 131 patients with sporadic AD and 109 healthy control subjects. In multinomial logistic regression analysis, a significantly increased risk of sporadic AD because of interaction between the ER‐ α p allele and APOE ɛ 4 allele was observed in women, taking subjects who had neither the p allele nor ɛ 4 as reference [odds ratio (OR) 7.24; 95% CI, 2.22–23.60]. For women carrying the ER‐ α x allele together with APOE ɛ 4, the risk of sporadic AD was similarly elevated (OR 8.33; 95% CI, 1.73–40.06). The data suggest that the p and x alleles of polymorphic ER ‐ α gene interact synergistically with the APOE ɛ 4 allele to increase the risk of AD in women but not in men in this Italian cohort.