Research Papers:

Estrogen receptor α polymorphism is associated with dementia in a Brazilian cohort

Rafaella Papalino Lopes Magnago, Valerio Garrone Barauna _, Bruna Ferro Brun, Ana Cristina Lo Prete, Aline Morgan Alvarenga, Luciene C. Gastalho Campos, Neuza Felix Gomes Rochette, Letícia Batista Azevedo Rangel, Rodrigo Alves Faria, Paulo Caleb Junior Lima Santos and Ian Victor Silva

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Oncotarget. 2020; 11:4655-4660. https://doi.org/10.18632/oncotarget.27744

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Rafaella Papalino Lopes Magnago1, Valerio Garrone Barauna1, Bruna Ferro Brun1, Ana Cristina Lo Prete2,4, Aline Morgan Alvarenga2, Luciene C. Gastalho Campos3, Neuza Felix Gomes Rochette1, Letícia Batista Azevedo Rangel1, Rodrigo Alves Faria1, Paulo Caleb Junior Lima Santos2 and Ian Victor Silva1

1 Universidade Federal do Espirito Santo - UFES, Vitória, ES, Brazil

2 Universidade Federal de São Paulo, Escola Paulista de Medicina - EPM/Unifesp, São Paulo, SP, Brazil

3 Universidade Estadual de Santa Cruz – UESC, Ilhéus, BA, Brazil

4 Universidade São Judas - USJ, São Paulo, SP, Brazil

Correspondence to:

Valerio Garrone Barauna,email: [email protected]

Keywords: dementia; elderly; estrogen receptor α; polymorphism

Received: December 10, 2019     Accepted: March 03, 2020     Published: December 15, 2020

Copyright: © 2020 Magnago et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


The growth of the elderly population is a worldwide phenomenon and it is associated with chronic diseases, including dementia. In this scenario, the present study aimed to evaluate a possible association of estrogen receptor α polymorphisms with dementia in a Brazilian cohort. The subject sample was divided into two groups, control (n = 105) and case (n = 73), according to analysis of two predictive dementia tests (MMSE and CDR). The genotyping for the ERα PvuII (c.454-397T>C, rs2234693) and XbaI (c.454-351A>G, rs9340799) polymorphisms were performed by polymerase chain reaction-restriction fragment length polymorphism. The ERα PvuII pp genotype was associated with higher odds ratio for dementia (OR = 3.42, 95% CI = 1.33–8.77, p = 0.01, in a model including covariates. A linear regression model identified significant associations of the ERα PvuII genotypes (independent variable) with CDR scale (dependent variable), β = 0.26 and p = 0.001. In conclusion, estrogen receptor α PvuII polymorphism is associated with dementia in a Brazilian cohort. This finding may be useful for the identification of a possible set of significant genetic and clinical biomarkers for better understanding pathophysiology, early diagnosis and management of dementia.

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