Abstract

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.

Highlights

  • One of the most striking features of the current worlds demographic dynamics is the process of population aging, that is, the increase in the absolute number and percentage of elderly people in the population as a whole, which has occurred since 1950, but mainly during the 21st century

  • The present study aimed to evaluate a possible association of estrogen receptor α polymorphisms with dementia in a Brazilian cohort

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

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Summary

Introduction

One of the most striking features of the current worlds demographic dynamics is the process of population aging, that is, the increase in the absolute number and percentage of elderly people in the population as a whole, which has occurred since 1950, but mainly during the 21st century. In an updated UN projection in 2019, the number of people aged 65 and over was 129 million in 1950, rising to 422 million by 2020 and expected to reach 2.5 billion by 2100 According to a UN 2019 survey, the number of elderly Brazilians (aged 60 and over) was 2.6 million in 1950, rising to 29.9 million by 2020 and expected to reach 72.4 million by 2100. Many neurocognitive disorders have similar or overlapping symptoms, making differential clinical diagnosis difficult [5]

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