Estrogen receptor-alpha gene XbaI A &gt; G polymorphism influences short-term cognitive decline in healthy oldest-old individuals

Chaves, Amanda Caroline Silva; Fraga, Vanêssa Gomes; Guimarães, Henrique Cerqueira; Teixeira, Antônio Lúcio; Barbosa, Maira Tonidandel; Carvalho, Maria das Graças; Mota, Ana Paula Lucas; Silva, Iêda de Fátima Oliveira; Caramelli, Paulo; Gomes, Karina Braga; Alpoim, Patrícia Nessralla

doi:10.1590/0004-282x20170018

Cited by 5 publications

(5 citation statements)

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“…The specific ESR1 SNP detected as associated with cognitive impairment in our study is not in linkage disequilibrium with the SNPs reported in Yaffe et al (r2 ≤ 0.014) and are greater than 100 kB distant from these SNPs, therefore likely represent a different association signal. Genetic alterations in the estrogen metabolic pathway have been reported to be associated with risk of Alzheimer's Disease in a study of a southern Chinese population 52 and association of ESR1 with one-year cognitive decline in healthy oldest-old individuals has also been cited 53 . www.nature.com/scientificreports/ The RYR3 gene codes for the ryanodine receptor that functions to release calcium from intracellular storage for use in cellular signaling and biochemical processes.…”

Section: Discussionmentioning

confidence: 99%

Genetic and non-genetic factors associated with the phenotype of exceptional longevity & normal cognition

Han

Chen

Yao

et al. 2020

Sci Rep

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In this study, we split 2156 individuals from the Chinese Longitudinal Healthy Longevity Survey (CLHLS) data into two groups, establishing a phenotype of exceptional longevity & normal cognition versus cognitive impairment. We conducted a genome-wide association study (GWAS) to identify significant genetic variants and biological pathways that are associated with cognitive impairment and used these results to construct polygenic risk scores. We elucidated the important and robust factors, both genetic and non-genetic, in predicting the phenotype, using several machine learning models. The GWAS identified 28 significant SNPs at p-value $$< 3 \times 10^{-5}$$ < 3 × 10 - 5 significance level and we pinpointed four genes, ESR1, PHB, RYR3, GRIK2, that are associated with the phenotype though immunological systems, brain function, metabolic pathways, inflammation and diet in the CLHLS cohort. Using both genetic and non-genetic factors, four machine learning models have close prediction results for the phenotype measured in Area Under the Curve: random forest (0.782), XGBoost (0.781), support vector machine with linear kernel (0.780), and $$\ell _2$$ ℓ 2 penalized logistic regression (0.780). The top four important and congruent features in predicting the phenotype identified by these four models are: polygenic risk score, sex, age, and education.

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Section: Discussionmentioning

confidence: 99%

Genetic and non-genetic factors associated with the phenotype of exceptional longevity & normal cognition

Han

Chen

Yao

et al. 2020

Sci Rep

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“…The studies conducted to-date demonstrate that persons with genotype XbaI GG remain stable or show improvement with respect to cognitive functioning [ 48 ], while those with genotype XbaI AA are at an increased risk of the development of AD [ 49 , 50 ].…”

Section: Discussionmentioning

confidence: 99%

Oestrogen receptor α gene polymorphisms, insomnia, and cognitive functions in perimenopausal and postmenopausal women in non-manual employment

et al. 2020

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IntroductionA potential way to explain the relationships between sleep disorders and cognitive disorders during menopausal transition is the identification of genetic markers related to changes in cognitive functions, as well as changes in quality of sleep during menopause. The objective was an analysis of the relationship between sleep disorders and cognitive disorders, according to the possessed oestrogen receptor α gene polymorphism (ESR1) in perimenopausal and postmenopausal women.Material and methodsThe study included 300 women aged 44–66 years, employed as non-manual workers. A computerised battery of the Central Nervous System Vital Signs (CNS VS) test was used to diagnose cognitive functions. ESR1 polymorphisms were genotyped using PCR-RFLP methods. The Athens Insomnia Scale was used to diagnose sleep disorders.ResultsMore severe insomnia was related to worse complex memory, visual memory, and simple attention in the total group of examined women. More severe insomnia was related to worse simple attention in women with genotypes AG Xba I or TC Pvu II ESR1, in perimenopausal women with genotypes AG Xba I or TC Pvu II ESR1. During the postmenopausal period, the severity of insomnia negatively correlated with visual memory in carriers of Pvu II TT, and with reaction time in carriers of Xba I AA.ConclusionsThe results indicate an important role of oestrogen receptor α gene polymorphism in the modulation of the effect of insomnia on cognitive functions in peri- and postmenopausal women.

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“…The challenging reality of this century is global aging. According to one study, about 576 million people having 65 years of age and above were present in 2010 (Chaves et al, 2017). By the year 2050, this number will become 1.5 billion (Lara, 2018).…”

Section: Introductionmentioning

confidence: 99%

Aging - Oxidative stress, antioxidants and computational modeling

Warraich

Hussain

Kayani

2020

Heliyon

124

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Aging is a degenerative, biological, time-dependent, universally conserved process thus designed as one of the highest known risk factors for morbidity and mortality. Every individual has its own aging mechanisms as both environmental conditions (75%) and genetics (25%) account for aging. Several theories have been proposed until now but not even a single theory solves this mystery. There are still some queries un-answered to the scientific community regarding mechanisms behind aging. However, oxidative stress theory (OST) is considered one of the famous theories that sees mitochondria as one of the leading organelles which largely contribute to the aging process. Many reactive oxygen species (ROS) are produced endogenously and exogenously that are associated with aging. But the mitochondrial ROS contribute largely to the aging process as mitochondrial dysfunction due to oxidative stress is considered one of the contributors toward aging. Although ROS is known to damage cell machinery, new evidence suggests their role in signal transduction to regulate biological and physiological processes. Moreover, besides mitochondria, other important cell organelles such as peroxisome and endoplasmic reticulum also produce ROS that contribute to aging. However, nature has provided humans with free radical scavengers called antioxidants that protect from harmful effects of ROS. Future predictions regarding aging, biochemical mechanisms involved, biomarkers internal and external factors can be easily done with machine learning algorithms and other computational models. This review explains important aspects of aging, the contribution of ROS producing organelles in aging, importance of antioxidants fighting against ROS, different computational models developed to understand the complexities of the aging.

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Estrogen receptor-alpha gene XbaI A > G polymorphism influences short-term cognitive decline in healthy oldest-old individuals

Cited by 5 publications

References 20 publications

Genetic and non-genetic factors associated with the phenotype of exceptional longevity & normal cognition

Genetic and non-genetic factors associated with the phenotype of exceptional longevity & normal cognition

Oestrogen receptor α gene polymorphisms, insomnia, and cognitive functions in perimenopausal and postmenopausal women in non-manual employment

Aging - Oxidative stress, antioxidants and computational modeling

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