ArticleBMJ open2013
Oestrogen receptor polymorphisms are an associated risk factor for mild cognitive impairment and Alzheimer disease in women APOE {varepsilon}4 carriers: a case-control study.
Article in BMJ open, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Estrogen receptor beta (ESR2) gene polymorphism and susceptibility to dementia.Acta neurologica Belgica · 2021Pooled it
- Beyond Estrogen: Unraveling the Complexities of Hormonal Signaling Pathways in Alzheimer's Disease and Their Implications for Precision Therapy.Molecular neurobiology · 2025Review
- Exploring sex-specific risk factors in cognitive decline: Insights into modifiable and non-modifiable determinants using a network analysis.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Biomarkers in Alzheimer's disease: new frontiers with olfactory models.Inflammopharmacology · 2025Review
- Role of estrogen in women's Alzheimer's disease risk as modified by APOE.Journal of neuroendocrinology · 2023Review
- Neurobiological Highlights of Cognitive Impairment in Psychiatric Disorders.International journal of molecular sciences · 2022Review
- Genomics as a Clinical Decision Support Tool for Identifying and Addressing Modifiable Causes of Cognitive Decline and Improving Outcomes: Proof of Concept Support for This Personalized Medicine Strategy.Frontiers in aging neuroscience · 2022Article
- Effect of interactions betweenArchives of medical science : AMS · 2021Article
- Estrogen Signaling in Alzheimer's Disease: Molecular Insights and Therapeutic Targets for Alzheimer's Dementia.Molecular neurobiology · 2020Review
- The Role of Sex and Sex Hormones in Neurodegenerative Diseases.Endocrine reviews · 2020Review
- Potential Fluid Biomarkers for the Diagnosis of Mild Cognitive Impairment.International journal of molecular sciences · 2019Review
- The etiological effect of a new low-frequencyAging · 2018Article
- Genome-wide network-based pathway analysis of CSF t-tau/Aβ1-42 ratio in the ADNI cohort.BMC genomics · 2017Article
- Obesity and sex interact in the regulation of Alzheimer's disease.Neuroscience and biobehavioral reviews · 2016Review
- Differential Regulation of Morphology and Estrogen Receptor-Alpha Expression in the Vagina of Ovariectomized Adult Virgin Rats by Estrogen Replacement: A Histological Study.International journal of endocrinology · 2016Article
- Estrogen receptor β in Alzheimer's disease: From mechanisms to therapeutics.Ageing research reviews · 2015Review
Corrections and comments
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Authors and funding
16 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesExamine the role of single nucleotide polymorphisms (SNPs) in the oestrogen receptor (ER) genes: rs9340799, rs2234693, rs2228480 (in the ESR1 gene) and rs4986938 (in the ESR2 gene) as a risk factor for amnesic mild cognitive impairment (MCIa) and Alzheimer's disease (AD) and its possible association with the apolipoprotein E (APOE) gene.
designWe have investigated the independent and combined association of different alleles of the oestrogen receptor genes and APOE*ε4 allele with cognitive impairment using a case-control design.
settingParticipants were prospectively recruited from the neurology departments of several Basque Country hospitals.
participantsThis study comprised 816 Caucasian participants who were aged 50 years and older: 204 MCIa, 350 sporadic patients with AD and 262 healthy controls. PRIMARY AND SECONDARY OUTCOME MEASURES: Clinical criteria and neuropsychological tests were used to establish the diagnostic groups (MCIa, AD and healthy controls). A dichotomous variable was used for each allele and genotype and the association with MCIa and AD was established using Logistic Regression Models.
resultsNeither alleles nor genotypes of SNPs rs9340799, rs2234693, rs2228480 and rs4986938 of oestrogen receptor genes (ESR1 and ESR2) are independently associated with the risk of MCIa or AD. However, the genetic profile created with the combination of the less represented alleles of these SNPs (expressed as XPAA) was associated with an increased risk for MCIa (OR=3.30, 95% CI 1.28 to 8.54, p=0.014) and AD (OR=5.16, 95% CI 2.19 to 12.14, p<0.001) in women APOE*ε4 allele carriers.
conclusionsThe less represented alleles of SNPs studied are associated with MCIa and AD in APOE*E4 carriers. In particular, the genetic profile created with the less represented alleles of ESR1 and ESR2 SNPs are associated with an increased risk for MCIa and AD in women APOEε4 allele carriers.
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