Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.R151Splc
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ESR1

NM_000125.4:p.R151Splc

Associated Papers

Serum PTH ≥ 40 pg/mL as a Marker of Bone Fragility and Vitamin D Deficiency in Periodontitis Patients: Biochemical, Densitometric and Genetic Evidence.

Marroncini G et al.

Biomolecules, 2025

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Gene variants polymorphisms and uterine leiomyoma: an updated review.

Upadhyay S et al.

Frontiers in Genetics, 2024

Targeting the non-coding genome and temozolomide signature enables CRISPR-mediated glioma oncolysis.

Tan IL et al.

Cell Reports, 2023

37917583 (PubMed )
Supplement: NIHMS1948186-supplement-2.xlsx › All-Pat-ClinVar_Non-Coding

Association Between Follicle-Stimulating Hormone Receptor (FSHR) rs6166 and Estrogen Receptor 1 (ESR1) rs2234693 Polymorphisms and Polycystic Ovary Syndrome Risk, Phenotype, and Reproductive Outcomes in an Infertile Portuguese Population.

Vieira IH et al.

Cureus, 2023

Association of ESR1 (rs2234693 and rs9340799), CETP (rs708272), MTHFR (rs1801133 and rs2274976) and MS (rs185087) polymorphisms with Coronary Artery Disease (CAD).

Raina JK et al.

Bmc Cardiovascular Disorders, 2020

Effect of Estrogen Receptor- Alpha Gene Polymorphism (IVS1-397 T>C) on Microvascular Complications of Type 1 Diabetes Mellitus.

Toaima DN et al.

Current Diabetes Reviews, 2020

Protective effect of oestrogen receptor α-PvuII transition against idiopathic male infertility: a case-control study and meta-analysis.

Mobasseri N et al.

Reproductive Biomedicine Online, 2019

Clinical Importance of Estrogen Receptor 1 (ESR1) Gene Polymorphisms and Their Expression Patterns in Coronary Artery Disease Patients: A Study from India.

Sumi MP et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2019

Estrogen receptor α gene polymorphism and vascular complications in girls with type 1 diabetes mellitus.

Słomiński B et al.

Molecular and Cellular Biochemistry, 2018

Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1.

Zimmermann A et al.

Therapeutics and Clinical Risk Management, 2018

The polymorphism of estrogen receptor α is important for metabolic consequences associated with menopause.

Pinkas J et al.

Endokrynologia Polska, 2016

Sex Steroid Hormone Single-Nucleotide Polymorphisms, Pesticide Use, and the Risk of Prostate Cancer: A Nested Case-Control Study within the Agricultural Health Study.

Christensen CH et al.

Frontiers in Oncology, 2016

27917368 (PubMed )
Supplement: Table_2.XLS › SNP_main_effect

Association between estrogen receptora gene (ESR1) PvuII (T/C) and XbaI (A/G) polymorphisms and premature ovarian failure risk: evidence from a meta-analysis.

He M et al.

Journal of Assisted Reproduction and Genetics, 2015

Recent genetic discoveries in osteoporosis, sarcopenia and obesity.

Urano T et al.

Endocrine Journal, 2015

The influence of genetic variability and proinflammatory status on the development of bone disease in patients with Gaucher disease.

Gervas-Arruga J et al.

Plos One, 2015

Plasma estrogen levels, estrogen receptor gene variation, and ischemic arterial disease in postmenopausal women: the three-city prospective cohort study.

Scarabin-Carré V et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Lack of association between ESR1 gene polymorphisms and premature ovarian failure in Serbian women.

Li J et al.

Climacteric : the Journal of the International Menopause Society, 2014

CYP2D6 genotype in relation to hot flashes as tamoxifen side effect in a Dutch cohort of the tamoxifen exemestane adjuvant multinational (TEAM) trial.

Dezentjé VO et al.

Breast Cancer Research and Treatment, 2014

CYP2D6 genotype in relation to tamoxifen efficacy in a Dutch cohort of the tamoxifen exemestane adjuvant multinational (TEAM) trial.

Dezentjé VO et al.

Breast Cancer Research and Treatment, 2013

Estrogen receptor alpha gene polymorphisms and risk of HBV-related acute liver failure in the Chinese population.

Yan Z et al.

Bmc Medical Genetics, 2012

Genetic determinants of aggression and impulsivity in humans.

Pavlov KA et al.

Journal of Applied Genetics, 2012

A cis-acting regulatory variation of the estrogen receptor α (ESR1) gene is associated with hepatitis B virus-related liver cirrhosis.

Yan Z et al.

Human Mutation, 2011

The association of the IVS1-397T>C estrogen receptor α polymorphism with the regulatory conditions in longstanding type 1 diabetic girls.

Ryba M et al.

Molecular Immunology, 2011

Estrogen receptor polymorphisms and the vascular effects of hormone therapy.

Rossouw J et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2011

Association between estrogen receptor alpha gene polymorphisms and bone mineral density in Polish female patients with Graves' disease.

Ignaszak-Szczepaniak M et al.

Acta Biochimica Polonica, 2011

Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.

Wakai K et al.

Journal of Epidemiology, 2011

Estrogen receptor-alpha gene polymorphisms and body composition in children and adolescents.

Voorhoeve PG et al.

Hormone Research in Paediatrics, 2011

Role of the oestrogen receptor (ESR1 PvuII and ESR1 325 C->G) and progesterone receptor (PROGINS) polymorphisms in genetic susceptibility to migraine in a North Indian population.

Joshi G et al.

Cephalalgia : an International Journal of Headache, 2010

Lack of association between oestrogen receptor polymorphisms and change in bone mineral density with tamoxifen therapy.

Henry NL et al.

British Journal of Cancer, 2010

Qualitative assessment of previous evidence and an updated meta-analysis confirms lack of association between the ESR1 rs2234693 (PvuII) variant and coronary heart disease in men and women.

Lluís-Ganella C et al.

Atherosclerosis, 2009

Inflammatory response of coronary artery disease postmenopausal women is associated with the IVS1-397T > C estrogen receptor alpha polymorphism.

Myśliwska J et al.

Clinical Immunology (orlando, Fla.), 2009

Estrogen receptor 1 gene polymorphisms in premenopausal women: interaction between genotype and smoking on lipid levels.

Almeida S et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2008

Gender-specific effect of estrogen receptor-1 gene polymorphisms in coronary artery disease and its angiographic severity in Chinese population.

Xu H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

Estrogen receptor alpha CA dinucleotide repeat polymorphism is associated with rate of bone loss in perimenopausal women and bone mineral density and risk of osteoporotic fractures in postmenopausal women.

Lai BM et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2008

Investigating the phenotypes and genotypes of breast cancer in women with African ancestry: the need for more genetic epidemiology.

Hayanga AJ et al.

The Surgical Clinics of North America, 2007

Estrogen receptor alpha polymorphism and risk of cardiovascular disease, cancer, and hip fracture: cross-sectional, cohort, and case-control studies and a meta-analysis.

Kjaergaard AD et al.

Circulation, 2007

Sex steroid hormone polymorphisms, high-density lipoprotein cholesterol, and apolipoprotein A-1 from the Study of Women's Health Across the Nation (SWAN).

Sowers MR et al.

The American Journal of Medicine, 2006

ESR1 and APOE gene polymorphisms, serum lipids, and hormonal replacement therapy.

Almeida S et al.

Maturitas, 2006

Estrogen receptor 1 gene polymorphisms and coronary artery disease in the Brazilian population.

Almeida S et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2006

Genotype distribution of estrogen receptor-alpha, catechol-O-methyltransferase, and cytochrome P450 17 gene polymorphisms in Caucasian women with uterine leiomyomas.

Denschlag D et al.

Fertility and Sterility, 2006

Assessment of linkage and association of 13 genetic loci with bone mineral density.

Lau HH et al.

Journal of Bone and Mineral Metabolism, 2006

Oestrogen receptor {alpha} gene polymorphisms in systemic lupus erythematosus.

Johansson M et al.

Annals of the Rheumatic Diseases, 2005

Polymorphisms in the estrogen receptor alpha gene and mammographic density.

van Duijnhoven FJ et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

Estrogen receptor alpha gene polymorphisms are associated with estradiol levels in postmenopausal women.

Schuit SC et al.

European Journal of Endocrinology, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."