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

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

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

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

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

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

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

Estrogen receptor alpha gene polymorphisms and risk of prostate cancer: a meta-analysis involving 18 studies.

Gu Z et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 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

Genetics of biliary lithiasis from an ethnic perspective.

Krawczyk M et al.

Clinics and Research in Hepatology and Gastroenterology, 2013

Multi-analytic approach elucidates significant role of hormonal and hepatocanalicular transporter genetic variants in gallstone disease in North Indian population.

Srivastava A et al.

Plos One, 2013

Significant role of estrogen and progesterone receptor sequence variants in gallbladder cancer predisposition: a multi-analytical strategy.

Srivastava A et al.

Plos One, 2012

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

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

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

Steroid hormone receptor gene polymorphisms and osteoporosis: a pharmacogenomic review.

Gennari L et al.

Expert Opinion on Pharmacotherapy, 2007

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

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

Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.

Srivastava K et al.

Mutation Research, 0

CORRELATIONS BETWEEN POLYMORPHISMS OF ESTROGEN 1, VITAMIN D RECEPTORS AND HORMONAL PROFILE IN INFERTILE MEN.

Vladoiu S et al.

Acta Endocrinologica (bucharest, Romania : 2005), 0

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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."