Estrogen receptor alpha gene polymorphism associated with type 2 diabetes mellitus and the serum lipid concentration in Chinese women in Guangzhou

ESR1, FTO, and UCP2 Genes Interact with Bariatric Surgery Affecting Weight Loss and Glycemic Control in Severely Obese Patients

“…The FTO gene has been found widely expressed in fetal and adult tissues, with the highest expression level in the brain [19]. This genetic variant (rs9939609 in FTO) is not only a newly discovered locus for fat-related anthropometric indices but has also been found in several ethnic groups and in association with diabetes [55], which are the reasons why we included this locus in this study.…”

“…Three genes (ESR1, FTO, and PPARγ) have been reported to associate with obesity and the efficacy of bariatric surgeries for Chinese Han [17,18]. For the three genes, ESR1 is a ligand-activated transcription factor composed of several domains; FTO is a gene with unknown function, which was found widely expressed in fetal and adult tissues and with the highest expression level in the brain [19]. Uncoupling protein 2 (UCP2) is a cynosural one affecting the efficiency of energy metabolism [20,21].…”

Associations of the Estrogen Receptors 1 and 2 Gene Polymorphisms With the Metabolic Syndrome in Women

“…Significant associations between ESR1 and ESR2 and the MetS have been reported in younger populations, as well as African American and Chinese populations;17–19 however, postmenopausal or older women have not been specifically examined. Recently, ESR1, particularly intron 1 and intron 4–6, has been linked to type 2 diabetes mellitus16, 20. Based on these prior reports, we tested the relationship between the MetS and two ESR1-estrogen receptor polymorphisms (rs2234693 and rs9340799) and three ESR2-estrogen receptor polymorphisms (rs1271572, rs1256049 and rs4986938) in a sample of 532 predominantly postmenopausal, Caucasian women.…”

“…In animal models, ER-α knockout mice have insulin resistance, impaired glucose tolerance, and obesity, indicating that variation in estrogen receptor signaling may have relevant metabolic effects 12. Studies in postmenopausal women have found associations between estrogen receptor genes (ESR1 or ESR2) and the MetS components, particularly obesity and dyslipidemia 13–16…”

Estrogen receptor αlpha gene (ESR1) PvuII and XbaI polymorphisms are associated to metabolic and proinflammatory factors in polycystic ovary syndrome

“…These polymorphisms have been associated with male and female infertility, breast cancer, osteoporosis, Alzheimer's disease, cardiovascular diseases, hemostatic abnormalities, preeclampsia, increased abdominal circumference, systemic lupus erythematosus, T2DM, age at menarche, and the onset of menopause (Corbo et al, 2011;Molvarec et al, 2007b;Weel et al, 1999;Schuit et al, 2005;Huang et al, 2006;Stavrou et al, 2006;Lu et al, 2009). A possible functional mechanism attributed to the polymorphisms of the ESR1 gene includes a change in mRNA processing, producing different variants or isoforms of the protein.…”