rs1256049

[PMID 18939943] rs1256049(A) allele carriers have higher mean carotid artery intima-media thickness (CIMT) as well as maximal CIMT, but this result may be limited to the population studied, in this case individuals from the Cardiovascular Risk in Young Finns study.

[PMID 19298602] Isoflavone, polymorphisms in estrogen receptor genes and breast cancer risk in case-control studies in Japanese, Japanese Brazilians and non-Japanese Brazilians.

[PMID 19111408] Association of estrogen receptor 2 gene polymorphisms with obesity in women (obesity and estrogen receptor 2 gene)

[PMID 19032032] Associations of the estrogen receptors 1 and 2 gene polymorphisms with the metabolic syndrome in women

[PMID 19715484] No Association between Estrogen Receptor Beta (ESR2) Polymorphisms and Uterine Leiomyoma

[PMID 20390341] A systematic review of the relationship between polymorphic sites in the estrogen receptor-beta (ESR2) gene and breast cancer risk

[PMID 20172949] Polymorphisms of estrogen receptors and risk of biliary tract cancers and gallstones: a population-based study in Shanghai, China

[PMID 21523342] Association of Rsa polymorphism of the estrogen receptor-? gene with rheumatoid arthritis

[PMID 22511967] Potential Role of Aromatase over Estrogen Receptor Gene Polymorphisms in Migraine Susceptibility: A Case Control Study from North India

[PMID 22678799] [Association between estrogen receptor beta gene polymorphisms in Chinese Uygur patients and intrahepatic cholestasis of pregnancy]

[PMID 22759347] Association of estrogen receptor beta variants and serum levels of estradiol with risk of colorectal cancer: a case control study

[PMID 16083630] [Association between single-nucleotide polymorphisms in estrogen receptor beta gene and risk of prostate cancer].

[PMID 16118344] Polymorphisms in the estrogen receptor beta (ESR2) gene are associated with bone mineral density in Caucasian men and women.

[PMID 17540666] Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization.

[PMID 17916182] CA repeat and RsaI polymorphisms in ERbeta gene are not associated with infertility in Indian men.

[PMID 17935138] Haplotypes of the estrogen receptor beta gene and breast cancer risk.

[PMID 18053221] Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis–a cohort study.

[PMID 18304720] Estrogen receptor beta gene haplotype is associated with pelvic organ prolapse.

[PMID 18487282] Association between ESR2 genetic variants and risk of myocardial infarction.

[PMID 18579753] Vascular actions of estrogens: functional implications.

[PMID 18592033] Sex steroid-related candidate genes in psychiatric disorders.

[PMID 18627768] Pharmacogenetics of hormone replacement therapy for climacteric symptoms.

[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II–endometriosis.

[PMID 18980759] Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect.

[PMID 18992263] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.

[PMID 19337586] Do Estrogen Receptor beta Polymorphisms Play A Role in the Pharmacogenetics of Estrogen Signaling?

[PMID 19438492] Estrogen receptor polymorphisms and the risk of endometrial cancer.

[PMID 19555469] A prospective study of androgen levels, hormone-related genes and risk of rheumatoid arthritis.

[PMID 19630952] Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women.

[PMID 19927160] Association between ESR1 and ESR2 gene polymorphisms and hyperlipidemia in Chinese Han postmenopausal women.

[PMID 20346360] Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.

[PMID 20655613] Haplotypes of estrogen receptor-beta and risk of non-small cell lung cancer in women.

[PMID 21429951] Quantitative trait analysis suggests polymorphisms of estrogen-related genes regulate human sperm concentrations and motility.

[PMID 21570196] Estrogen receptor gene variants are associated with anxiety disorders in older women.

[PMID 21762042] Oestrogen receptor polymorphisms in female patients with rheumatoid arthritis.

[PMID 21804148] Oestrogen receptor polymorphisms and late-life depression.

[PMID 22228197] Estrogen receptors alpha (rs2234693 and rs9340799), and beta (rs4986938 and rs1256049) genes polymorphism in prostate cancer: Evidence for association with risk and histopathological tumor characteristics in Iranian men.

[PMID 22324545] Are polymorphisms in oestrogen receptors genes associated with lipid levels in response to hormone therapy?

[PMID 22463697] Association of polymorphisms in the estrogen receptor beta (ESR2) with unexplained recurrent spontaneous abortion (URSA) in Chinese population.

[PMID 23352710] The single nucleotide polymorphism (SNP) of the estrogen receptor-β gene, rs1256049, is associated with knee osteoarthritis in Korean population

[PMID 23506158] Estrogen receptor alpha single nucleotide polymorphism as predictor of diabetes type 2 risk in hypogonadal men

[PMID 23686919] Impact of polymorphisms in the oestrogen receptors alpha and beta (ESR1, ESR2) genes on risk of vasculogenic erectile dysfunction

[PMID 23274843] Given breast cancer, is fat better than thin? Impact of the estrogen receptor beta gene polymorphisms

[PMID 24859835] The influence of ESR1 rs9340799 and ESR2 rs1256049 polymorphisms on prostate cancer risk

[PMID 25128001] Polymorphisms in estrogen receptors predict the risk of male infertility: a meta-analysis

[PMID 25973102] Single nucleotide polymorphisms of ERβ and coronary atherosclerotic disease in Chinese Han women

rs1256049 is a SNP in the ESR2 gene. This SNP has strong associations with cancer and inflammation in the joints.

The ''T'' allele is associated with preclinical atherosclerosis in young adulthood. Compared with subjects with genotype CC, those with the ''T'' allele had higher mean carotid artery intima-media thickness (CIMT) (p = 0.004) and maximal CIMT (p = 0.005) [R]. 

Both mutant allele ''C'' and genotype CC were significantly higher in rheumatoid arthritis (RA) than in osteoarthritis (OA) patients (allele P = 0.008, OR: 1.501). Also, in RA patients, the CC genotype frequency was higher in severe RA patients than mild RA patients. With respect to gender, CC genotype was statistically more frequent in female RA patients than that of OA patients [R].

CT/TT genotypes were associated with reduced risk of colorectal cancer (CRC) (odds ratio [OR], 0.7)  [R].

The ''T'' allele was associated with an increased risk of generalised anxiety disorder (GAD) (OR: 2.06) [R].

The ''T'' allele increased the risk of depression, but only for non-current users of hormone treatment (oestrogen receptor polymorphisms) [R]. 

The ''T'' allele and TT homozygotes had a significantly increased risk of osteoarthritis (OA) [R]. 

TT+TC vs CC genotypes had a significant association with prostate cancer in Caucasians (AA+AG vs GG P = 0.016; A vs. G: P = 0.005) [R]. 

CT genotype was associated with an increased risk for male infertility (GA vs. GG OR = 1.52  and AA + GA vs. GG OR = 1.74) [R].