rs1271572, ESR2

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE The recessive model of ESR2 rs1271572 and the dominant model of ESR2 rs3020450 might be susceptible factors for ovarian cancer. 29535531 2018
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
0.030 GeneticVariation BEFREE The recessive model of ESR2 rs1271572 and the dominant model of ESR2 rs3020450 might be susceptible factors for ovarian cancer. 29535531 2018
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE This pooled analysis suggests that rs1271572 might influence the risk of ovarian cancer, in particular among younger women. 21673961 2011
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
0.030 GeneticVariation BEFREE This pooled analysis suggests that rs1271572 might influence the risk of ovarian cancer, in particular among younger women. 21673961 2011
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
0.030 GeneticVariation BEFREE Compared to homozygous common allele carriers, homozygous carriers of variant alleles for rs1271572 [odds ratio (OR) = 1.79, 95% confidence interval (CI):1.15-2.79, p global = 0.01] and rs1256030 [OR = 1.67, CI: 1.08-2.59, p global = 0.04], and women with haplotypes, including variant alleles of rs1271572, rs1256030, and rs1256031 SNPs [OR = 1.75, CI: 1.17-2.63, p global = 0.007], had significantly increased risk of ovarian carcinoma. 18704709 2009
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE Compared to homozygous common allele carriers, homozygous carriers of variant alleles for rs1271572 [odds ratio (OR) = 1.79, 95% confidence interval (CI):1.15-2.79, p global = 0.01] and rs1256030 [OR = 1.67, CI: 1.08-2.59, p global = 0.04], and women with haplotypes, including variant alleles of rs1271572, rs1256030, and rs1256031 SNPs [OR = 1.75, CI: 1.17-2.63, p global = 0.007], had significantly increased risk of ovarian carcinoma. 18704709 2009
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.020 GeneticVariation BEFREE The recessive model of ESR2 rs1271572 and the dominant model of ESR2 rs3020450 might be susceptible factors for ovarian cancer. 29535531 2018
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.020 GeneticVariation BEFREE This pooled analysis suggests that rs1271572 might influence the risk of ovarian cancer, in particular among younger women. 21673961 2011
Ovarian Carcinoma
CUI: C0029925
Disease: Ovarian Carcinoma
0.020 GeneticVariation BEFREE Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma risk: pooled analysis within the Ovarian Cancer Association Consortium. 21673961 2011
Ovarian Carcinoma
CUI: C0029925
Disease: Ovarian Carcinoma
0.020 GeneticVariation BEFREE Compared to homozygous common allele carriers, homozygous carriers of variant alleles for rs1271572 [odds ratio (OR) = 1.79, 95% confidence interval (CI):1.15-2.79, p global = 0.01] and rs1256030 [OR = 1.67, CI: 1.08-2.59, p global = 0.04], and women with haplotypes, including variant alleles of rs1271572, rs1256030, and rs1256031 SNPs [OR = 1.75, CI: 1.17-2.63, p global = 0.007], had significantly increased risk of ovarian carcinoma. 18704709 2009
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.020 GeneticVariation BEFREE The rs1271572 SNP T variant was associated with increased risk of MI in a Spanish population, and this association was found to be limited to men only. 18487282 2008
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.020 GeneticVariation BEFREE In conditional logistic multivariate regression, the rs1271572 variant was associated with increased odds of CVD [odds ratio (OR) = 1.49, 95% CI: 1.10-2.01] and MI (OR = 1.46, 95% CI: 0.96-2.23), whereas the rs1256049 variant was associated with decreased odds of CVD (OR = 0.37, 95% CI: 0.17-0.79) and MI (OR = 0.25, 95% CI: 0.09-0.73) in women. 17702854 2007
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
0.010 GeneticVariation BEFREE Women carrying a T allele at the rs1271572 locus of the ESR2 gene demonstrated an even higher risk (OR: 3.23, 95% CI: 1.55-6.73, P = 0.0019, TS vs. MI + CTRL; OR: 9.13, 95% CI: 2.78-29.9, P = 0.0001, TS vs. MI alone). 28118181 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.010 GeneticVariation BEFREE TT genotype of rs1271572 is associated with increased risk for breast cancer in Chinese women and is associated with unfavored prognosis in Chinese breast cancer patients. 23711151 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE TT genotype of rs1271572 is associated with increased risk for breast cancer in Chinese women and is associated with unfavored prognosis in Chinese breast cancer patients. 23711151 2013
Metastatic malignant neoplasm to brain
0.010 GeneticVariation BEFREE Breast cancer patients with the TT genotype of rs1271572 had lower five-year survival rates than those with other genotypes and were more likely to suffer brain metastases. 23711151 2013
Obesity
CUI: C0028754
Disease: Obesity
0.010 GeneticVariation BEFREE The relationship of three polymorphisms (rs1271572, rs1256049 and rs4986938) and their associated haplotypes in the ESR2 gene with obesity and overweight were evaluated in 561 apparently healthy women (median age 63 years) from the Women's Health Study. 19111408 2009
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.010 GeneticVariation BEFREE In conditional logistic multivariate regression, the rs1271572 variant was associated with increased odds of CVD [odds ratio (OR) = 1.49, 95% CI: 1.10-2.01] and MI (OR = 1.46, 95% CI: 0.96-2.23), whereas the rs1256049 variant was associated with decreased odds of CVD (OR = 0.37, 95% CI: 0.17-0.79) and MI (OR = 0.25, 95% CI: 0.09-0.73) in women. 17702854 2007
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
0.010 GeneticVariation BEFREE Four haplotype-tagging single nucleotide polymorphisms (rs2987983, rs1887994, rs1256040, and rs1256062), the (CA)n polymorphism, and two additional promoter single nucleotide polymorphisms (rs10483774 and rs1271572), mapping to a transcription factor binding region, were typed and analyzed in a Swedish cohort of 354 boys with nonsyndromic hypospadias and 380 healthy controls. 17579196 2007
Hypospadias
CUI: C0848558
Disease: Hypospadias
0.010 GeneticVariation BEFREE Four haplotype-tagging single nucleotide polymorphisms (rs2987983, rs1887994, rs1256040, and rs1256062), the (CA)n polymorphism, and two additional promoter single nucleotide polymorphisms (rs10483774 and rs1271572), mapping to a transcription factor binding region, were typed and analyzed in a Swedish cohort of 354 boys with nonsyndromic hypospadias and 380 healthy controls. 17579196 2007
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.010 GeneticVariation BEFREE Women, but not men, who developed CVD or MI, but not ischemic stroke, were more likely to have the rs1271572 polymorphism variant T allele (P = 0.05 and 0.02) and less likely to have the rs1256049 polymorphism variant A allele (P = 0.003 and 0.004). 17702854 2007
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE After adjusting for potential confounders, we observed no association between ESR2 gene polymorphisms and endometrial cancer risk [rs1256049 (OR = 1.2; 95%CI: 0.7-2.3), rs1271572 (OR = 0.8; 95%CI: 0.5-1.1) and CA repeat (22 repeat allele versus > or = 22 repeat allele, OR = 1.1; 95%CI: 0.7-1.7)]. 15280642 2004
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.010 GeneticVariation BEFREE After adjusting for potential confounders, we observed no association between ESR2 gene polymorphisms and endometrial cancer risk [rs1256049 (OR = 1.2; 95%CI: 0.7-2.3), rs1271572 (OR = 0.8; 95%CI: 0.5-1.1) and CA repeat (22 repeat allele versus > or = 22 repeat allele, OR = 1.1; 95%CI: 0.7-1.7)]. 15280642 2004