rs3798577, ESR1

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.060 GeneticVariation BEFREE Patients carrying rs3798577 genotypes had higher risk, while rs1256049 genotype carriers had reduced risk of breast cancer. 29414691 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE Patients carrying rs3798577 genotypes had higher risk, while rs1256049 genotype carriers had reduced risk of breast cancer. 29414691 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE The C allele of the rs3798577:T>C variant was associated with decreased BC risk in Asians (OR = 0.828, 95% CI: 0.730-0.939), while Caucasians with this allele were found to experience significantly increased BC risk (OR = 1.551, 95% CI: 1.037-2.321). 27070141 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.060 GeneticVariation BEFREE Polymorphisms in ESR1 (rs3798577) and IL6 (rs1800795 and rs1800797) were evaluated by real-time PCR in 391 breast cancer patients and 79 healthy controls. 27356714 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE Polymorphisms in ESR1 (rs3798577) and IL6 (rs1800795 and rs1800797) were evaluated by real-time PCR in 391 breast cancer patients and 79 healthy controls. 27356714 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.060 GeneticVariation BEFREE The C allele of the rs3798577:T>C variant was associated with decreased BC risk in Asians (OR = 0.828, 95% CI: 0.730-0.939), while Caucasians with this allele were found to experience significantly increased BC risk (OR = 1.551, 95% CI: 1.037-2.321). 27070141 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE The genotypes CC and CT of rs3798577 were significantly associated with the cancers risk (p-trend breast = 4 × 10(-5); p-trend cancers = 1 × 10(-5)); in discrepancy with breast cancer where the C-allele represented the risk allele, for bladder, hepatocellular carcinomas and leukemia, the T allele seems to confer susceptibility. 20383761 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.060 GeneticVariation BEFREE The genotypes CC and CT of rs3798577 were significantly associated with the cancers risk (p-trend breast = 4 × 10(-5); p-trend cancers = 1 × 10(-5)); in discrepancy with breast cancer where the C-allele represented the risk allele, for bladder, hepatocellular carcinomas and leukemia, the T allele seems to confer susceptibility. 20383761 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE Our results showed that rs3798577 was significantly associated with the risk of breast cancer, the common allele C conferring susceptibility (p-trend=4 x 10(-5)); rs3798577 was also correlated with PR expression (p=0.01), but not with ER expression; rs2228480 (p=0.047) and rs1801132 (p=0.02) were associated with the age at diagnosis; rs1801132 was correlated with hypercholesterolemia (p=0.003) and increased BMI (body mass index) (p=0.01); rs2234693 showed a low significant association (p=0.042) with the tumor grade; rs3798577 was correlated with disease-free survival (p=0.05), allele C conferring increased risk for relapses, but it reached not statistical significance after adjustments. 20429621 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.060 GeneticVariation BEFREE Our results showed that rs3798577 was significantly associated with the risk of breast cancer, the common allele C conferring susceptibility (p-trend=4 x 10(-5)); rs3798577 was also correlated with PR expression (p=0.01), but not with ER expression; rs2228480 (p=0.047) and rs1801132 (p=0.02) were associated with the age at diagnosis; rs1801132 was correlated with hypercholesterolemia (p=0.003) and increased BMI (body mass index) (p=0.01); rs2234693 showed a low significant association (p=0.042) with the tumor grade; rs3798577 was correlated with disease-free survival (p=0.05), allele C conferring increased risk for relapses, but it reached not statistical significance after adjustments. 20429621 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE This study provides evidence that polymorphisms CYP17 rs743572, CYP19 rs10046 and ER-alpha rs3798577 are associated with breast cancer risk among Chinese women. 18629629 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.060 GeneticVariation BEFREE This study provides evidence that polymorphisms CYP17 rs743572, CYP19 rs10046 and ER-alpha rs3798577 are associated with breast cancer risk among Chinese women. 18629629 2009
Eating Disorders
CUI: C0013473
Disease: Eating Disorders
0.020 GeneticVariation BEFREE An eight-SNP haplotype at the estrogen receptor I (ESR1) gene was found to be associated with anorexia nervosa (AN) (Versini et al., Neuropsychopharmacology, 35, 1818-1825, 2010) and three SNPs from this haplotype (rs726281, rs2295193, and rs3798577) were associated with AN and/or EDs. 24282178 2014
Eating Disorders
CUI: C0013473
Disease: Eating Disorders
0.020 GeneticVariation BEFREE Finally, rs3798577 was associated with eating disorders in a population-based sample of 693 women (p<0.01). 20375995 2010
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.010 GeneticVariation BEFREE However the ESR1 rs3798577 CT genotype was associated with presence of lymphovascular invasion (OR=2.07, 95%CI 1.20-3.56, p=0.009) when compared to the TT genotype. 27356714 2016
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.010 GeneticVariation BEFREE The present study suggests that rs2077647 polymorphism may be a risk factor for prostate cancer especially in patients diagnosed before the age of 60, while rs3798577 polymorphism could probably serve rather as promoting factor in combination with other polymorphisms in estrogen receptor alpha contributing preferably to development of high-grade carcinomas. 25828708 2015
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.010 GeneticVariation BEFREE The present study suggests that rs2077647 polymorphism may be a risk factor for prostate cancer especially in patients diagnosed before the age of 60, while rs3798577 polymorphism could probably serve rather as promoting factor in combination with other polymorphisms in estrogen receptor alpha contributing preferably to development of high-grade carcinomas. 25828708 2015
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE The present study suggests that rs2077647 polymorphism may be a risk factor for prostate cancer especially in patients diagnosed before the age of 60, while rs3798577 polymorphism could probably serve rather as promoting factor in combination with other polymorphisms in estrogen receptor alpha contributing preferably to development of high-grade carcinomas. 25828708 2015
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.010 GeneticVariation BEFREE Haplotypes TGC of ESR1 rs2234693, rs2228480, and rs3798577 were risk factors for having PBC. 26608979 2015
Anorexia Nervosa
CUI: C0003125
Disease: Anorexia Nervosa
0.010 GeneticVariation BEFREE An eight-SNP haplotype at the estrogen receptor I (ESR1) gene was found to be associated with anorexia nervosa (AN) (Versini et al., Neuropsychopharmacology, 35, 1818-1825, 2010) and three SNPs from this haplotype (rs726281, rs2295193, and rs3798577) were associated with AN and/or EDs. 24282178 2014
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
0.010 GeneticVariation BEFREE Our results showed that rs3798577 was significantly associated with the risk of breast cancer, the common allele C conferring susceptibility (p-trend=4 x 10(-5)); rs3798577 was also correlated with PR expression (p=0.01), but not with ER expression; rs2228480 (p=0.047) and rs1801132 (p=0.02) were associated with the age at diagnosis; rs1801132 was correlated with hypercholesterolemia (p=0.003) and increased BMI (body mass index) (p=0.01); rs2234693 showed a low significant association (p=0.042) with the tumor grade; rs3798577 was correlated with disease-free survival (p=0.05), allele C conferring increased risk for relapses, but it reached not statistical significance after adjustments. 20429621 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE Our results showed that rs3798577 was significantly associated with the risk of breast cancer, the common allele C conferring susceptibility (p-trend=4 x 10(-5)); rs3798577 was also correlated with PR expression (p=0.01), but not with ER expression; rs2228480 (p=0.047) and rs1801132 (p=0.02) were associated with the age at diagnosis; rs1801132 was correlated with hypercholesterolemia (p=0.003) and increased BMI (body mass index) (p=0.01); rs2234693 showed a low significant association (p=0.042) with the tumor grade; rs3798577 was correlated with disease-free survival (p=0.05), allele C conferring increased risk for relapses, but it reached not statistical significance after adjustments. 20429621 2010
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.010 GeneticVariation BEFREE The genotypes CC and CT of rs3798577 were significantly associated with the cancers risk (p-trend breast = 4 × 10(-5); p-trend cancers = 1 × 10(-5)); in discrepancy with breast cancer where the C-allele represented the risk allele, for bladder, hepatocellular carcinomas and leukemia, the T allele seems to confer susceptibility. 20383761 2010
leukemia
CUI: C0023418
Disease: leukemia
0.010 GeneticVariation BEFREE The genotypes CC and CT of rs3798577 were significantly associated with the cancers risk (p-trend breast = 4 × 10(-5); p-trend cancers = 1 × 10(-5)); in discrepancy with breast cancer where the C-allele represented the risk allele, for bladder, hepatocellular carcinomas and leukemia, the T allele seems to confer susceptibility. 20383761 2010
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.010 GeneticVariation BEFREE The observed increased risk of PD among female but not male carriers of the rs762551 polymorphism of CYP1A2 and the interactions of caffeine with ESR1 rs3798577 and ESR2 rs1255998 may provide clues to explain the relationship between gender, caffeine intake, estrogen status and risk of PD and need to be replicated. 20304699 2010