Gene "ESR1"
Found 4 records
Gene information
Gene symbol:
ESR1
See related:
Ensembl: ENSG00000091831, Gene ID: 2099
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
4 
Disorder:
3 
Vriant:
4 
Reference:
3 
Effect type:
Expressivity(4)  
Modifier effect:
Risk factor(3) ,Altered severity(1)  
Details：
  • Variant 1:
    ESR1:c.851-13499C>T
    Gene:
    ESR1
    Genomic location:
    chr6:152432902
    dbSNP ID:
    rs910416
    Target disease:
    Colorectal Cancer(DOID_9256)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P interaction=0.03 
    Effect:
    Polymorphisms in genes related to estrogen transport and signaling may modify MHT-associated CRC risk
    Reference:
    PMID21490239
    Title:
    Modification of menopausal hormone therapy-associated colorectal cancer risk by polymorphisms in sex steroid signaling, metabolism and transport related genes.
    Species studied:
    Human
    Abstract:
    The mechanisms underlying the association of menopausal hormone therapy (MHT) with reduced colorectal cancer (CRC) risk are unknown and the identification of genetic modifiers may yield further insight. We explored the effect modification of MHT-associated CRC risk in postmenopausal women by 47 polymorphisms with known or putative functional relevance in 16 candidate genes related to hormone metabolism (COMT, CYP1A1, CYP1A2, CYP1B1, CYP2C9, CYP2C19, CYP3A4, CYP17A1, GSTP, and HSD17B1), transport (ABCB1), and signaling (ESR1, ESR2, SHBG, PGR, and NR1I2). A total of 685 CRC patients and 684 healthy controls from a German population-based case-control study (DACHS) were genotyped. Multiplicative statistical interaction between polymorphisms and ever MHT use as well as duration of use was assessed using multivariate logistic regression. CRC risk associated with ever MHT use as well as with duration was significantly modified by rs1202168 in the transporter gene ABCB1 (P interaction=0.04). The MHT-associated risk reduction was not significant in homozygous non-carriers (odds ratio (OR) ever use=0.84, 95% confidence interval (CI) 0.53-1.34; OR per 5 year duration=0.94, 95% CI 0.83-1.08), while homozygous carriers of the minor T allele had a 57% lower risk with ever use of MHT (95% CI 0.21-0.88) and a 22% lower risk per 5 years of MHT use (95% CI 0.62-0.97). Significant effect modification was also observed for the ESR1_rs910416 polymorphism (P interaction=0.03 for ever use and 0.07 for duration of use), whereby the decreased risk was attenuated in homozygous carriers of the minor C allele (OR ever use=0.87, 95% CI 0.48-1.60, OR per 5 year duration=0.99, 95% CI 0.83-1.18). Results of this exploratory study provide first evidence that polymorphisms in genes related to estrogen transport and signaling may modify MHT-associated CRC risk but warrant replication in an independent population.
  • Variant 2:
    ESR1:c.453-397T>C
    Gene:
    ESR1
    Genomic location:
    chr6:152163335
    dbSNP ID:
    rs2234693
    Target disease:
    Depressivity(HP:0000716)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.61, 95% CI: (0.44–0.84), P=0.003 
    Effect:
    The ER-α rs2234693 and rs9340799 polymorphisms were significantly associated with the risk of late-life depression
    Reference:
    PMID21804148
    Title:
    Oestrogen receptor polymorphisms and late-life depression.
    Species studied:
    Human
    Abstract:
    Evidence suggests a role for oestrogen in depression but the involvement of oestrogen receptor polymorphisms remains unknown.
  • Variant 3:
    ESR1:c.453-351A>G
    Gene:
    ESR1
    Genomic location:
    chr6:152163381
    dbSNP ID:
    rs9340799
    Target disease:
    Depressivity(HP:0000716)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.60, 95% CI: (0.41–0.88), P=0.009 
    Effect:
    The ER-α rs2234693 and rs9340799 polymorphisms were significantly associated with the risk of late-life depression
    Reference:
    PMID21804148
    Title:
    Oestrogen receptor polymorphisms and late-life depression.
    Species studied:
    Human
    Abstract:
    Evidence suggests a role for oestrogen in depression but the involvement of oestrogen receptor polymorphisms remains unknown.
  • Variant 4:
    ESR1:c.1788G>A(p.Thr596Thr)
    Gene:
    ESR1
    Genomic location:
    chr6:152420095
    dbSNP ID:
    rs2228480
    Target disease:
    Sporadic Breast Cancer(DOID_8029)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    OR=2.13; 95% CI: 1.189-3.816 
    Effect:
    The rs2228480 and rs4986938 variants did not alter sporadic BC risk, but they did modulate the BC severity.
    Reference:
    PMID28109853
    Title:
    Variants of estrogen receptor alpha and beta genes modify the severity of sporadic breast cancer.
    Species studied:
    Human
    Abstract:
    Reproductive factors pose a risk for sporadic breast cancer (BC) development owing to the lifetime exposure to estrogen, a hormone responsible for cell proliferation in the breast. Because variants of the estrogen receptor (ER) alpha and beta genes have been associated with BC risk in numerous populations, the objective of the study was to determine whether the risk and severity of sporadic BC was associated with the rs2228480 (ESR1) and rs4986938 (ESR2) variants in a Brazilian population.