Variant "ESR2:c.*56G>A"
Search result: 1 record
Variant information
Gene:
ESR2 
Variant:
ESR2:c.*56G>A 
Genomic location:
chr14:64694195(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001291712.1:c.*56G>A
protein_coding NM_001214902.1:c.*413G>A
protein_coding NM_001040275.1:c.*56G>A
protein_coding NM_001291723.1:c.*56G>A
protein_coding NM_182914.2:c.*1951C>T
protein_coding NM_015180.4:c.*1951C>T
protein_coding NM_182913.2:c.*1951C>T
protein_coding NM_182910.2:c.*1951C>T
protein_coding NM_001271876.1:c.*550G>A
pseudogene NR_073496.1:n.2148G>A
show all
dbSNP ID:
rs928554  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Colorectal Cancer (DOID_9256)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=1.48; 95% CI: (1.03–2.13), P=0.032 
    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.