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rs7158782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 2 2x higher risk of adverse side-effect if taking aromatase inhibitor
(G;G) 4 4x higher risk of adverse side-effect if taking aromatase inhibitor
ReferenceGRCh38 38.1/141
Chromosome14
Position95702794
is asnp
is mentioned by
dbSNPrs7158782
ebirs7158782
HLIrs7158782
Exacrs7158782
Varsomers7158782
Maprs7158782
PheGenIrs7158782
hapmaprs7158782
1000 genomesrs7158782
hgdprs7158782
ensemblrs7158782
gopubmedrs7158782
geneviewrs7158782
scholarrs7158782
googlers7158782
pharmgkbrs7158782
gwascentralrs7158782
openSNPrs7158782
23andMers7158782
23andMe allrs7158782
SNP Nexus

SNPshotrs7158782
SNPdbers7158782
MSV3drs7158782
GWAS Ctlgrs7158782
GMAF0.3306
Max Magnitude4
? (A;A) (A;G) (G;G) 28
rs7158782 is one of 4 SNPs found on chromosome 14 near a gene known as T-cell leukemia/lymphoma 1A (TCL1A). This gene appears to be estrogen dependent.

In a study of ~300 patients with early-stage estrogen receptor–positive (ER+) breast cancer who were treated with the aromatase inhibitor (AI) anastrozole or exemestane and who developed musculoskeletal toxicity severe enough to prompt discontinuation, rs7158782(G) allele carriers were at ~2x higher risk for toxicity (CI: 1.5 - 2.9, p < 10e-6). The population attributable risk (i.e., the fraction of such adverse events that could be due to this allele) was estimated to be 11%. 10.1200/JCO.2010.28.5064

An editorial accompanying this article downplays the clinical utility of this finding, since testing for this allele, given its frequency and (mere) doubling of risk, has about equal odds of yielding a true positive and a false positive. 10.1200/JCO.2010.31.2926

GWAS snp
PMID [PMID 20876420OA-icon.png]
Trait
Title Genome-Wide Associations and Functional Genomic Studies of Musculoskeletal Adverse Events in Women Receiving Aromatase Inhibitors
Risk Allele
P-val 8E-7
Odds Ratio 2.13 [1.58-2.87]


[PMID 25035853OA-icon.png] Genotype, allele and haplotype frequencies of four TCL1A gene polymorphisms associated with musculoskeletal toxicity in the South Indian descent