rs8187710

This is a variant in the ABCC2 gene that changes a cysteine to an tyrosine.

▶

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

X-21467 measurement

Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)

Allele A

OR 0.46

p 1.0e-38

N 8,809

Large GWAS

European

▶

ClinVar annotation

Benign★★★☆

6 submitters4 publications

ABCC2-related disorder; Dubin-Johnson syndrome (DJS)

View on ClinVar →

▶

Research that mentions this SNP (1)

▶

Validation of variants inSLC28A3andUGT1A6as genetic markers predictive of anthracycline‐induced cardiotoxicity in children

ReviewVisscher H. et al.(2013)· Pediatric Blood & Cancer

A Russian-language review examining molecular and genetic aspects of cardiotoxicity from anticancer chemotherapy. The paper discusses genetic polymorphisms in ABC transporters (ABCC1, ABCC2, ABCB1), nucleotide transporters (SLC28A3), and genes involved in oxidative stress (CYBA, RAC2, NCF4, CBR3) that predispose patients to chemotherapy-induced cardiotoxicity. Key findings include rs8187710 in ABCC2 (p=0.0009), rs4673 in CYBA (p=0.04), and rs13058338 in RAC2 (p=0.02) significantly increasing cardiotoxicity risk, while rs1045642 in ABCB1 and rs7853758 in SLC28A3 show cardioprotective properties.

Traits studied:Anthracycline-induced cardiotoxicityCardiotoxicityCardiovascular toxicityChemotherapy-induced cardiotoxicity

PubMed DOI Metascience Observatory

About ABCC2

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]