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rs717620

Chromosome : 10 , Position: 99782821

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: C

Alternative Alleles: T

Associated Genes

COX15

ABCC2

CWF19L1

SLC25A28

ENTPD7

CUTC

DNMBP

NKX2-3

CPN1

GOT1

ERLIN1

CHUK

CNNM1

Summary

[PMID 21451505] Effect of ABCC2 (MRP2) Transport Function on Erythromycin Metabolism

[PMID 22630058] ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients

[PMID 17997497] Association of the multidrug-resistance-associated protein gene (ABCC2) variants with intrahepatic cholestasis of pregnancy.

[PMID 18926681] Polymorphisms of MRP2 (ABCC2) are associated with susceptibility to nonalcoholic fatty liver disease.

[PMID 19568750] MRP2 and GSTP1 polymorphisms and chemotherapy response in advanced non-small cell lung cancer.

[PMID 20061166] Genetic polymorphisms influence mycophenolate mofetil-related adverse events in pediatric heart transplant patients.

[PMID 20139798] ADME pharmacogenetics: investigation of the pharmacokinetics of the antiretroviral agent lopinavir coformulated with ritonavir.

[PMID 22318656] Interindividual variability in hepatic expression of the multidrug resistance-associated protein 2 (MRP2/ABCC2): quantification by liquid chromatography/tandem mass spectrometry.

[PMID 22473764] A comprehensive study of polymorphisms in ABCB1, ABCC2 and ABCG2 and lung cancer chemotherapy response and prognosis.

[PMID 23506516] A systematic review and meta-analysis of the role of ABCC2 variants on drug response in patients with epilepsy

[PMID 22868256] A prospective validation pharmacogenomic study in the adjuvant setting of colorectal cancer patients treated with the 5-fluorouracil/leucovorin/oxaliplatin (FOLFOX4) regimen.

[PMID 23069858] Impact of ABCC2 polymorphisms on high-dose methotrexate pharmacokinetics in patients with lymphoid malignancy.

[PMID 24782687] Multi-institutional Study of Outcomes After Pediatric Heart Transplantation: Candidate Gene Polymorphism Analysis of ABCC2

[PMID 25007187] Genetic polymorphisms in candidate genes predict increased toxicity with methotrexate therapy in Lebanese children with acute lymphoblastic leukemia

[PMID 26107220] Quantitative Assessment of the Association between ABC Polymorphisms and Osteosarcoma Response: a Meta-analysis

[PMID 26189305] ABCB1, ABCC2, SCN1A, SCN2A, GABRA1 gene polymorphisms and drug resistant epilepsy in the Chinese Han population

[PMID 26807589] A Single-Nucleotide Polymorphism in ABCC4 Is Associated with Tenofovir-Related Beta2-Microglobulinuria in Thai Patients with HIV-1 Infection.

More Information

Mechanism:

The SNP is located within the promoter of ABCC2.

The T (minor) allele is associated with:

Poorer response to chemotherapy in small cell lung carcinoma patients (R).
Shorter progression-free survival and overall survival in patients with small cell lung carcinoma (R).
Increased risk of severe neurotoxicity in response to FOLFOX4, which is a chemotherapy agent (R).
Reduced tissue rejection in pediatric heart transplant patients (R).
Increased mercury levels in the urine of AA individuals exposed to mercury (R).
Increased gastrointestinal toxicity to the drug pemetrexed in patients being treated for malignant pleural mesothelioma (MPM) (R).
Increased time for the body to reach non-toxic blood levels of methotrexate (MTX) after MTX treatment in patients with acute lymphoblastic leukemia (ALL) (R). This may mean that recessive allele carriers metabolize MTX more slowly.
Higher levels of MTX in the blood, which leads to toxicity issues such as gastrointestinal problems, mucosal damage, and anemia (R).
Decreased glomerular filtration rates in the kidneys of patients being treated for HIV with highly active antiretroviral therapy (HAART) (R). This is a predictor of chronic kidney disease.
Increased concentrations of mercury in maternal hair of pregnant females (R). This may cause the fetus to be overexposed to mercury, causing developmental problems.

Population Alleles Frequency

ethhicity	frequency
African/African-American	0.0616
Latino/Admixed American	0.1309
Ashkenazi Jewish	0.2207
East Asian	0.2009
European	0.2009
Other (population not assigned)	0.1777

Frequently Asked Questions

Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation Why Are Alleles for This SNP Different Elsewhere?

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rs717620

Associated Genes

Summary

More Information

Population Alleles Frequency

Frequently Asked Questions

Unlock Personalized Results And So Much More!

Essential Bundle

Essential

Bundle

Ultimate Bundle

Limited Time Offer 25% Off

Individual DNA Reports

Methylation Pathway - MTHFR Test

Histamine Intolerance DNA Pathway Report

Gut Health, Digestion & IBS DNA Report

Autoimmune Disease Risk & Prevention DNA Report

See all reports

Policies

About

Navigation

Health reports