Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Interethnic variability of ERCC2 polymorphisms.

C R King1, J Yu, R R Freimuth

  • 1Department of Medicine, Division of Oncology, Washington University School of Medicine, Saint Louis, MO 63110, USA.

The Pharmacogenomics Journal
|November 10, 2004
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Gene expression and linkage analysis implicate CBLB as a mediator of rituximab resistance.

The pharmacogenomics journal·2017
Same author

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP2C19 and Voriconazole Therapy.

Clinical pharmacology and therapeutics·2016
Same author

Principles and Techniques of Expert Laparoscopic Surgical Dissection.

Journal of minimally invasive gynecology·2016
Same author

Budget Impact Analysis of CYP2C19 Genotyping to Target Voriconazole Prophylaxis During Induction-Consolidation Therapy in Acute Myeloid Leukemia (AML) in The United States.

Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research·2016
Same author

Integrated patient and tumor genetic testing for individualized cancer therapy.

Clinical pharmacology and therapeutics·2015
Same author

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.

Clinical pharmacology and therapeutics·2015
Same journal

Toxicity related to immunotherapy in urothelial cancer: Tumour genetic risk variants.

The pharmacogenomics journal·2026
Same journal

Beyond the 'Pregnancy Black Box': a global roadmap for artificial intelligence-driven pharmacogenomics in maternal-neonatal health.

The pharmacogenomics journal·2026
Same journal

The association of ABCB1, CYP2C19 and CYP2C9 combined activity with clopidogrel resistance in patients with recurrent ischemic stroke.

The pharmacogenomics journal·2026
Same journal

Development and validation of an open data model for pharmacogenetics to enable semantic interoperability in clinical practice.

The pharmacogenomics journal·2026
Same journal

Finasteride, pharmacogenomics, and suicide risk: a public health concern.

The pharmacogenomics journal·2026
Same journal

Cost-effectiveness of genome-guided statin treatment for hypercholesterolemia.

The pharmacogenomics journal·2026
See all related articles

Polymorphisms in the Excision Repair Cross-Complementing Group 2 (ERCC2) gene, crucial for DNA repair, show varied frequencies across European, African, and Asian populations. These genetic variations impact haplotype structures, influencing cancer risk and platinum therapy response.

Area of Science:

  • Genetics
  • Molecular Biology
  • Pharmacogenomics

Background:

  • The ERCC2 gene is vital for DNA repair, particularly removing platinum-induced DNA adducts via nucleotide excision repair.
  • ERCC2 polymorphisms have been linked to lung cancer risk, DNA repair efficiency, and patient response to platinum-based chemotherapy.

Purpose of the Study:

  • To investigate ERCC2 gene polymorphisms and haplotype structures in diverse ethnic groups.
  • To establish a comprehensive genomic map of ERCC2 variations for future clinical studies.

Main Methods:

  • Genotyping of specific ERCC2 single-nucleotide polymorphisms (SNPs) including -9164 A>T, -1989 A>G, -516 G>A, 468 C>A, 1737 C>T, 2133 C>T, and 2251 T>G.
  • Analysis of ERCC2 haplotype structure across 18.9 kb in 95 individuals each from European, African, and Asian populations.

Related Experiment Videos

  • Utilizing Golden Path, PolyMAPr, and Promolign for SNP mining and mapping, with PCR and pyrosequencing for genotyping.

    • Main Results:

    • Allele frequencies for ERCC2 SNPs varied significantly across populations, ranging from 0 to 0.47 (Europeans), 0.05 to 0.72 (Africans), and 0 to 0.47 (Asians).
    • A synonymous SNP at codon 579 (Val579Val) was not detected in the studied populations.
    • Significant differences in ERCC2 haplotype structure and frequency were observed between the European, African, and Asian cohorts.

    Conclusions:

    • The study provides detailed information on ERCC2 genomic structure and population-specific allele frequencies.
    • Identified variations in ERCC2 haplotype structure highlight the need for population-specific considerations in genetic association studies.
    • This data is foundational for designing future studies to elucidate the clinical significance of ERCC2 in cancer therapy and risk assessment.