rs3212961
This is a intron variant variant in the ERCC1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (3)
▶Polymorphisms in DNA repair pathway genes, body mass index, and risk of non‐Hodgkin lymphomaAssociationN=868Yingtai Chen et al.(2013)· American Journal of Hematology
Population-based case-control study of 601 Connecticut women with non-Hodgkin lymphoma (NHL) and frequency-matched controls examining interactions between DNA repair gene polymorphisms and body mass index. Suggestive gene-BMI interactions were observed for BRCA1 rs799917 (OR=1.7), XRCC1 rs1799782 (OR=1.5), ERCC2 rs13181 (OR=2.0), and other DNA repair genes in modifying NHL risk. After multiple testing correction, significant interactions remained for WRN rs1801195 with T-cell lymphoma (P=0.004) and ERCC2 rs13181 with diffuse large B-cell lymphoma (P=0.002).
▶Hapmap‐based evaluation of ERCC2, PPP1R13L, and ERCC1 and lung cancer risk in a Chinese populationAssociationN=697Jiaoyang Yin et al.(2012)· Environmental and Molecular Mutagenesis
A case-control study of 339 Chinese lung cancer cases and 358 controls evaluated haplotype-tagging SNPs in ERCC2, PPP1R13L, and ERCC1 on chromosome 19q13.3 for association with lung cancer risk. Haplotype analysis revealed significant differential distributions in the region covering ERCC2 and PPP1R13L (P = 8.12e-005) and extending to ERCC1 (P = 4.82e-006). The Block1Hap-2 haplotype CGCC in ERCC2 was associated with increased lung cancer risk (OR 1.26, P = 0.02), while one PPP1R13L htSNP (rs2070830) showed marginal association (OR 1.47, P = 0.04) but was excluded due to Hardy-Weinberg deviation.
▶The importance of a sub-region on chromosome 19q13.3 for prognosis of multiple myeloma patients after high-dose treatment and stem cell support: a linkage disequilibrium mapping in RAI and CD3EAPAssociationN=348Annette J. Vangsted et al.(2011)· Annals of Hematology
A study of 348 multiple myeloma patients examined associations between SNPs in chromosome 19q13.3 (specifically in RAI and CD3EAP genes) and treatment outcomes following high-dose chemotherapy with stem cell support. Polymorphisms RAI-intron1-1 (rs4572514) and CD3EAP G-21A (rs967591) were significantly associated with prolonged time-to-treatment failure (p=0.003) and overall survival (p=0.02). Combination analyses with the NFKB1 promoter polymorphism suggested potential functional effects related to NF-κB pathway involvement.
About ERCC1
The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]
View all ERCC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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