rs4771436
This is a intron variant variant in the ERCC5 gene.
▶Research that mentions this SNP (1)
▶Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African AmericansAssociationN=947Jeffrey S. Chang et al.(2008)· International Journal of Cancer
A case-control study of nucleotide excision repair (NER) pathway genes and lung cancer risk among 113 Latino cases, 255 African American cases, and 579 controls from the San Francisco Bay Area (1998-2003). Among Latinos, ERCC2 haplotype CGA (rs238406, rs11878644, rs6966) showed reduced lung cancer risk (OR=0.65, 95% CI: 0.44-0.97). Among African Americans, ERCC5 rs17655 His/His genotype increased lung cancer risk (OR=1.78, 95% CI: 1.09-2.91), while LIG1 haplotype GGGAA reduced risk (OR=0.61, 95% CI: 0.42-0.88). Multifactor dimensionality reduction identified a 4-factor model including rs171140, rs17655, and rs20581 with 67.4% prediction accuracy for lung cancer (p=0.001) in Latinos.
About ERCC5
This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
View all ERCC5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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