rs3738414
This variant is located in the VTCN1 gene.
▶Research that mentions this SNP (1)
▶Identification of novel germline polymorphisms governing capecitabine sensitivityAssociationN=503O'Donnell PH et al.(2012)· Cancer
A genome-wide association study of capecitabine sensitivity in 503 HapMap lymphoblastoid cell lines identified novel germline variants associated with capecitabine/5-FU susceptibility. Key findings include rs4702484 (P=5.2×10⁻⁸) in ADCY2 near MTRR, and rs11722476 (P=6.7×10⁻⁵), a missense variant in SMARCAD1 (Ser158Asn). Meta-analysis across six global populations identified four SNPs approaching genome-wide significance (P=1.9×10⁻⁷–8.8×10⁻⁷), with rs8101143 (P=1.9×10⁻⁷), rs576523 (P=2.3×10⁻⁷), and rs361433 also among top hits.
About VTCN1
This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
View all VTCN1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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