rs7086803

This is a intron variant variant in the VTI1A gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

lung carcinoma

Lan Q et al. “Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.” Nature Genetics 44(12):1330-5 (2012)
Allele A
OR 1.28
p 4.0e-18
N 10,054
Large GWAS
East Asian

lung adenocarcinoma

Qin N et al. “Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma.” Frontiers of Medicine 15(2):275-291 (2021)
Allele A
OR 1.17
p 3.0e-13
N 42,936
Large GWAS
East Asian, European
Dai J et al. “Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.” The Lancet. Respiratory Medicine 7(10):881-891 (2019)
Allele A
OR 1.18
p 1.0e-12
N 42,936
Large GWAS
multi-ancestry

non-small cell lung carcinoma

Dai J et al. “Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.” The Lancet. Respiratory Medicine 7(10):881-891 (2019)
Allele A
OR 1.14
p 3.0e-10
N 54,475
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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FunctionalFEN1polymorphisms are associated with DNA damage levels and lung cancer risk
AssociationN=288Ming Yang et al.(2009)· Human Mutation

This cross-sectional study of 288 coke oven workers examined gene-environment interactions between FEN1 rs174538 polymorphism and polycyclic aromatic hydrocarbon (PAH) exposure, measured by urinary 1-OH-pyrene levels, on DNA damage in EGFR gene exons 19 and 21. The study found significant linear associations between PAH exposure and EGFR exon damage (P trend < 0.001 for both exons), which were modified by FEN1 rs174538 genotype—the associations were significant only in GA+AA carriers (P < 0.001) but not in GG carriers, suggesting genetic susceptibility influences PAH-induced DNA damage.

Traits studied:DNA damage (BRCA1 exon 20 damage index)DNA damage (EGFR exon 19 damage index)DNA damage (EGFR exon 21 damage index)Lung cancer riskPolycyclic aromatic hydrocarbon (PAH) exposure
PubMedDOIMetascience Observatory

About VTI1A

The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

View all VTI1A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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