rs13278062

This is a coding sequence variant variant in the TNFRSF10A gene.

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GWAS Catalog Trait Associations (4)

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

age-related macular degeneration

Fritsche LG et al. “Seven new loci associated with age-related macular degeneration.” Nature Genetics 45(4):433-9, 439e1-2 (2013)
Allele T
OR 1.15
p 3.0e-15
N 59,494
Large GWAS
multi-ancestry
Winkler TW et al. “Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease.” Bmc Medical Genomics 13(1):120 (2020)
Allele T
OR 1.08
p 2.0e-8
N 105,248
Meta-analysisLarge GWAS
European
Arakawa S et al. “Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.” Nature Genetics 43(10):1001-4 (2011)
Allele T
OR 1.37
p 1.0e-12
N 4,150
Large GWAS
East Asian

protein measurement

Hartley AE et al. “Deciphering tissue-specific protein regulation for insights into cardiometabolic disease.” Molecular Metabolism 104:102314 (2026)
Allele T
OR —
p 3.0e-14
N 272
Small GWAS
European

central serous retinopathy

Hosoda Y et al. “Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy.” Communications Biology 2:468 (2019)
Allele T
OR 1.35
p 1.0e-13
N 3,460
Large GWAS
multi-ancestry

wet macular degeneration

Fan Q et al. “Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes.” Nature Communications 14(1):5574 (2023)
Allele T
OR 1.23
p 4.0e-8
N 8,621
Large GWAS
East Asian
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ClinVar annotation

not_provided
1 submitter
View on ClinVar →
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Research that mentions this SNP (1)

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DR4 mediates the progression, invasion, metastasis and survival of colorectal cancer through the Sp1/NF1 switch axis on genomic locus
AssociationN=2,253Shenshen Wu et al.(2018)· International Journal of Cancer

A case-control study of 1,078 colorectal cancer patients and 1,175 controls found that the DR4 rs13278062 GT/TT genotype was associated with significantly decreased colorectal cancer risk (adjusted OR=0.79, 95% CI=0.67-0.94) and increased survival time (adjusted HR=0.82, 95% CI=0.70-0.96) compared to the GG genotype. Functional studies using CRISPR/Cas9 editing demonstrated that the G>T mutation increased DR4 expression through altered Sp1/NF1 transcription factor binding, promoting apoptosis and inhibiting cancer cell proliferation, migration, and metastasis in vitro and in mouse models.

Traits studied:Colorectal cancerColorectal cancer survival
PubMedDOIMetascience Observatory

About TNFRSF10A

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. [provided by RefSeq, Jul 2008]

View all TNFRSF10A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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