rs11196172

This variant is located in the TCF7L2 gene.

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GWAS Catalog Trait Associations (1)

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

colorectal cancer

Fernandez-Rozadilla C et al. “Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries.” Nature Genetics 55(1):89-99 (2023)
Allele A
OR 0.08
p 7.0e-20
N 254,791
Large GWAS
multi-ancestry
Sato G et al. “Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis.” Nature Communications 14(1):3671 (2023)
Allele A
OR 1.12
p 8.0e-9
N 156,537
Large GWAS
East Asian
Lu Y et al. “Identification of Novel Loci and New Risk Variant in Known Loci for Colorectal Cancer Risk in East Asians.” Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 29(2):477-486 (2020)
Allele A
OR 1.12
p 2.0e-15
N 72,272
Large GWAS
multi-ancestry
Lu Y et al. “Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.” Gastroenterology 156(5):1455-1466 (2019)
Allele A
OR 1.12
p 3.0e-15
N 70,506
Large GWAS
East Asian
Tanikawa C et al. “GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.” Carcinogenesis 39(5):652-660 (2018)
Allele A
OR 1.15
p 4.0e-10
N 33,870
Large GWAS
East Asian
Zeng C et al. “Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.” Gastroenterology 150(7):1633-1645 (2016)
Allele A
OR 1.14
p 1.0e-12
N 21,096
Large GWAS
East Asian
Zhang B et al. “Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.” Nature Genetics 46(6):533-42 (2014)
Allele A
OR 1.14
p 1.0e-12
N 8,270
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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The more from East-Asian, the better: risk prediction of colorectal cancer risk by GWAS-identified SNPs among Japanese
AssociationN=2,768Makiko Abe et al.(2017)· Journal of Cancer Research and Clinical Oncology

This case-control study in Japanese population evaluated CRC risk prediction models using SNPs identified in European and East Asian GWAS. An 11-SNP model combining 6 European-identified SNPs (rs6983267, rs4779584, rs4444235, rs9929218, rs10936599, rs16969681) with 5 East Asian-identified SNPs (rs704017, rs11196172, rs10774214, rs647161, rs2423279) showed significantly improved discrimination capacity compared to a 6-SNP model alone (derivation AUC 0.6392 vs 0.6125, P=0.0039; replication AUC 0.5695 vs 0.5310, P=0.0018), with cumulative risk at age 80 estimated at 13% in high-risk versus 6% in low-risk genetic groups.

Traits studied:Colorectal cancer
PubMedDOIMetascience Observatory

About TCF7L2

This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]

View all TCF7L2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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