rs11892031

This is a regulatory region variant variant in the UGT1A10 gene.

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GWAS Catalog Trait Associations (1)

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

p-cresol glucuronide measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele C
OR 0.20
p 3.0e-14
N 7,969
Large GWAS
European
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Research that mentions this SNP (3)

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Genetic polymorphisms on 8q24.1 and 4p16.3 are not linked with urothelial carcinoma of the bladder in contrast to their association with aggressive upper urinary tract tumours
AssociationN=492David R. Yates et al.(2013)· World Journal of Urology

This case-control study of 231 bladder urothelial carcinoma (UC) patients and 261 benign controls found that rs9642880[T] and rs798766[T] variants increase bladder-UC risk (OR=1.72, p=0.028 and OR=1.84, p=0.01 respectively), but unlike upper tract UC, these variants are not associated with disease aggressiveness (grade or stage). The findings highlight distinct genetic differences between bladder-UC and upper urinary tract urothelial carcinoma.

Traits studied:Bladder urothelial carcinomaTumor aggressivenessTumor gradeTumor stageUpper urinary tract urothelial carcinoma
PubMedDOIMetascience Observatory
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Rs11892031[A] on chromosome 2q37 in an intronic region of the UGT1A locus is associated with urinary bladder cancer risk
AssociationN=3,946Selinski S. et al.(2012)· Archives of Toxicology

This study confirmed the association of rs11892031[A] in the UGT1A locus with increased urinary bladder cancer risk through analysis of eight case-control series (1,805 cases, 2,141 controls) plus meta-analysis of published data (13,395 cases, 54,876 controls). The combined meta-analysis showed an odds ratio of 1.19 (95% CI = 1.12-1.26, P < 0.0001), with stronger effects in individuals with high occupational exposure to bladder carcinogens.

Traits studied:Bladder cancerUrinary bladder cancer
PubMedDOIMetascience Observatory
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The association between bladder cancer and a single nucleotide polymorphism (rs2854744) in the insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) gene
AssociationN=486Mohammad Reza Safarinejad et al.(2011)· Archives of Toxicology

This Iranian case-control study examined the association between the IGFBP-3 A-202C polymorphism (rs2854744) and bladder cancer risk in 162 cancer patients and 324 controls. The study found that the AA genotype was protective against bladder cancer (OR=0.48, 95% CI 0.24-0.64, P=0.001) while the AC genotype increased risk (OR=1.76, 95% CI 1.27-2.84, P=0.038). The protective effect of the AA genotype was more pronounced in advanced bladder cancers, with no AA genotype carriers having high-grade tumors.

Traits studied:Bladder cancerTransitional cell carcinoma
PubMedDOIMetascience Observatory

About UGT1A10

This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity on mycophenolic acid, coumarins, and quinolines. [provided by RefSeq, Jul 2008]

View all UGT1A10 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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