rs4148325

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

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GWAS Catalog Trait Associations (13)

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

trait in response to antirheumatic drug, bilirubin measurement

Lin N et al. “UGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab.” The Pharmacogenomics Journal 22(3):160-165 (2022)
Allele T
OR 0.28
p 3.0e-41
N 755
Small GWAS
European, Hispanic or Latin American, African unspecified, Asian unspecified, NR

cholelithiasis, Cholecystitis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.13
p 6.0e-41
N 439,813
Major Consortium StudyLarge GWAS
European

xanthurenate measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.15
p 2.0e-37
N 14,296
Large GWAS
European
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.17
p 2.0e-23
N 8,809
Large GWAS
European
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele T
OR 0.16
p 2.0e-22
N 7,965
Large GWAS
European
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 0.15
p 2.0e-18
N 4,897
Large GWAS
European

cholelithiasis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.14
p 5.0e-36
N 439,607
Major Consortium StudyLarge GWAS
European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele T
OR 0.20
p 3.0e-23
N 5,368
Large GWAS
European

biliverdin measurement

Rhee EP et al. “Trans-ethnic genome-wide association study of blood metabolites in the Chronic Renal Insufficiency Cohort (CRIC) study.” Kidney International 101(4):814-823 (2022)
Allele T
OR 0.27
p 6.0e-19
N 822
Small GWAS
European
Liu C et al. “Crosstalk between Host Genome and Metabolome among People with HIV in South Africa.” Metabolites 12(7) (2022)
Allele T
OR 0.38
p 2.0e-8
N 998
Small GWAS
Sub-Saharan African

gallstones

Fairfield CJ et al. “Genome-wide analysis identifies gallstone-susceptibility loci including genes regulating gastrointestinal motility.” Hepatology (baltimore, Md.) 75(5):1081-1094 (2022)
Allele T
OR 1.07
p 2.0e-18
N 550,437
Large GWAS
European

total cholesterol measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.02
p 6.0e-18
N 570,819
Major Consortium StudyLarge GWAS
multi-ancestry

histidine betaine (hercynine) 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 T
OR 0.11
p 4.0e-11
N 7,518
Large GWAS
European

trait in response to atorvastatin

Mykkänen AJH et al. “Genome-Wide Association Study of Atorvastatin Pharmacokinetics: Associations With SLCO1B1, UGT1A3, and LPP.” Clinical Pharmacology and Therapeutics 115(6):1428-1440 (2024)
Allele T
OR 0.31
p 4.0e-8
N 158
Small GWAS
European
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Research that mentions this SNP (1)

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A Genome‐Wide Association Study for Serum Bilirubin Levels and Gene‐Environment Interaction in a Chinese Population
AssociationN=3,294Xiayun Dai et al.(2013)· Genetic Epidemiology

GWAS study of 3,294 European ancestry individuals from the eMERGE Network examining serum bilirubin and other liver function tests. Strong association signal at UGT1A1 locus (rs887829, beta=0.15, p=1.30×10^-118) confirmed in both adult and pediatric populations. Additional associations identified in SLCO1B1, SLCO1B3, TDRP, ZMYND8, and ABO locus. Phenome-wide analysis revealed protective effect of TA7 repeat against cerebrovascular disease (OR=0.75, p=0.0008).

Traits studied:ALTASTAlkaline phosphataseCerebrovascular diseaseGGTLiver function testsSerum bilirubin levels
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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