rs4148155

This is a intron variant variant in the ABCG2 gene.

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GWAS Catalog Trait Associations (17)

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

urate measurement

Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)

Allele A

OR 0.14

p 1.0e-288

N 219,768

Meta-analysisLarge GWAS

East Asian

Boocock J et al. “Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control.” Human Molecular Genetics 29(6):923-943 (2020)

Allele A

OR 0.23

p 2.0e-135

N 131,709

Large GWAS

multi-ancestry

Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)

Allele A

OR 0.12

p 1.0e-13

N 8,868

Large GWAS

East Asian

Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)

Allele A

OR 0.16

p 1.0e-13

N 8,809

Large GWAS

European

Chittoor G et al. “Fine mapping and identification of serum urate loci in American Indians: The Strong Heart Family Study.” Scientific Reports 9(1):17899 (2019)

Allele A

OR 5.98

p 2.0e-9

N 2,000

Large GWAS

Native American

uric acid measurement

Nakatochi M et al. “Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.” Communications Biology 2:115 (2019)

Allele A

OR 0.12

p 2.0e-149

N 121,745

Meta-analysisLarge GWAS

multi-ancestry

Flanagan J et al. “Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population.” Communications Biology 7(1):1665 (2024)

Allele A

OR 0.11

p 2.0e-122

N 181,927

Large GWAS

East Asian

gout

Nakayama A et al. “Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients.” Annals of the Rheumatic Diseases 79(5):657-665 (2020)

Allele G

OR 2.23

p 2.0e-101

N 7,607

Large GWAS

East Asian

Lee MG et al. “Integrative Genome-Wide Association Studies of eQTL and GWAS Data for Gout Disease Susceptibility.” Scientific Reports 9(1):4981 (2019)

Allele G

OR 2.00

p 4.0e-35

N 7,094

Large GWAS

East Asian

Jing J et al. “Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease.” Scientific Reports 8(1):13184 (2018)

Allele G

OR 1.55

p 5.0e-9

N 4,941

Large GWAS

European

X-18901 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 A

OR 0.16

p 1.0e-21

N 14,296

Large GWAS

European

X-21358 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 A

OR 0.15

p 4.0e-19

N 14,296

Large GWAS

European

amount of iron in brain

Casanova F et al. “MRI-derived brain iron, grey matter volume, and risk of dementia and Parkinson's disease: Observational and genetic analysis in the UK Biobank cohort.” Neurobiology of Disease 197:106539 (2024)

Allele A

OR 0.09

p 1.0e-18

N 39,533

Major Consortium StudyLarge GWAS

European

3,5-dichloro-2,6-dihydroxybenzoic acid measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)

Allele G

OR 0.39

p 1.0e-17

N 2,430

Large GWAS

multi-ancestry

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 G

OR 0.21

p 1.0e-11

N 4,545

Large GWAS

European

nephrolithiasis

Cao X et al. “Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.” Nature Communications 16(1):3473 (2025)

Allele A

OR 0.91

p 4.0e-17

N 975,370

Large GWAS

multi-ancestry

body mass index

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)

Allele A

OR 0.02

p 8.0e-14

N 694,649

Large GWAS

European

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)

Allele A

OR 0.02

p 9.0e-14

N 1,122,049

Large GWAS

European

Sidorenko J et al. “Genetic architecture reconciles linkage and association studies of complex traits.” Nature Genetics 56(11):2352-2360 (2024)

Allele A

OR 0.02

p 2.0e-11

N 650,000

Large GWAS

European

Hawkes G et al. “Genetic evidence that high BMI in childhood has a protective effect on intermediate diabetes traits, including measures of insulin sensitivity and secretion, after accounting for BMI in adulthood.” Diabetologia 66(8):1472-1480 (2023)

Allele A

OR 0.02

p 7.0e-12

N 441,761

Large GWAS

European

reticulocyte amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.02

p 8.0e-13

N 394,642

Large GWAS

European

About ABCG2

The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

rs4148155

GWAS Catalog Trait Associations (17)

urate measurement

uric acid measurement

gout

X-18901 measurement

X-21358 measurement

amount of iron in brain

3,5-dichloro-2,6-dihydroxybenzoic acid measurement

nephrolithiasis

body mass index

reticulocyte amount

About ABCG2

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