rs2199936

This is a intron variant variant in the ABCG2 gene.

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GWAS Catalog Trait Associations (10)

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

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 0.11
p 1.0e-148
N 210,206
Meta-analysisLarge GWAS
multi-ancestry
Middelberg RP et al. “Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.” Bmc Medical Genetics 12:123 (2011)
Allele A
OR 0.19
p 2.0e-17
N 11,683
Large GWAS
European

urate measurement

Yang Q et al. “Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.” Circulation. Cardiovascular Genetics 3(6):523-30 (2010)
Allele A
OR 18.08
p 1.0e-75
N 28,283
Large GWAS
European
Huffman JE et al. “Modulation of genetic associations with serum urate levels by body-mass-index in humans.” Plos One 10(3):e0119752 (2015)
Allele A
OR 0.32
p 1.0e-22
N 15,282
Large GWAS
European

gout, urate measurement

Yang Q et al. “Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.” Circulation. Cardiovascular Genetics 3(6):523-30 (2010)
Allele A
OR 1.86
p 3.0e-23
N 28,283
Large GWAS
European

brain attribute

Bahrami S et al. “The genetic landscape of basal ganglia and implications for common brain disorders.” Nature Communications 15(1):8476 (2024)
Allele G
OR —
p 4.0e-11
N 34,794
Large GWAS
European

coffee consumption measurement

Zhong VW et al. “A genome-wide association study of bitter and sweet beverage consumption.” Human Molecular Genetics 28(14):2449-2457 (2019)
Allele G
OR 0.02
p 4.0e-11
N 335,909
Large GWAS
European

C-reactive protein measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.02
p 4.0e-10
N 436,491
Large GWAS
multi-ancestry

brain volume

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele G
OR 0.09
p 2.0e-9
N 22,128
Major Consortium StudyLarge GWAS
European

body mass index

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 4.0e-9
N 523,818
Large GWAS
multi-ancestry
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Research that mentions this SNP (3)

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Serum urate gene associations with incident gout, measured in the Framingham Heart Study, are modified by renal disease and not by body mass index
AssociationN=5,097Reynolds RJ et al.(2016)· Rheumatology International

This association study examined eight validated serum urate-associated SNPs and their interactions with BMI and renal disease in predicting incident gout in the Framingham Heart Study. Four SNPs were significantly associated with gout (rs1967017 OR=1.23, rs13129697 OR=1.62, rs2199936 OR=1.63, rs675209 OR=1.20), but BMI-SNP interactions were not significant. Notably, rs1106766 (INHBC) showed a significant renal disease interaction (P=6.12E-03), exhibiting a protective effect only in individuals without renal disease.

Traits studied:GoutHyperuricemiaSerum urate levels
PubMedDOIMetascience Observatory
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Genome‐wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response
AssociationN=2,027Wen CC et al.(2015)· Clinical Pharmacology &amp; Therapeutics

A genome-wide association study of 2,027 subjects from the Kaiser Permanente GERA cohort identified ABCG2 as a key determinant of allopurinol response for treating hyperuricemia/gout. The missense variant rs2231142 (Q141K) was significantly associated with reduced serum uric acid reduction (P = 3 × 10^-7 in meta-analysis, accounting for 1.1% of variance). Functional studies confirmed that BCRP (encoded by ABCG2) transports allopurinol and oxypurinol, and the Q141K variant reduces this transport.

Traits studied:Allopurinol response (serum uric acid reduction)GoutHyperuricemia
PubMedDOIMetascience Observatory
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Genetic variability related to serum uric acid concentration and risk of Parkinson's disease
AssociationN=1,815Isabel González‐Aramburu et al.(2013)· Movement Disorders

This study analyzed 9 uric acid-regulating SNPs and 5 progranulin-regulating SNPs in 1,061 Parkinson's disease patients and 754 controls. A cumulative genetic risk score from 8 SNPs (SLC2A9 rs734553, ABCG2 rs2231142, SLC17A1 rs1183201, SLC22A12 rs505802, GCKR rs780094, PDZK1 rs12129861, LRRC16A/SCGN rs742132, SLC16A9 rs12356193) was significantly associated with increased PD risk (OR=1.55, p=0.012). The TMEM106b rs1020004 variant showed association with PD risk (p=0.003), and SORT1 rs646776 was associated with serum progranulin levels and PD-dementia risk.

Traits studied:Parkinson's diseaseParkinson's disease dementiaSerum progranulin levelsSerum uric acid levels
PubMedDOIMetascience Observatory

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]

View all ABCG2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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