rs4149081

This is a intron variant variant in the SLCO1B1 gene.

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GWAS Catalog Trait Associations (9)

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

sex hormone-binding globulin measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.06
p 3.0e-75
N 322,484
Major Consortium StudyLarge GWAS
multi-ancestry

metabolite measurement

Suhre K et al. “Human metabolic individuality in biomedical and pharmaceutical research.” Nature 477(7362):54-60 (2011)
Allele A
OR 0.21
p 3.0e-22
N 2,820
Large GWAS
European

triglyceride measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.03
p 2.0e-20
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry

histidine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 5.0e-16
N 450,015
Large GWAS
multi-ancestry

BAG family molecular chaperone regulator 4 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.13
p 8.0e-15
N 10,708
Large GWAS
European

cystatin C measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 1.0e-12
N 355,752
Major Consortium StudyLarge GWAS
multi-ancestry

vitamin D level

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 1.0e-11
N 339,705
Major Consortium StudyLarge GWAS
multi-ancestry

bilirubin measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.15
p —
N 302,607
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Polymorphisms of the SLCO1B1 gene predict methotrexate‐related toxicity in childhood acute lymphoblastic leukemia
AssociationN=115Lopez-Lopez E. et al.(2011)· Pediatric Blood &amp; Cancer

This retrospective candidate gene study analyzed 115 Spanish pediatric B-ALL patients treated with high-dose methotrexate (MTX) under the standardized LAL/SHOP protocol. The study examined 10 polymorphisms in 7 genes (MTHFR, TS, SHMT1, RFC1, ABCB1, ABCG2, SLCO1B1) involved in MTX metabolism and their association with MTX toxicity using plasma MTX concentration as an objective marker. The key finding was a statistically significant association between the SLCO1B1 rs11045879 CC genotype and high MTX plasma concentrations (p=0.030 univariate, p=0.008 multivariate), with all patients carrying the CC genotype showing elevated MTX levels. The rs4149081 AA genotype in SLCO1B1 was also associated with high MTX plasma concentrations (p=0.097 univariate, p=0.057 multivariate). No significant associations were found with the other 8 polymorphisms in MTHFR, TS, SHMT1, RFC1, ABCB1, or ABCG2 genes.

Traits studied:DiarrheaHepatic toxicityHyperbilirubinemiaMethotrexate plasma concentrationMethotrexate-related toxicity in childhood acute lymphoblastic leukemiaMucositisRenal toxicityVomiting
PubMedDOIMetascience Observatory

About SLCO1B1

This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]

View all SLCO1B1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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