rs4149014
This is a upstream gene variant variant in the SLCO1B1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
bilirubin measurement
▶Research that mentions this SNP (1)
▶Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populationsAssociationN=2,060Rong Lin et al.(2009)· Human Mutation
This association study investigated polymorphisms in four bilirubin metabolism genes (UGT1A1, HMOX1, BLVRA, SLCO1B1) with serum total bilirubin (TBIL) levels in three Asian populations (502 Kazak, 769 Uyghur, 789 Han). The UGT1A1 (TA)n repeat polymorphism and rs4148323:G>A were strongly associated with TBIL levels across all three populations (P<0.005), with the (TA)7 allele and A allele associated with higher TBIL levels. The (GT)n repeat polymorphism in HMOX1 showed association only in the Uyghur population. The (TA)n repeat and rs4148323 variants together explained 3.9-9.8% of TBIL variation by population.
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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