Gene: SLCO1B1

Alternate names for this Gene: HBLRR|LST-1|LST1|OATP-C|OATP1B1|OATP2|OATPC|SLC21A6

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12p12.1

Description of this Gene: solute carrier organic anion transporter family member 1B1

Type of Gene: protein-coding

rs11045879 in SLCO1B1 gene and Bilirubin level result PMID 19414484 2009 Genome-wide association meta-analysis for total serum bilirubin levels.

PMID 21646302 2011 Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.

rs11045879 in SLCO1B1 gene and Bilirubin measurement PMID 19414484 2009 Genome-wide association meta-analysis for total serum bilirubin levels.

PMID 31319653 2019 A total of 5 genetic variants-TRPM8 (rs10490012), USP40 (rs12993249), ATG16L1 (rs2119503), SLCO1B1 (rs4149014), and SLCO1B3 (rs73233620)-were selected as genetic instruments for serum bilirubin levels using a communitybased cohort, the Korean Genome and Epidemiology Study, comprising 33,598 subjects.

PMID 27897004 2017 IDENTIFYING GENETIC ASSOCIATIONS WITH VARIABILITY IN METABOLIC HEALTH AND BLOOD COUNT LABORATORY VALUES: DIVING INTO THE QUANTITATIVE TRAITS BY LEVERAGING LONGITUDINAL DATA FROM AN EHR.

PMID 21646302 2011 Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.

rs7954542 in SLCO1B1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4149018 in SLCO1B1 gene and Chagas Cardiomyopathy PMID 24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.

rs10841753 in SLCO1B1 gene and ESTRONE MEASUREMENT PMID 28429243 2017 SLCO1B1 polymorphisms and plasma estrone conjugates in postmenopausal women with ER+ breast cancer: genome-wide association studies of the estrone pathway.

rs4149056 in SLCO1B1 gene and Estradiol level result PMID 22829776 2012 A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.

rs4149056 in SLCO1B1 gene and Estradiol measurement PMID 22829776 2012 A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.

rs4149056 in SLCO1B1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4149081 in SLCO1B1 gene and Glucose measurement PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.

rs2417957 in SLCO1B1 gene and Ischemic stroke PMID 26732560 2016 Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2.

rs4149056 in SLCO1B1 gene and Myopathy PMID 31220337 2019 The data highlight the role of SLCO1B1 c.521C>T SNP as a replicable genetic risk factor for statin myopathy.

rs71581941 in SLCO1B1 gene and Rotor Syndrome PMID 25546334 2015 Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype.

PMID 18159134 2007 Genetic variations and frequencies of major haplotypes in SLCO1B1 encoding the transporter OATP1B1 in Japanese subjects: SLCO1B1*17 is more prevalent than *15.

PMID 22232210 2012 Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.

rs11045879 in SLCO1B1 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs4149056 in SLCO1B1 gene and Sex hormone binding globulin measurement PMID 22829776 2012 Loci near the identified SNPs included SHBG (rs12150660, 17p13.1, p = 1.8 × 10(-106)), PRMT6 (rs17496332, 1p13.3, p = 1.4 × 10(-11)), GCKR (rs780093, 2p23.3, p = 2.2 × 10(-16)), ZBTB10 (rs440837, 8q21.13, p = 3.4 × 10(-09)), JMJD1C (rs7910927, 10q21.3, p = 6.1 × 10(-35)), SLCO1B1 (rs4149056, 12p12.1, p = 1.9 × 10(-08)), NR2F2 (rs8023580, 15q26.2, p = 8.3 × 10(-12)), ZNF652 (rs2411984, 17q21.32, p = 3.5 × 10(-14)), TDGF3 (rs1573036, Xq22.3, p = 4.1 × 10(-14)), LHCGR (rs10454142, 2p16.3, p = 1.3 × 10(-07)), BAIAP2L1 (rs3779195, 7q21.3, p = 2.7 × 10(-08)), and UGT2B15 (rs293428, 4q13.2, p = 5.5 × 10(-06)).

rs4149056 in SLCO1B1 gene and Squamous cell carcinoma PMID 23103227 2012 Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.

rs4149056 in SLCO1B1 gene and Thyroxine measurement PMID 30367059 2018 Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.

rs4149056 in SLCO1B1 gene and Triglycerides measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs4149056 in SLCO1B1 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs4149081 in SLCO1B1 gene and elevated blood glucose level PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.