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rs4149056

Chromosome : 12 , Position: 21178615

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: T

Alternative Alleles: C

Associated Genes

SLCO1B1

IAPP

PYROXD1

SLCO1A2

GOLT1B

RECQL

SLCO1B3

SLCO1B3-SLCO1B7

SPX

GYS2

SLCO1C1

Traits

Trait	Variant	PMID	Author (year)
Serum metabolite levels [glycochenodeoxycholate glucuronide (1]	C	Am J Hum Genet	Feofanova EV (2020)
Urinary metabolite levels in chronic kidney disease [glycocholenate sulfate]	C	Nat Genet	Schlosser P (2020)
Urinary metabolite levels in chronic kidney disease [X – 21470]	C	Nat Genet	Schlosser P (2020)
Serum metabolite levels [glycocholenate sulfate*]	C	Am J Hum Genet	Feofanova EV (2020)
Serum metabolite levels [hexadecanedioate]	C	Am J Hum Genet	Feofanova EV (2020)
Plasma estrone conjugates levels in resected early stage estrogen-receptor positive breast cancer	C	Breast Cancer Res Treat	Dudenkov TM (2017)
Serum metabolite levels [tetradecanedioate]	C	Am J Hum Genet	Feofanova EV (2020)
Serum metabolite levels [glycodeoxycholate sulfate]	C	Am J Hum Genet	Feofanova EV (2020)
Serum metabolite levels [taurocholenate sulfate]	C	Am J Hum Genet	Feofanova EV (2020)
Blood metabolite ratios [isoleucine/X-11529]	C	Nat Genet	Shin SY (2014)
Blood metabolite levels [X-11529]	C	Nat Genet	Shin SY (2014)
Serum metabolite levels [bilirubin (E,Z or Z,E)*]	C	Am J Hum Genet	Feofanova EV (2020)
Serum metabolite levels [octadecanedioate]	C	Am J Hum Genet	Feofanova EV (2020)
Serum metabolite levels [pregnenolone sulfate]	C	Am J Hum Genet	Feofanova EV (2020)
Serum metabolite levels [androstenediol (3beta,17beta) disulfate (2]	C	Am J Hum Genet	Feofanova EV (2020)
Mean reticulocyte volume	C	Unknown journal	UKB Neale v2 (2018)
Metabolite levels [C18:1-DC]	C	Hum Mol Genet	Chai JF (2019)
Metabolite levels [C18-DC:C20-OH]	C	Hum Mol Genet	Chai JF (2019)
Blood metabolite levels [X-12063]	C	Nat Genet	Shin SY (2014)
Blood metabolite levels [X-11491]	C	Nat Genet	Shin SY (2014)
Blood metabolite levels [X-12456]	C	Nat Genet	Shin SY (2014)
Bilirubin levels	C	Hum Mol Genet	Johnson AD (2009)
Blood metabolite levels [4-androsten-3beta,17beta-diol disulfate 2]	C	Nat Genet	Shin SY (2014)
Free thyroxine concentration	C	Nat Commun	Teumer A (2018)
Bioavailable testosterone levels	C	Nat Med	Ruth KS (2020)
Mean corpuscular haemoglobin	C	Unknown journal	UKB Neale v2 (2018)
Triglycerides	C	Nat Genet	Klarin D (2018)
Mean spheric corpuscular volume	C	Cell	Vuckovic D (2020)
Blood metabolite levels [1-arachidonoylglycerophosphoethanolamine]	C	Nat Genet	Shin SY (2014)
Sex hormone-binding globulin levels [Men + Women]	C	PLoS Genet	Coviello AD (2012)
Total testosterone levels	C	Nat Med	Ruth KS (2020)
Mean corpuscular volume	C	Cell	Vuckovic D (2020)
Mean corpuscular hemoglobin	C	Cell	Vuckovic D (2020)
Urate levels	C	Nat Genet	Tin A (2019)
Fasting plasma glycochenodeoxycholate 3-O-glucuronide concentration	C	Clin Pharmacol Ther	Neuvonen M (2020)
Fasting plasma glycodeoxycholate 3-O-glucuronide concentration	C	Clin Pharmacol Ther	Neuvonen M (2020)
Heel bone mineral density	C	Am J Hum Genet	Kichaev G (2018)
Metabolite levels [LPE 20:4]	C	Cell Metab	Rhee EP (2013)
Response to statin therapy	C	N Engl J Med	Link E (2008)
Serum metabolite levels [X-11529]	C	PLoS Genet	Krumsiek J (2012)
Serum metabolite levels [X-11538]	C	PLoS Genet	Krumsiek J (2012)
Serum metabolite levels [X-12063]	C	PLoS Genet	Krumsiek J (2012)
Serum metabolite levels [X-12456]	C	PLoS Genet	Krumsiek J (2012)
Serum metabolite levels [X-13429]	C	PLoS Genet	Krumsiek J (2012)
Statin-induced myopathy (severe)	C	Clin Pharmacol Ther	Carr DF (2019)
Triglyceride levels	C	Circ Genom Precis Med	Ripatti P (2020)

Summary

influences statin response

rs72559745 (SLCO1B1*1) AA AA
rs56061388 (SLCO1B1*3) TT TT
rs4149056 (SLCO1B1*5) TT TT
rs55901008 (SLCO1B1*6) TT TT

rs4149056, also known as 37041T>C or V174A, is a SNP in the SLCO1B1 gene, which encodes the ‘organic anion transporting polypeptide 1B1’ (OATP1B1) protein. This protein, found primarily in the liver, regulates the uptake of numerous drugs and natural compounds. The rs4149056(C) SNP defines the SLCO1B1*5 allele.

The rs4149056(C) allele gives rise to an amino acid change (from valine to alanine at residue 174) which has reduced uptake/transport activity. Therefore, drugs metabolized by OATP1B1 tend to build up to higher circulating concentrations than they would otherwise.[Statin Response

[PMID 23233662] Genome-wide study of methotrexate clearance replicates SLCO1B1

[PMID 23652803] Germline genetic variations in methotrexate candidate genes are associated with pharmacokinetics, toxicity and outcome in childhood acute lymphoblastic leukemia

[PMID 24459608] SLCO1B1 Polymorphisms and Statin-Induced Myopathy

[PMID 22562052] SLCO1B1 *15 haplotype is associated with rifampin-induced liver injury.

[PMID 22711709] Influence of polymorphic OATP1B-type carriers on the disposition of docetaxel.

[PMID 22990751] OATP1B1 polymorphism as a determinant of erythromycin disposition.

[PMID 23100282] Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.

[PMID 23133420] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.

[PMID 23183505] Possible gene-gender interaction between the SLCO1B1 polymorphism and statin treatment efficacy.

[PMID 23471819] Direct and rapid genotyping of SLCO1B1 388A>G and 521T>C in human blood specimens using the SmartAmp-2 method.

[PMID 23480028] Fentanyl pharmacokinetics is not dependent on hepatic uptake by organic anion-transporting polypeptide 1B1 in human beings.

[PMID 23503447] Discordant associations between SLCO1B1 521T–>C and plasma levels of ritonavir-boosted protease inhibitors in AIDS clinical trials group study A5146.

[PMID 23708174] Lack of association between SLCO1B1 polymorphisms and clinical myalgia following rosuvastatin therapy.

[PMID 23778707] International Transporter Consortium commentary on clinically important transporter polymorphisms.

[PMID 25124723] SLC19A1, SLC46A1 and SLCO1B1 Polymorphisms As Predictors Of Methotrexate-Related Toxicity In Portuguese Rheumatoid Arthritis Patients

[PMID 24865931] Combined effects of the UGT1A1 and OATP2 gene polymorphisms as major risk factor for unconjugated hyperbilirubinemia in Indian neonates

[PMID 25935875] Effect of genetic variations on ticagrelor plasma levels and clinical outcomes

[PMID 26334272] SLCO1B1 c.388A>G Polymorphism Is Associated with HDL-C Levels in Response to Atorvastatin in Chilean Individuals

[PMID 25098908] Influence of the folate pathway and transporter polymorphisms on methotrexate treatment outcome in osteosarcoma

More Information

influences statin response

rs72559745 (SLCO1B1*1) AA AA
rs56061388 (SLCO1B1*3) TT TT
rs4149056 (SLCO1B1*5) TT TT
rs55901008 (SLCO1B1*6) TT TT