Gene:
APOC1
apolipoprotein C-I

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

Variant?
(138)
Alternate Names / Tag SNPs ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available CA VA
rs429358 17680159T>C, 388T>C, 45411941T>C, 7903T>C, APOE:Cys112Arg, ApoE epsilon 4, ApoE4, Cys130Arg
T > C
Missense
Cys130Arg
No VIP available No Clinical Annotations available VA
rs445925 17683858G>A, 2720G>A, 45415640G>A
G > A
Not Available
No VIP available CA VA
rs7412 17680297C>T, 45412079C>T, 526C>T, 8041C>T, APOE epsilon 2, ApoE2, Arg176Cys
C > T
Missense
Arg176Cys
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA51

Details

Cytogenetic Location: chr19 : q13.2 - q13.32
GP mRNA Boundary: chr19 : 45417921 - 45422606
GP Gene Boundary: chr19 : 45407921 - 45425606
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Statin Pathway, Pharmacodynamics
    Genes involved in mediating statin effects on hepatic cholesterol metabolism and consequent effects on plasma lipoprotein transport.

External Pathways

Links to non-PharmGKB pathways.

PharmGKB contains no links to external pathways for this gene. To report a pathway, click here.

No related genes are available

Curated Information ?

Curated Information ?

Publications related to APOC1: 8

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genetic and nongenetic factors associated with warfarin doserequirements in Egyptian patients. Pharmacogenetics and genomics. 2011. Shahin Mohamed Hossam A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses. BMC medical genetics. 2011. Trompet Stella, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease. The pharmacogenomics journal. 2010. Roses A D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Dyslipidemia in HIV-infected individuals: from pharmacogenetics to pharmacogenomics. Pharmacogenomics. 2010. Tarr Philip E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genome-wide association of lipid-lowering response to statins in combined study populations. PloS one. 2010. Barber Mathew J, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Contribution of 20 single nucleotide polymorphisms of 13 genes to dyslipidemia associated with antiretroviral therapy. Pharmacogenetics and genomics. 2007. Arnedo Mireia, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Apolipoprotein E gene polymorphisms are associated with psoriasis but do not determine disease response to acitretin. The British journal of dermatology. 2006. Campalani E, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Modeling the influence of APOC3, APOE, and TNF polymorphisms on the risk of antiretroviral therapy-associated lipid disorders. The Journal of infectious diseases. 2005. Tarr Philip E, et al. PubMed

LinkOuts

Entrez Gene:
341
OMIM:
107710
UCSC Genome Browser:
NM_001645
RefSeq RNA:
NM_001645
RefSeq Protein:
NP_001636
RefSeq DNA:
AC_000062
AC_000151
NC_000019
NG_012859
NT_011109
NW_001838496
NW_927217
UniProtKB:
B2R526_HUMAN (B2R526)
APOC1_HUMAN (P02654)
Ensembl:
ENSG00000130208
GenAtlas:
APOC1
GeneCard:
APOC1
MutDB:
APOC1
ALFRED:
LO228818D
HuGE:
APOC1
Comparative Toxicogenomics Database:
341
ModBase:
P02654
HumanCyc Gene:
HS05354
HGNC:
607

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