Gene:
APOA1
apolipoprotein A-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 contains no drug labels with pharmacogenomic information for this . To report a drug label with PGx, click here.

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 No Clinical Annotations available VA
rs11216158 116711350G>A, 1989C>T, 20273766G>A
G > A
Not Available
No VIP available No Clinical Annotations available VA
rs2727784 116711141C>T, 20273557C>T, 2198G>A
C > T
Not Available
No VIP available No Clinical Annotations available VA
rs2727786 -223G>C, 116708523C>G, 20270939C>G, 4816G>C, APOA1: 2169G>C
C > G
5' Flanking
No VIP available No Clinical Annotations available VA
rs5128 *40G>C, 116703640G>C, 20266056G>C, 8017G>C, APOC3: 3238 C>G
G > C
3' UTR
No VIP available No Clinical Annotations available VA
rs613808 116710968A>G, 20273384A>G, 2371T>C
A > G
Not Available
No VIP available No Clinical Annotations available VA
rs670 -113G>A, 116708413C>T, 20270829C>T, 4926G>A
C > T
5' Flanking
No VIP available CA VA
rs964184 *365+359C>G, 116648917G>C, 20211333G>C
G > C
Intronic
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA49

Details

Cytogenetic Location: chr11 : q23.3 - q23.3
GP mRNA Boundary: chr11 : 116706469 - 116708338
GP Gene Boundary: chr11 : 116703469 - 116718338
Strand: minus
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.

  1. ABC-family proteins mediated transport - (Reactome via Pathway Interaction Database)
  2. Chylomicron-mediated lipid transport - (Reactome via Pathway Interaction Database)
  3. FOXA2 and FOXA3 transcription factor networks - (Pathway Interaction Database NCI-Nature Curated)
  4. Further platelet releasate - (Reactome via Pathway Interaction Database)
  5. HDL-mediated lipid transport - (Reactome via Pathway Interaction Database)
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
fenofibrate
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
pravastatin
Evidence Drug Class
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
protease inhibitors

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Hypertriglyceridemia

Publications related to APOA1: 9

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A statin-dependent QTL for GATM expression is associated with statin-induced myopathy. Nature. 2013. Mangravite Lara M, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Variants identified in a GWAS meta-analysis for blood lipids are associated with the lipid response to fenofibrate. PloS one. 2012. Aslibekyan 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
Single nucleotide polymorphisms in genes that are associated with a modified response to statin therapy: the Rotterdam Study. The pharmacogenomics journal. 2011. de Keyser C E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the genetics of lipid-lowering drugs and diet network study. Pharmacogenetics and genomics. 2009. Liu Yongjun, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Common sequence variant in lipoprotein lipase gene conferring triglyceride response to fibrate treatment. Pharmacogenomics. 2009. Chien Kuo-Liong, 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
Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. Circulation. Cardiovascular genetics. 2008. Chasman Daniel I, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Associations among race/ethnicity, ApoC-III genotypes, and lipids in HIV-1-infected individuals on antiretroviral therapy. PLoS medicine. 2006. Foulkes Andrea S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
An association study of 43 SNPs in 16 candidate genes with atorvastatin response. The pharmacogenomics journal. 2005. Thompson J F, 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
Gene-drug interaction: additive influence of mutant APOA1 and testosterone on plasma HDL-cholesterol. Clinical biochemistry. 2002. Keyhan Golyar, et al. PubMed

LinkOuts

Entrez Gene:
335
OMIM:
105200
107680
604091
UCSC Genome Browser:
NM_000039
RefSeq RNA:
NM_000039
RefSeq Protein:
NP_000030
RefSeq DNA:
AC_000054
AC_000143
NC_000011
NG_012021
NT_033899
NW_001838042
NW_925173
UniProtKB:
APOA1_HUMAN (P02647)
Ensembl:
ENSG00000118137
GenAtlas:
APOA1
GeneCard:
APOA1
MutDB:
APOA1
ALFRED:
LO000446O
HuGE:
APOA1
Comparative Toxicogenomics Database:
335
ModBase:
P02647
HumanCyc Gene:
HS04192
HGNC:
600

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