PharmGKB contains no dosing guidelines for this gene. To report known dosing guidelines, or if you are interested in developing guidelines, click here.
Information regarding PGx on FDA drug labels is derived from the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels". Excerpts from the label and downloadable highlighted label PDFs are manually curated by PharmGKB.
Although the atorvastatin drug label does not specifically mention genetic testing, atorvastatin is indicated for treatment of familial hypercholesterolemia, a genetically determined condition.
Excerpt from the atorvastatin drug label:
"LIPITOR is indicated: 1. As an adjunct to diet to reduce elevated total-C, LDL-C, apoB, and TG levels and to increase HDL-C in patients with primary hypercholesterolemia (heterozygous familial and non-familial) ... 4. To reduce total-C and LDL-C in patients with homozygous familial hypercholesterolemia as an adjunct to other lipid-lowering treatments (e.g., LDL apheresis) or if such treatments or unavailable ..."
For the complete drug label text with sections containing pharmacogenetic information highlighted, see the Atorvastatin drug label.
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.
| Position ? | Drug ? | Relevance ? |
Strength of Evidence ? |
||
|---|---|---|---|---|---|
Download a summary of all Clinical Annotations available.
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.
PharmGKB contains no genetic tests for this gene. To report genetic tests, click here.
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.
Links in the "Drugs" column lead to PharmGKB Drug Pages.
|
Variant?
(build 132) |
Alternate Names ? | Drugs ? |
Alleles
?
(+ chr strand) |
Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|
| rs1433099 |
T > G
T > A
T > C
|
3' UTR | ||||
| rs2738466 |
A > T
A > C
A > G
|
3' UTR | ||||
| rs6511720 |
G > T
|
Intronic | ||||
| rs688 | LDLR: 16730C>T, c.1773C>T, g.2490404C>T, g.32546C>T |
C > T
|
Synonymous |
Asn591Asn
|
Overview
| Alternate Names: | LDL receptor; LDLR precursor; low density lipoprotein receptor (familial hypercholesterolemia); low-density lipoprotein receptor; low-density lipoprotein receptor class A domain-containing protein 3 |
|---|---|
| Alternate Symbols: | FH; FHC; LDLCQ2 |
| PharmGKB Accession Id: | PA227 |
Details
| Cytogenetic Location: | chr19 : p13.2 - p13.2 |
|---|---|
| GP mRNA Boundary†: | chr19 : 11200057 - 11244506 |
| GP Gene Boundary†: | chr19 : 11190057 - 11247506 |
| Strand: | plus |
| Product Name: | No data available |
PharmGKB Curated Pathways
Pathways created internally by PharmGKB based primarily on literature evidence.
-
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.
Publications related to LDLR: 16
Datasets
LinkOuts
- UniProtKB:
- LDLR_HUMAN (P01130)
- Q59FQ1_HUMAN (Q59FQ1)
- Ensembl:
- ENSG00000130164
- GenAtlas:
- LDLR
- GeneCard:
- GC19P011200 (3949)
- MutDB:
- LDLR
- ALFRED:
- LO000541K