PGx metabolic syndrome

SLCO1B1 encodes the hepatic uptake transporter OATP1B1, which contributes to the hepatic disposition of several statins. Reduced-function alleles decrease transporter activity and may increase statin exposure and the risk of statin-associated musculoskeletal symptoms, although the clinical impact varies between individual statins.

ABCG2 encodes the efflux transporter BCRP. Reduced-function alleles can increase exposure to certain substrate drugs, particularly rosuvastatin. Depending on the drug and exposure level, this may increase the risk of dose-related adverse effects, including musculoskeletal symptoms.

CYP2C9 is involved in the clearance of several medications used in patients with metabolic syndrome. Reduced CYP2C9 activity may lead to higher exposure to certain drugs, including some statins and sulfonylureas.

CYP2C19 activates the antiplatelet prodrug clopidogrel. Depending on the inherited genotype, CYP2C19 activity may be reduced or increased, resulting in altered formation of the active metabolite and corresponding changes in treatment response and bleeding risk.

CYP2D6 contributes to the metabolism of several beta-blockers. Genetic variation can lead to reduced, normal or increased enzyme activity and may therefore influence drug exposure and treatment response. Current pharmacogenetic dosing recommendations are primarily available for metoprolol, for which the impact of CYP2D6 genotype on drug exposure and clinical response has been well established.

Genotype-based predictions may be influenced by factors such as interacting co-medication, drug dose, adherence, and liver or kidney function, meaning that actual drug response may differ from the predicted phenotype.

This panel analyses clinically relevant pharmacogenetic variants in SLCO1B1, ABCG2, CYP2C9, CYP2C19 and CYP2D6. For CYP2D6, whole gene analysis including copy-number and structural variation assessment is performed to support accurate diplotype and phenotype assignment.

Pharmacogenetic variation in the tested genes may contribute to differences in drug efficacy, tolerability and safety of medication.

For current, actionable guidance consult the prescribing information for the relevant drug and the and guidelines, held with the other pharmacogenomic annotations at database.

Results are interpreted in the individual clinical context, and the treatment decision rests with the treating physician.

A normal result does not exclude the presence of rare or untested variants that may affect drug response.

Pharmacogenetic variation in the tested genes may contribute to differences in drug efficacy, tolerability and safety of medication.

For current, actionable guidance consult the prescribing information for the relevant drug and the and guidelines, held with the other pharmacogenomic annotations at database. Results are interpreted in the individual clinical context, and the treatment decision rests with the treating physician.

Content reviewed against the current guidelines on 4 August 2026. Pharmacogenomic classifications are periodically revised; the linked databases above hold the day-current version.

• Cooper-DeHoff RM, Niemi M, Ramsey LB, Luzum JA, Tarkiainen EK, Straka RJ, et al. Clinical Pharmacogenetics Implementation Consortium guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and statin-associated musculoskeletal symptoms. Clin Pharmacol Ther. 2022;111(5):1007-1021. PMID: .
• Wolthuis DFGJ, Nijenhuis M, Soree B, de Boer-Veger NJ, Buunk AM, Guchelaar HJ, et al. Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between SLCO1B1 and statins and CYP2C9 and sulfonylureas. Eur J Hum Genet. 2025;33(4):413-420. PMID: .
• Lee CR, Luzum JA, Sangkuhl K, Gammal RS, Sabatine MS, Stein CM, et al. Clinical Pharmacogenetics Implementation Consortium guideline for CYP2C19 genotype and clopidogrel therapy: 2022 update. Clin Pharmacol Ther. 2022;112(5):959-967. PMID: .
• Duarte JD, Thomas CD, Lee CR, Huddart R, Agundez JAG, Baye JF, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6, ADRB1, ADRB2, ADRA2C, GRK4, and GRK5 genotypes and beta-blocker therapy. Clin Pharmacol Ther. 2024;116(4):939-947. PMID: .
• Swissmedic. Simvastatin Fachinformation. Zulassung 62612. SLCO1B1 c.521T>C genotype-specific myopathy risk and genotyping recommendation. Current version July 2026. Available from:
• US Food and Drug Administration. PLAVIX (clopidogrel) prescribing information. NDA 020839. Boxed Warning and Pharmacogenomics section (12.5). Label effective May 30, 2025. Available from: