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Pharmacogenetic analysis in patients with familial hypercholesterolemia treated with atorvastatin

Grant number: 12/08118-8
Support Opportunities:Scholarships in Brazil - Scientific Initiation
Effective date (Start): September 01, 2012
Effective date (End): August 31, 2014
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Paulo Caleb Júnior de Lima Santos
Grantee:Aline da Cruz Morgan
Host Institution: Instituto do Coração Professor Euryclides de Jesus Zerbini (INCOR). Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil


Pharmacogenetics studies the genetic variation of individuals with respect to specific drugs. Certain individuals may react differently to the same type of drug, depending on their genetic variations. Some pharmacogenetic tests are available to health professionals, and increasingly, the regulatory agencies observe technological advances and understanding of the relationship pharmaco-genomics. Atorvastatin is a hypolipidemic used to treat patients with HF (familial hypercholesterolemia), reducing the levels of total cholesterol and LDL-C. In this context, the main objective is to associate the effect of polymorphisms in genes CYP3A4, CYP3A5, ABCB1, KIF6, HMGCR, SLCO1B1, and APOE with the therapeutic effectiveness and adverse effects in 150 patients diagnosed with HF and subjected to treatment with atorvastatin. Analysis of the genotypes is carried out by amplification of genomic DNA by polymerase chain reaction (PCR) followed by melting curve analysis (HRM). The expected results may show associations between markers studied and conditions for effective therapeutic or adverse effects, and this information may be useful in developing preventive and therapeutic medicine tailored to users of atorvastatin in our public service. (AU)

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