Implementation of MassArray® technology for determination of SLCO1B1 gene variant associated with adverse effect of statin therapy

Konference: 2014 10. symposium a workshop molekulární patologie a histo(cyto)chemie

Kategorie: Nádorová biologie/imunologie/genetika a buněčná terapie

Téma: Postery

Číslo abstraktu: p09

Autoři: Mgr. Lenka Pašková; MUDr. Jana Petřková, Ph.D.; Mgr. at Mgr. Zeněk Nosek; Prof. MUDr. Martin Petřek, CSc.


statins are highly effective drugs in lowering plasmatic concentration of LDL-cholesterol. Aggressive treatment with statins reduces the risk of cardiovascular events in patients with coronary artery disease. Organic anion transporting polypeptide 1B1 (OA TP1B1) encoded by the gene SLCO1B1 plays an important role in statin metabolism. The presence of SNP rs4149056 (521T>C) in the SLCO1B1 gene has been associated with increased risk of statin-induced adverse effects such as myopathy. Therefore we aimed at implementation of a reliable and effective genotyping method for rs4149056 determination using Sequenom® (MassArray®) technology, which combines multiplex PCR amplification with MALDI-TOF mass spectrometry detection.


Specific primers for genotyping of SNP rs4149056 were designed by Assay Design Suite (Sequenom®). DNA samples obtained from 123 patients with acute myocardial infarction were processed using iPLEX® Gold Reagent Kit (Sequenom®). The results of genotyping were obtained in 36-48 hours after blood sampling. The allele and genotype frequencies of rs4149056 were determined by direct counting and compared with those reported previously for other European populations. Results: The frequency of the rs4149056 low activity C allele was 17.5 %, which is similar to the frequency (18.0 %) determined in European populations. The distribution of individual genotypes was TT = 69.1 %, TC = 26.8 % and CC = 4.1 %, which complied with Hardy-Weinberg equilibrium (P>0.05). The results show that 31.0 % of our patients carried the“risk” C allele in their genotype.


The distribution of SLCO1B1 (rs4149056) SNP in the investigated Czech population does not differ from the other European populations. The MassArray® technology enables accurate and relatively fast determination of the SLCO1B1 polymorphism. Thereby this methodology may be recommended for early identification of patients in risk of adverse reactions to statin treatment and for its individualization.

Grant support: IGA PU LF 2014_012 and CZ.1.05/2.1.00/01.0030


Datum přednesení příspěvku: 24. 4. 2014