Igor Gaľa, Lucia Klimčáková, Mária Štolfová, Ivana Gotthardová, Eva Babjaková, Zbynek Schroner, Ivan Tkáč, Martin Javorský
Pharmacogenetic studies examine effects of gene variants on drug efficacy and side effects. The aim of this study was
to investigate possible association of the gene variant encoding key enzyme of gluconeogenesis – PEPCK (phosphoenolpyruvate
carboxykinase) encoded by PCK1 with response to metformin in type 2 diabetes patients. The study included
148 drug-naive patients with type 2 diabetes. PCK1 rs4810083 polymorphism was determined by PCR followed by
melting curve analysis. PCK1 rs4810083 was significantly associated with the reduction in HbA1c after 6-month treatment.
The CC homozygotes experienced by 0.43 % larger reduction in glycated haemoglobin compared with the carriers
of T allele (CC: 0.98 ± 0.16 vs. CT+TT: 0.55 ± 0.09 %; p = 0.029). In the multivariate logistic regression CC homozygotes
had a significantly higher chance of achieving therapeutic goal (HbA1c < 6.5 %): odds ratio (OR) 3.33 (95 % CI:
1.32 – 8.39; p = 0.011). If replicated the results of this study may find future practical implication in personalised treatment
of type 2 diabetes.