Abstract: Objective To compare the consistence between matrix-assisted laser desorption ionization time of flight mass spectrometry(MALDI-TOF-MS) with real-time fluorescence quantitative polymerase chain reaction (RT-qPCR) on genetic polymorphisms associated with the metabolism of lipids or drugs, and assess whether the MALDI-TOF-MS method can be used for clinical SLCO1B1 and ApoE gene polymorphism detection. Methods A total of 71 individuals diagnosed with hyperlipidemia, hypertension or atherosclerosis in Peking Union Medical College Hospital were included. The whole blood samples with EDTA were collected and genomic DNA was extracted. MALDI-TOF-MS and RT-qPCR were applied for analyzing rs2306283(388A＞G) and rs4149056(521T＞C)of SLCO1B1 as well as rs429358(388T＞C) and rs7412(526C＞T) of ApoE. The results of genetic polymorphisms were compared by Kappa coefficient. Results There were no statistically significant differences for genotype distribution of SLCO1B1 and ApoE between two methods. Only one sample had a typing difference in the rs4149056(521T＞C) locus between two methods. However, the results consistent with RT-qPCR were obtained after the sample was retested by MALDI-TOF-MS. Conclusions MALDI-TOF-MS can be applied to the detection of lipid and drug metabolism-related genes SLCO1B1 and ApoE polymorphisms, thereby guiding statins treatment.

Key words: MALDI-TOF-MS, RT-qPCR, genetic polymorphisms, statins