基于MALDI-TOF-MS技术检测36例患者神经与精神用药基因多态性与精准用药分析OA

AIM:To detect and analyze the poly-morphism of related drug genes in patients treated with neurological and psychiatric drugs,and to ex-plore the clinical value of gene detection for neuro-logical and psychiatric drugs,so as to provide basis for precision drug use.METHODS:Stroma-assisted laser desorption ionization time-of-flight mass spec-trometry(MALDI-TOF-MS)was employed to detect genes related to neurological and psychiatric drugs in 36 patients admitted to the department of psy-chology and sleep medicine at the second affiliated hospital of Anhui medical university between Febru-ary 2024 and September 2024.The polymorphisms of drug-metabolizing enzyme genes(CYP2D6 and CYP2C19)and target genes(FKBP5,SACM1L,MDGA2,HTR1A,and HTR2A)were analyzed.Based on the results of gene polymorphism,precision drug use analysis was conducted.RESULTS:Among the 36 patients,the mutation frequency of the CYP2D6*4 gene was the lowest at 0.00%,while that of the CYP2C19*2 gene was the highest at 44.4%.Regarding drug target gene polymorphisms,the AC genotype of MDGA2 had the highest frequency at 38.3%,the GG genotype of SACM1L was the most frequent at 63.8%,and the GG genotype of FKBP5 was prevalent at 61.1%.Additionally,the CG and GG genotypes of HTR1A both had the highest fre-quencies at 47.2%,and the GG genotype of HTR2A was the most common at 55.6%.For patients with the CYP2D6*10/*10 and CYP2C19*2/*2 genotypes,drug metabolism and clearance may be reduced.It is recommended to lower the dose and regularly monitor blood drug concentration in these patients.CONCLUSION:The polymorphism of genes related to neurological and psychotropic drugs is closely linked to patients'responses to these medications.Providing precision medication guidance based on genetic testing results for these drugs holds signifi-cant clinical value.