Precision medication analysis based on the detection of neurological and psychotropic drug gene polymorphisms in 36 patients using MALDI-TOF-MS technology

doi:10.12092/j.issn.1009-2501.2026.03.006

Abstract

Abstract:

AIM: To detect and analyze the polymorphism of related drug genes in patients treated with neurological and psychiatric drugs, and to explore the clinical value of gene detection for neurological and psychiatric drugs, so as to provide basis for precision drug use. METHODS: Stroma-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-MS) was employed to detect genes related to neurological and psychiatric drugs in 36 patients admitted to the department of psychology and sleep medicine at the second affiliated hospital of Anhui medical university between February 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 frequencies 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 significant clinical value.

Key words: matrix-assisted laser desorption ionization time-of-flight mass spectrometry, gene polymorphism, precision medicine, neurological and psychotropic drugs, genetic testing

CLC Number:

R969
R749

Yanan CHEN, Yaru YANG, Chen JIANG, Feng YAO, Ke WANG, Renpeng ZHOU, Yingjie ZHAO, Wei HU. Precision medication analysis based on the detection of neurological and psychotropic drug gene polymorphisms in 36 patients using MALDI-TOF-MS technology[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2026, 31(3): 344-351.

Figures/Tables 5

References 14

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位点	基因型	检测基因型	合格性
rs1065852	AG	AG	yes
rs4244285	AG	AG	yes
rs12248560	CC	CC	yes
rs4986893	GG	GG	yes
rs28371725	CC	CC	yes
rs3892097	CT	CT	yes

位点	基因型	检测基因型	合格性
rs1065852	AG	AG	yes
rs4244285	AG	AG	yes
rs12248560	CC	CC	yes
rs4986893	GG	GG	yes
rs28371725	CC	CC	yes
rs3892097	CT	CT	yes

基因位点	性别	WW（例）	构成比（%）	WM（例）	构成比（%）	MM（例）	构成比（%）	基因频率（%）
基因位点	性别	WW（例）	构成比（%）	WM（例）	构成比（%）	MM（例）	构成比（%）	W	M
rs3892097 （CPY2D6*4）（W=C）	男	17	100	0	0	0	0	100	0
	女	19	100	0	0	0	0	100	0
	总	36	100	0	0	0	0	100	0
rs1065852 （CYP2D6*10）（W=A）	男	5	29.4	11	64.7	1	5.9	61.8	38.2
	女	8	42.1	8	42.1	3	15.8	63.2	36.8
	总	13	36.1	19	52.8	4	11.1	62.5	37.5
rs28371725 （CYP2D6*41）（W=C）	男	15	88.2	2	11.8	0	0	94.1	5.9
	女	18	94.7	1	5.3	0	0	97.4	2.6
	总	33	91.7	3	8.3	0	0	95.8	4.2
rs4244285 （CYP2C19*2）（W=G）	男	12	70.6	4	23.5	1	5.9	82.4	17.6
	女	8	42.1	9	47.4	2	10.5	65.8	34.2
	总	20	55.6	13	36.1	3	8.3	55.6	44.4
rs4986893 （CYP2C19*3）（W=G）	男	17	100	0	0	0	0	100	0
	女	16	84.2	3	15.8	0	0	92.1	7.9
	总	33	91.7	3	8.3	0	0	95.8	4.2
rs12248560 （CYP2C19*17）（W=C）	男	16	94.1	1	5.9	0	0	97.1	2.9
	女	19	100	0	0	0	0	100	0
	总	35	97.2	1	2.8	0	0	98.6	1.4

基因位点	性别	WW（例）	构成比（%）	WM（例）	构成比（%）	MM（例）	构成比（%）	基因频率（%）
基因位点	性别	WW（例）	构成比（%）	WM（例）	构成比（%）	MM（例）	构成比（%）	W	M
rs3892097 （CPY2D6*4）（W=C）	男	17	100	0	0	0	0	100	0
	女	19	100	0	0	0	0	100	0
	总	36	100	0	0	0	0	100	0
rs1065852 （CYP2D6*10）（W=A）	男	5	29.4	11	64.7	1	5.9	61.8	38.2
	女	8	42.1	8	42.1	3	15.8	63.2	36.8
	总	13	36.1	19	52.8	4	11.1	62.5	37.5
rs28371725 （CYP2D6*41）（W=C）	男	15	88.2	2	11.8	0	0	94.1	5.9
	女	18	94.7	1	5.3	0	0	97.4	2.6
	总	33	91.7	3	8.3	0	0	95.8	4.2
rs4244285 （CYP2C19*2）（W=G）	男	12	70.6	4	23.5	1	5.9	82.4	17.6
	女	8	42.1	9	47.4	2	10.5	65.8	34.2
	总	20	55.6	13	36.1	3	8.3	55.6	44.4
rs4986893 （CYP2C19*3）（W=G）	男	17	100	0	0	0	0	100	0
	女	16	84.2	3	15.8	0	0	92.1	7.9
	总	33	91.7	3	8.3	0	0	95.8	4.2
rs12248560 （CYP2C19*17）（W=C）	男	16	94.1	1	5.9	0	0	97.1	2.9
	女	19	100	0	0	0	0	100	0
	总	35	97.2	1	2.8	0	0	98.6	1.4

基因位点	基因型	例数（例）	构成比（%）	临床意义
rs1160351 （MDGA2）	AA	11	30.6	AA型患者的性功能障碍风险可能较高
	AC	14	38.8	AC型性功能障碍风险适中，常规用药
	CC	11	30.6	CC型性功能障碍风险可能较低，常规用药
rs2742390 （SACM1L）	AA	2	5.6	AA型的性功能障碍风险较低，常规用药
	AG	11	30.6	AG型的性功能障碍风险适中，常规用药
	GG	23	63.8	GG型性功能障碍风险可能较高，建议换药
rs4713916 （FKBP5）	AA	1	2.8	AA型药物应答可能较好，常规用药
	AG	13	36.1	AG型药物应答适中，常规用药
	GG	22	61.1	GG型药物应答可能较差，警惕药效不足
rs6295（HTR1A）	CC	2	5.6	CC型药物应答可能较好，常规用药
	CG	17	47.2	CG型在用药4周时的药物应答可能较差，警惕药效不足
	GG	17	47.2	GG型在用药4周时的药物应答可能较好，常规用药
rs7997012 （HTR2A）	AA	4	11.1	AA型症状改善的可能性较高，常规用药
	AG	12	33.3	AG型症状改善的可能性较高，常规用药
	GG	20	55.6	GG型症状改善可能性低，建议换药