中国浙江省精神疾病患者中FKBP5、ABCB1、MC4R、ANKK1和DRD2基因多态性的分析
Analysis of Gene Polymorphisms of FKBP5, ABCB1, MC4R, ANKK1 and DRD2 in Patients with Psychiatric Disorders in Zhejiang Province, China
DOI: 10.12677/ijpn.2026.153010, PDF,    科研立项经费支持
作者: 杨 倩, 张 骏, 冯立锋：浙江省嘉兴市海宁市第四人民医院精神科，浙江 嘉兴；周月强：浙江省嘉兴市海宁市第四人民医院内科，浙江 嘉兴；徐安宁, 金 蓉：浙江省舟山市第二人民医院精神科，浙江 舟山；张素娟：迪安诊断技术集团有限公司，浙江 杭州；章健民*：浙江省立同德医院(浙江精神卫生中心)精神卫生科，浙江 杭州
关键词: 基因型；多态性；等位基因；精神疾病；汉族；Genotype； Polymorphism； Alleles； Psychiatric Disorders； Han Chinese
摘要: 目的：探究浙江省患有精神疾病的汉族患者中ABCB1、MC4R、ANKK1、DRD2、FKBP5基因的多态性，以指导药物选择。方法：2023年至2024年期间，从浙江省的三家医院收集了762名患者。通过数字飞行时间质谱法检测了FKBP5 (rs4713916)、ABCB1 (rs1045642)、MC4R (rs489693)、ANKK1 (rs1800497)和DRD2 (rs1799978, rs1799732)的基因多态性。通过性别比较基因型频率，然后与其他汉族人群进行比较。结果：在所有基因型频率方面，男女之间没有统计学上的显著差异。与其他汉族人群相比，FKBP5 rs4713916 (χ2 =13.000, p = 0.002)、MC4R rs489693 (χ2 = 17.712, p = 0.000)、DRD2 rs1799978 (χ2 = 6.620, p = 0.037)和DRD2 rs1799732 (χ2 = 17.452, p = 0.000)的基因型频率存在显著差异。而在ABCB1 rs1045642 (χ2 = 1.400, p = 0.506)和ANKK1 rs1800497 (χ2 = 0.133, p = 0.936)的基因型频率方面未检测到显著差异。结论：本研究尚不清楚为何汉族人群在MC4R rs489693、DRD2 rs1799978和DRD2 rs1799732这些基因多态性方面存在差异。不过，FKBP5、ABCB1、MC4R、ANKK1和DRD2的基因型分布应是药物代谢、反应和毒性选择方面的重要考量因素之一。
Abstract: Objective: To investigate the gene polymorphisms of ABCB1, MC4R, ANKK1, DRD2, and FKBP5 in Han Chinese patients with psychiatric disorders in Zhejiang Province to guide drug selection. Methods: From 2023 to 2024, 762 patients were collected from three hospitals in Zhejiang Province. The gene polymorphisms of FKBP5 (rs4713916), ABCB1 (rs1045642), MC4R (rs489693), ANKK1 (rs1800497) and DRD2 (rs1799978, rs1799732) were detected by digital time-of-flight mass spectrometry. The genotype frequencies were compared by gender, and then compared with those of other Han Chinese populations. Results: There were no statistically significant differences in the frequencies of all genotypes between males and females. Compared with other Han Chinese populations, the genotype frequencies of FKBP5 rs4713916 (χ2 = 13.000, p = 0.002), MC4R rs489693 (χ2 = 17.712, p = 0.000), DRD2 rs1799978 (χ2 = 6.620, p = 0.037), and DRD2 rs1799732 (χ2 = 17.452, p = 0.000) showed significant differences. However, no significant differences were detected in the genotype frequencies of ABCB1 rs1045642 (χ2 = 1.400, p = 0.506) and ANKK1 rs1800497 (χ2 = 0.133, p = 0.936). Conclusions: This study does not yet clarify why there are differences in the genetic polymorphisms of MC4R rs489693, DRD2 rs1799978 and DRD2 rs1799732 among the Han Chinese population. However, the genotype distributions of FKBP5, ABCB1, MC4R, ANKK1 and DRD2 should be one of the important considerations in the selection of drug metabolism, response and toxicity.
文章引用：杨倩, 周月强, 张骏, 冯立锋, 徐安宁, 金蓉, 张素娟, 章健民. 中国浙江省精神疾病患者中FKBP5、ABCB1、MC4R、ANKK1和DRD2基因多态性的分析[J]. 国际神经精神科学杂志, 2026, 15(3): 82-90. https://doi.org/10.12677/ijpn.2026.153010

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