Boiko Anastasiia S, Pozhidaev Ivan V, Paderina Diana Z, Bocharova Anna V, Mednova Irina A, Fedorenko Olga Yu, Kornetova Elena G, Loonen Anton J M, Semke Arkadiy V, Bokhan Nikolay A, Ivanova Svetlana A
Molecular Genetics and Biochemistry Laboratory, Mental Health Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russian Federation.
Laboratory of Evolutionary Genetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russian Federation.
Pharmgenomics Pers Med. 2021 Sep 7;14:1123-1131. doi: 10.2147/PGPM.S327353. eCollection 2021.
Metabolic syndrome (MetS) is characterized by abdominal obesity, hyperglycaemia, dyslipidaemia and hypertension. FTO gene has been implicated in the pathogenesis of obesity, but the available scientific data concerning their relationship to antipsychotic drug-induced obesity and metabolic syndrome is still incomplete and inconsistent, which indicates that continuing the investigation of this gene's role is necessary.
In the present study, 517 patients with schizophrenia underwent antipsychotic drug treatment, and two groups were identified: patients with MetS and without MetS. Genotyping of 6 SNPs in the FTO gene was performed, and the results analyzed using R-programme.
We performed a statistical analysis to identify possible associations of the frequencies of genotypes and alleles of the studied polymorphisms with the presence of metabolic syndrome in schizophrenia patients, with the presence of abdominal obesity, and with an increased body mass index. The rs7185735 polymorphism did not meet the Hardy-Weinberg criterion and was excluded. After correcting for differences in age, gender and duration of illnesses, none of the variants was shown to be related to metabolic syndrome or abdominal obesity, but rs9939609, rs1421085, rs3751812 and rs8050136 were associated with body mass index.
The present study provides additional support for these SNP's roles as a pharmacogenetic biomarker that may become useful in the framework of the personalized medicine approach.
代谢综合征（MetS）的特征为腹型肥胖、高血糖、血脂异常和高血压。FTO基因与肥胖的发病机制有关，但关于其与抗精神病药物所致肥胖及代谢综合征之间关系的现有科学数据仍不完整且不一致，这表明继续研究该基因的作用很有必要。
在本研究中，517例精神分裂症患者接受了抗精神病药物治疗，并分为两组：患有MetS的患者和未患MetS的患者。对FTO基因中的6个单核苷酸多态性（SNP）进行基因分型，并使用R程序分析结果。
我们进行了统计分析，以确定所研究多态性的基因型和等位基因频率与精神分裂症患者代谢综合征的存在、腹型肥胖的存在以及体重指数增加之间的可能关联。rs7185735多态性不符合哈迪-温伯格标准，被排除在外。在校正年龄、性别和病程差异后，没有一个变异体显示与代谢综合征或腹型肥胖有关，但rs9939609、rs1421085、rs3751812和rs8050136与体重指数有关。
本研究为这些单核苷酸多态性作为药物遗传生物标志物的作用提供了额外支持，这在个性化医疗方法的框架内可能会有用。
