Alfimova M V, Golimbet V E, Korovaitseva G I, Lezheiko T V, Tikhonov D V, Ganisheva T K, Berezin N B, Snegireva A A, Shemiakina T K
Mental Health Research Center, Moscow, Russia.
Alekseev Psychiatric Hospital #1, Moscow, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2017;117(6):47-52. doi: 10.17116/jnevro20171176147-52.
To search for genetic mechanisms of facial emotion recognition (FER) impairment, one of the features of schizophrenia that affects social adaptation of patients. Based on the view implicating the interplay between dopaminergic and glutamatergic systems into the pathogenesis of schizophrenia, authors explored the interaction effects of the C366G polymorphism in the GRIN2B gene encoding NMDA receptor subunit NR2B with ANKK1/DRD2 Taq1A and 48-VNTR DRD4 polymorphisms on FER.
GRIN2B -DRD2 interaction effects were studied in a sample of 237 patients and 235 healthy controls, GRIN2B - DRD4 in 268 patients and 208 controls.
Both effects were significant in combined samples of patients and controls (GRIN2B X DRD2, F=4.12, p=0.043; GRIN2B X DRD4, F=6.43, p=0.012). Further analysis confirmed the interaction effect of GRIN2B and DRD2 polymorphisms on FER in patients with schizophrenia. In patients with a less efficient allele of the DRD2 in the absence of the minor allele of the GRIN2B C366G polymorphism, the results were close to normal values while patients with minor alleles of both polymorphisms showed the worst results. This finding is in line with the conceptions on a possible role of NMDA-receptor hypofunction and D2-mediated regulation of NMDA-receptor activity in FER impairments in schizophrenia.
寻找面部情绪识别（FER）受损的遗传机制，FER受损是精神分裂症影响患者社会适应能力的特征之一。基于多巴胺能系统与谷氨酸能系统相互作用参与精神分裂症发病机制的观点，作者探讨了编码N-甲基-D-天冬氨酸受体亚基NR2B的GRIN2B基因中C366G多态性与ANKK1/DRD2 Taq1A及48-可变数目串联重复序列DRD4多态性对FER的相互作用效应。
在237例患者和235名健康对照样本中研究GRIN2B-DRD2的相互作用效应，在268例患者和208名对照中研究GRIN2B-DRD4的相互作用效应。
在患者与对照的合并样本中，两种效应均具有显著性（GRIN2B×DRD2，F = 4.12，p = 0.043；GRIN2B×DRD4，F = 6.43，p = 0.012）。进一步分析证实GRIN2B和DRD2多态性对精神分裂症患者的FER存在相互作用效应。在不存在GRIN2B C366G多态性次要等位基因的情况下携带DRD2低效等位基因的患者，其结果接近正常水平，而携带两种多态性次要等位基因的患者结果最差。这一发现与NMDA受体功能低下以及D2介导的NMDA受体活性调节在精神分裂症FER损伤中可能发挥的作用的观点相符。
