王小琼 钱正康 惠李 朱程 吴兢琴 尹晓莉 刘芹

[摘要] 目的 探讨白介素-18（interleukin-18，IL-18）基因rs1946518多态性是否是首发精神分裂症的易感基因位点，并进一步检测其是否影响精神分裂症患者的临床症状。 方法 招募首发精神分裂症患者348例和健康對照者419名，临床症状采用阳性与阴性症状量表（postive and negative syndrome scale， PANSS）进行评估，采用TaqMan SNP方法对IL-18基因rs1946518多态性进行基因分型为GG、GT、TT。制定CRF表，收集一般人口学和临床数据。结果 IL-18基因rs1946518位点基因型和等位基因的频率分布在首发精神分裂症患者与健康对照组间无显著性差异（χ2=1.60，df=2，P=0.45；χ2=0.73，df=1，P=0.39）。首发精神分裂症组按IL-18基因rs1946518位点的基因型进行分组分析：阳性症状（F=5.57，P=0.004）和临床症状总分（F=4.57，P=0.01）在组间出现显著差异。 结论 IL-18基因rs1946518位点可能不参与首发精神分裂症的发病，但它影响首发精神分裂症患者的临床精神症状，尤其阳性症状。

[关键词] 首发精神分裂症；IL-18基因；临床症状；rs1946518

[中图分类号] R749.3 [文献标识码] A [文章编号] 1673-9701（2018）10-0001-04

Correlation of IL-18 gene polymorphism with clinical psychological symptoms in the patients with first-episode schizophrenia

WANG Xiaoqiong1 QIAN Zhengkang2 HUI Li2 ZHU Cheng1 WU Jingqin2 YIN Xiaoli1 LIU Qin2

1.Clinical Laboratory， Affiliated Kangning Hospital of Wenzhou Medical University， Wenzhou 325000， China； 2.Department of Psychiatry， Affiliated Guangji Hospital， Suzhou University， Suzhou 215137， China

[Abstract] Objective To investigate whether rs1946518 polymorphism of interleukin-18 （IL-18） gene is a predisposing gene locus for first-episode schizophrenia， and to further determine whether it affects the clinical symptoms in the patients with schizophrenia. Methods 348 patients with first-episode schizophrenia and 419 healthy controls were recruited. Clinical symptoms were assessed using Positive and Negative Syndrome Scale（PANSS）. The TaqMan SNP method was used to carry out genetic typing of rs1946518 polymorphism of IL-18 gene as follows： GG， GT， TT. CRF table was established， and general demographic and clinical data were collected. Results There was no significant difference in genotype and allele frequencies of rs1946518 locus in IL-18 gene between the patients with first episode schizophrenia and healthy controls（χ2=1.60， df=2， P=0.45； χ2=0.73， df=1， P=0.39）. The genotype in the first schizophrenia group according to rs1946518 locus in IL-18 gene was analyzed in groups： total scores of positive symptoms（F=5.57， P=0.004） and clinical symptoms（F=4.57， P=0.01） were significantly different among groups. Conclusion rs1946518 locus in IL-18 gene may not be involved in the pathogenesis of first-episode schizophrenia， but it affects the clinical psychiatric symptoms in the patients with first-episode schizophrenia， especially positive symptoms.

[Key words] First-episode schizophrenia； IL-18 gene； Clinical symptoms； rs1946518

目前学者普遍认为免疫系统异常是精神分裂症发病的重要机制之一。已有研究结果显示精神分裂症发病与血液或脑脊液的细胞因子水平异常有相关性，如白介素-2（interleukin-2，IL-2）、白介素-6（interleukin-6，IL-6）、白介素-10（interleukin-10，IL-10）和白介素-18（interleukin-18，IL-18）[1]。IL-18广泛分布于机体中，主要作用为促进γ-干扰素分泌，增强NK细胞活性，促进Th1细胞的分化，参与Th1的生物反应。IL-18在炎症因子的介导下调控IL-1的水平[2，3]，并促进抗炎免疫因子（IL-2、IL-4）的产生[4]。IL-18基因位于人类染色体的11q22.2-q22.3区域，rs1946518位点在该基因上游调控区域的转录因子结合部位[5]，直接影响IL-18基因的转录和表达[6]。IL-18基因上rs1946518位点是一个功能性位点，可能参与精神分裂症的发病和临床精神症状。……