网状内皮素4受体基因多态性与中国汉族精神分裂症关联分析

摘要

目的:分析网状内皮素4受体(RTN4R)基因上的5个单核苷酸多态性(SNP)与中国汉族精神分裂症关联,探讨RTN4R基因单核苷酸多态性与精神分裂症易感性的关系.方法:收集符合美国精神障碍诊断与统计手册第4版(DSM-Ⅳ)诊断的528名偏执型精神分裂症患者,在同一地域招募健康体检者528名作为对照,并采用阳性与阴性症状量表(PANSS)评估234例首次发病患者的临床症状,采用基因分型芯片对RTN4R基因上的5个功能单核苷酸多态性位点进行基因分型,分析多态性与疾病的关联性,以及PANSS因子分与RTN4R多态性的关联.结果:成功检测5个单核苷酸多态性位点的基因型,关联分析显示这些位点基因型和等位基因频率分布病例和对照之间差异无统计学意义.与携带rs696880位点GG基因型患者相比,携带AA基因型患者PANSS阳性分[(23.5±5.6)vs.(25.1±7.6),P＜0.05]、一般精神病理症状分[(42.6±9.9)vs.(46.0±13.4),P＜0.05]均较低,携带AA基因型患者发病年龄晚于携带GG型患者[(24.9±8.1)岁vs.(22.2±6.2)岁,P＜0.05].结论:在中国汉族人群中,RTN4R基因多态性与精神分裂症可能不存在关联,但可能影响疾病表现.%Objective:To analyze the association between single nucleolide polymorphisms (SNPs) in reticu-lon 4 receptor (RTN4R) gene and schizophrenia, to determine if the RTN4R gene is a susceptibility gene for schizophrenia in the Han Chinese population. Methods: Totally 528 paranoid schizophrenic patients met the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-W) criteria and 528 healthy controls were recruited. Six SNPs of RTN4R were selected and genotyped using the Illumina GoldenGate assay. Genotype and allele frequencies were compared between patients and controls to assess the association to schizophrenia. The clinical features of the first onset patients were further examined with the Positive and Negative Syndrome Scale (PANSS) before treatment with antipsychotics. Results: All SNPs were well genotyped in subjects. No significant difference was shown in frequencies of genotypes and alleles of all SNPs between patients and controls (P >0. 05). The significant difference was found among patients groups with three genotypes of rs696880 at positive syndrome score and general psychopathology score of PANSS. The positive syndrome score [ (23.5 ± 5.6) vs. (25.1 ± 7.6), P < 0.05 ] and general psychopathology score [(42.6 ±9.9) vs. (6.0± 13.4),P<0.05] was lower in the patients with AA genotype than the patients with GG genotype. The onset age of patients with three genotypes of rs696880 showed a significant difference. The mean of onset age of patients with AA genotype was higher than the patients with GG genotype I (24.9 ±8. 1) vs. (22.2 ± 6. 2) years, P <0.057. Conclusion: In this study, no association is found between SNPs of RTN4R gene and schizophrenia, but RTN4R gene may be associated with the clinical features of the first onset patients.