Riedel Michael, Krönig Holger, Schwarz Markus J, Engel Rolf R, Kühn Kai-Uwe, Sikorski Christopher, Sokullu Safet, Ackenheil Manfred, Möller Hans-Jürgen, Müller Norbert
Psychiatric Hospital, Ludwig-Maximilian University Munich, Nussbaumstr 7, 80336 Munich, Germany.
Eur Arch Psychiatry Clin Neurosci. 2002 Oct;252(5):232-4. doi: 10.1007/s00406-002-0386-1.
Several linkage analyses in schizophrenia research point to a locus on chromosome 6p22, where the gene coding for tumor necrosis factor-alpha (TNF-alpha) is located. A marked influence of antipsychotic medication on TNF-alpha has been described. As the involvement of an immune process in the pathophysiology of schizophrenia has been discussed, a functional TNF-alpha polymorphism appears to be a candidate in genetic schizophrenia research. The G308A polymorphism of the TNF-alpha gene was described to be associated with increased TNF-alpha production. Boin and colleagues have already described a significant association between the polymorphic allele and schizophrenia, investigating 84 schizophrenic patients (21 % polymorphic allele) and 138 healthy volunteers (11 % polymorphic allele), recruited in Northern Italy. We carried out a replication study including 157 schizophrenic patients and 186 healthy persons, who were recruited in Southern Germany. Psychopathology was additionally monitored by PANSS. We were not able to replicate the findings of Boin et al., as we did not find any difference in allele frequency or genotype distribution between our schizophrenic patients (13.7 % polymorphic allele) and healthy controls (16.9 % polymorphic allele). Moreover, we did not find any association between genotype and psychopathology, as measured by PANSS. The different results between these two studies may be due to ethnic differences.
精神分裂症研究中的多项连锁分析指向6号染色体p22位点,编码肿瘤坏死因子-α(TNF-α)的基因就位于该位点。已有研究描述了抗精神病药物对TNF-α有显著影响。由于免疫过程在精神分裂症病理生理学中的作用已被讨论,功能性TNF-α基因多态性似乎是精神分裂症基因研究的一个候选因素。TNF-α基因的G308A多态性被描述与TNF-α产生增加有关。博因及其同事在意大利北部招募了84名精神分裂症患者(多态性等位基因占21%)和138名健康志愿者(多态性等位基因占11%),他们已经描述了该多态性等位基因与精神分裂症之间存在显著关联。我们进行了一项重复研究,纳入了在德国南部招募的157名精神分裂症患者和186名健康人。此外,用阳性和阴性症状量表(PANSS)监测精神病理学情况。我们无法重复博因等人的研究结果,因为我们没有发现精神分裂症患者(多态性等位基因占13.7%)和健康对照者(多态性等位基因占16.9%)之间在等位基因频率或基因型分布上有任何差异。此外,用PANSS测量时,我们没有发现基因型与精神病理学之间存在任何关联。这两项研究结果不同可能是由于种族差异。