Department of Psychiatry, Pomeranian Medical University, Broniewskiego 26, PL 71-460 Szczecin, Poland.
Pharmacol Rep. 2013;65(5):1185-93. doi: 10.1016/s1734-1140(13)71476-2.
Deficit schizophrenia (DS) is distinguished from the group of schizophrenic psychoses based on the presence of primary negative symptoms. It differs from nondeficit (NDS) forms of schizophrenia in dimensions such as risk factors, family history, course of illness and neurobiological differences. The aim of the study was assessment of a potential association of the investigated polymorphisms of the brain-derived neurotrophic factor (BDNF) and catechol-O-methyltransferase (COMT) genes with the deficit syndrome in schizophrenia.
A cohort of 200 patients with schizophrenia (81 DS and 119 NDS subjects) and a group of 100 control subjects matched for ethnicity, sex and age were recruited. Somatic and psychometric assessment were conducted as well as structured interview about the influence of adverse biological, family and social factors. Genetic analysis of the BDNF (Val66Met) rs6265 and the COMT (Val158Met) rs4680 polymorphisms was performed.
We found significant differences between DS and NDS in rs4680 COMT genotype distribution: more homozygous Val/Val were found (31 vs. 17%) in the NDS compared to the DS subgroup. No associations were found between the investigated polymorphisms of the BDNF gene and the presence of schizophrenia either in DS and NDS subgroups.
The analysis of the COMT rs4680 polymorphism in the present DS and NDS study shows that some genetic factors may be relevant in analyzing the reasons for the differentiation of schizophrenic subtypes.
缺损型精神分裂症(DS)与以原发性阴性症状为特征的精神分裂症组不同。它与非缺损型(NDS)精神分裂症在危险因素、家族史、病程和神经生物学差异等方面存在差异。本研究的目的是评估脑源性神经营养因子(BDNF)和儿茶酚-O-甲基转移酶(COMT)基因的研究多态性与精神分裂症缺损综合征之间的潜在关联。
招募了 200 名精神分裂症患者(81 例 DS 和 119 例 NDS 患者)和 100 名匹配种族、性别和年龄的对照组。进行了躯体和心理测量评估,并进行了关于不良生物、家庭和社会因素影响的结构化访谈。对 BDNF(Val66Met)rs6265 和 COMT(Val158Met)rs4680 多态性进行了基因分析。
我们发现 DS 和 NDS 之间在 COMT rs4680 基因型分布上存在显著差异:NDS 组中纯合 Val/Val 型(31%)比 DS 组(17%)多。在 DS 和 NDS 亚组中,均未发现 BDNF 基因的研究多态性与精神分裂症的存在之间存在关联。
本研究中 DS 和 NDS 中 COMT rs4680 多态性的分析表明,某些遗传因素可能与分析精神分裂症亚型分化的原因有关。