Samochowiec Jerzy, Kucharska-Mazur Jolanta, Kaminski Ryszard, Smolka Michael, Rommelschpacher Hans, Wernicke Catrin, Tymicz Agnieszka, Schmidt Lutz Gerhardt
Department of Psychiatry, Pomeranian Academy of Medicine, ul. Broniewskiego 26, 71-460 Szczecin, Poland.
Psychiatry Res. 2002 Aug 30;111(2-3):229-33. doi: 10.1016/s0165-1781(02)00145-2.
Abnormalities in monoamine neurotransmission have been implicated in the pathogenesis of alcoholism, mood disorders and schizophrenia. Murine norepinephrine transporter gene (NET) has been mapped to a region on chromosome 8 where a quantitative trait locus for ethanol sensitivity. Therefore we tested whether norepinephrine transporter (NET) gene variants confer susceptibility to either alcohol dependence or severe alcohol withdrawal symptoms. There is a highly polymorphic silent G1287A mutation in the NET gene. In our study 157 alcoholics and 185 healthy unrelated matched control subjects were analyzed for a silent G1287A mutation. No significant differences in allele and genotype distribution between control subjects f(A)=0.33 and alcoholics f(A)=0.29 were found. No significant results were found in more homogenous subgroups, i.e. alcoholics with severe alcohol withdrawal (seizures, delirium), early onset age<26 nor dependent patients with positive familial history of alcoholism. These results suggest that the NET gene polymorphism in exon 9 accession number: mRNA: NM_001043, genomic contig.: NT_019610, is unlikely to be involved in the susceptibility to alcoholism and severe alcohol withdrawal.
单胺神经传递异常与酒精中毒、情绪障碍和精神分裂症的发病机制有关。小鼠去甲肾上腺素转运体基因（NET）已被定位到8号染色体上的一个区域，该区域存在乙醇敏感性数量性状位点。因此，我们测试了去甲肾上腺素转运体（NET）基因变异是否会使人易患酒精依赖或严重的酒精戒断症状。NET基因存在一个高度多态性的沉默G1287A突变。在我们的研究中，对157名酗酒者和185名健康的无亲缘关系匹配对照受试者进行了沉默G1287A突变分析。对照受试者（f(A)=0.33）和酗酒者（f(A)=0.29）之间的等位基因和基因型分布没有显著差异。在更同质的亚组中也未发现显著结果，即患有严重酒精戒断（癫痫发作、谵妄）、发病年龄<26岁的酗酒者，以及有酒精中毒家族史阳性的依赖患者。这些结果表明，外显子9（登录号：mRNA: NM_001043，基因组重叠群：NT_019610）中的NET基因多态性不太可能与酒精中毒和严重酒精戒断的易感性有关。
