Analysis of variations in the NAPG gene on chromosome 18p11 in bipolar disorder.
Analysis of variations in the NAPG gene on chromosome 18p11 in bipolar disorder.
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双相情感障碍染色体 18p11 上 NAPG 基因的变异分析。
DOI：
10.1097/01.ypg.0000180678.88169.b0
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发表时间：
2006
期刊：
影响因子：
--
通讯作者：
Berrettini,WadeH
中科院分区：
文献类型：
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作者：
Weller,AndrewE;Dahl,JohnP;Lohoff,FalkW;Ferraro,ThomasN;Berrettini,WadeH
目的多项研究表明染色体 18p11 区域是双相情感障碍的易感区域。编码 γ-SNAP (NAPG) 的基因是三种可溶性 N-乙基马来酰亚胺敏感融合 (NSF) 附着蛋白 (SNAP) 之一，位于 18p11 区域，被认为在中枢神经系统神经传递所需的细胞过程中发挥作用。本研究的目的是调查人类 NAPG 基因中的多态性是否与双相情感障碍的病因有关。方法为了检验这一假设，我们使用了病例对照设计，其中在诊断为 I 型双相情感障碍的个体 (n= 460) 和对照个体 (n= 191) 之间比较了人类 NAPG 基因中五个单核苷酸多态性的基因型和等位基因频率。结果基因型结果表明，其中三个NAPG 基因中的单核苷酸多态性 rs2290279 (P= 0.027)、rs495484 (P= 0.044) 和 rs510110 (P= 0.046) 在基因型频率水平上与双相情感障碍显示出名义上的、统计学上显着的关联。 结论 这项研究的结果表明，人类 NAPG 基因中的多态性可能代表双相情感障碍的危险因素双相情感障碍的发展，但在确定这种作用之前，必须在其他双相情感障碍患者和对照人群中确认本研究的结果。
ObjectiveA number of studies have implicated the chromosome 18p11 region as a susceptibility region for bipolar disorder. The gene encoding γ-SNAP (NAPG), one of three soluble N-ethylmaleimide-sensitive fusion (NSF)-attachment proteins (SNAPs), is located in the 18p11 region and is thought to play a role in cellular processes required for neurotransmission in the central nervous system. The purpose of this study is to investigate whether polymorphisms in the human NAPG gene contribute to the etiology of bipolar disorder.MethodsTo test this hypothesis, we used a case–control design in which the genotype and allele frequencies for five single-nucleotide polymorphisms in the human NAPG gene were compared between individuals with a diagnosis of type I bipolar disorder (n= 460) and control individuals (n= 191).ResultsThe genotype results indicate that three of the single-nucleotide polymorphisms in the NAPG gene, rs2290279 (P= 0.027), rs495484 (P= 0.044) and rs510110 (P= 0.046), show a nominal, statistically significant association with bipolar disorder at the genotype frequency level.ConclusionsThe results of this study suggest that polymorphisms in the human NAPG gene may represent risk factors for the development of bipolar disorder, but before such a role can be established, the results of this study must be confirmed in additional populations of bipolar disorder patients and controls.