双相情感障碍与钠钾三磷酸腺苷α亚基基因（ATP1A3）之间等位基因关联的证据。
Evidence for an allelic association between bipolar disorder and a Na+, K+ adenosine triphosphatase alpha subunit gene (ATP1A3).
作者信息
Mynett-Johnson L, Murphy V, McCormack J, Shields D C, Claffey E, Manley P, McKeon P
机构信息
Department of Genetics, Trinity College Dublin, Ireland.
出版信息
Biol Psychiatry. 1998 Jul 1;44(1):47-51. doi: 10.1016/s0006-3223(97)00343-0.
BACKGROUND
Disturbances in central nervous system Na+, K+ adenosine triphosphatase (ATPase) activity have previously been proposed as being involved in the pathophysiology of bipolar mood disorder.
METHODS
We have examined one particular alpha subunit of this enzyme for allelic association in a sample of 85 Irish bipolar patients and 85 matched controls.
RESULTS
There was evidence for an overall allelic association between the disease and a dinucleotide polymorphism within the ATP1A3 gene (p = .022). Subjects were then analyzed on the basis of a number of criteria, and the significance of the association increased when cases were divided based on the nature of the first episode. Patients who presented with a depressive episode first showed a significant association (p = .001) with this polymorphism.
CONCLUSIONS
The results presented here provide preliminary evidence of an association between bipolar disorder and an alpha subunit of Na+, K+ ATPase, the expression of which predominates in the brain.
背景
先前有人提出中枢神经系统钠钾三磷酸腺苷酶（ATP酶）活性紊乱与双相情感障碍的病理生理学有关。
方法
我们在85名爱尔兰双相情感障碍患者和85名匹配对照的样本中检测了该酶的一个特定α亚基的等位基因关联。
结果
有证据表明该疾病与ATP1A3基因内的二核苷酸多态性之间存在总体等位基因关联（p = 0.022）。然后根据一些标准对受试者进行分析，当根据首发症状的性质对病例进行划分时，关联的显著性增加。首次出现抑郁发作的患者与这种多态性有显著关联（p = 0.001）。
结论
此处给出的结果提供了双相情感障碍与钠钾ATP酶的一个α亚基之间存在关联的初步证据，该亚基的表达在大脑中占主导地位。
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