Rohrmeier T, Putzhammer A, Schoeler A, Sartor H, Dallinger P, Nöthen M M, Propping P, Knapp M, Albus M, Borrmann M, Knothe K, Kreiner R, Franzek E, Lichtermann D, Rietschel M, Maier W, Klein H E, Eichhammer P
Department of Psychiatry, University of Regensburg, Germany.
Psychiatr Genet. 1999 Dec;9(4):169-75.
hSKCa3 is a neuronal small conductance calcium-activated potassium channel, which contains a polyglutamine tract, encoded by a polymorphic CAG repeat in the gene. Since an association between longer alleles of this CAG repeat and bipolar disorder or schizophrenia has been reported, we genotyped the polymorphic CAG repeat in 91 German family trios of patients with bipolar disorder I and used the transmission disequilibrium test (TDT) to test for association. Applying a dichotomized model (< or = 19 or > 19 CAG triplets), we found no evidence for an association of longer alleles with bipolar disorder (TDT = 0.75, P = 0.386). Regarding the whole range of alleles, there was no preference in transmitting the larger of the two observed alleles from parents to the affected offspring. In parallel we performed an independent case-control study on German patients with bipolar disorder and schizophrenia. Again we did not detect an overrepresentation of longer CAG repeats in patients. Thus, our data do not support the hypothesis that longer CAG repeats in the hSkCa3 gene contribute to the susceptibility for bipolar disorder and schizophrenia.
hSKCa3是一种神经元小电导钙激活钾通道,其包含一个多聚谷氨酰胺序列,由该基因中一个多态性的CAG重复序列编码。由于已经报道了该CAG重复序列的较长等位基因与双相情感障碍或精神分裂症之间存在关联,我们对91个患有I型双相情感障碍的德国家庭三联体中的多态性CAG重复序列进行了基因分型,并使用传递不平衡检验(TDT)来检验关联性。应用二分模型(≤19或>19个CAG三联体),我们没有发现较长等位基因与双相情感障碍存在关联的证据(TDT = 0.75,P = 0.386)。就等位基因的整个范围而言,在将两个观察到的等位基因中较大的一个从父母传递给受影响的后代方面没有偏好。同时,我们对德国双相情感障碍和精神分裂症患者进行了一项独立的病例对照研究。我们同样没有在患者中检测到较长CAG重复序列的过度出现。因此,我们的数据不支持hSkCa3基因中较长的CAG重复序列导致双相情感障碍和精神分裂症易感性的假说。