Guy C A, Bowen T, Jones I, McCandless F, Owen M J, Craddock N, O'Donovan M C
Division of Psychological Medicine, University of Wales College of Medicine, Health Park, Cardiff, CF4 4XN, United Kingdom.
Neurobiol Dis. 1999 Aug;6(4):302-7. doi: 10.1006/nbdi.1999.0249.
Several groups have reported association between large CAG/CTG repeat sequences in the genome and bipolar disorder using the Repeat Expansion Detection (RED) method. Unfortunately, the RED method cannot identify the specific repeat(s) responsible for these findings but it has recently been proposed that around 90% of the large CAG/CTG repeats detected by RED can be explained by repeat size at either CTG18.1, which maps to 18q21.1, or ERDA-1 (also known as Dir 1), which maps to 17q21.3. These data suggest that the previous associations between bipolar disorder and large CAG/CTG repeats might be explained at least in part by a specific association between bipolar disorder and either or both of these loci. However, using a case control study design, we find no evidence for such associations. Thus we conclude that in our sample, the previous RED associations are not a result of large CAG/CTG repeats at CTG18.1 or ERDA-1.
有几个研究小组使用重复序列扩增检测(RED)方法报告了基因组中大型CAG/CTG重复序列与双相情感障碍之间的关联。不幸的是,RED方法无法识别导致这些结果的具体重复序列,但最近有人提出,RED检测到的大约90%的大型CAG/CTG重复序列可以用位于18q21.1的CTG18.1或位于17q21.3的ERDA-1(也称为Dir 1)处的重复序列大小来解释。这些数据表明,双相情感障碍与大型CAG/CTG重复序列之间先前的关联可能至少部分是由双相情感障碍与这两个基因座中的一个或两个之间的特定关联所解释的。然而,使用病例对照研究设计,我们没有发现这种关联的证据。因此,我们得出结论,在我们的样本中,先前RED检测到的关联不是CTG18.1或ERDA-1处大型CAG/CTG重复序列的结果。