Shaw S H, Mroczkowski-Parker Z, Shekhtman T, Alexander M, Remick R A, Sadovnick A D, McElroy S L, Keck P E, Kelsoe J R
Department of Psychiatry, University of California, San Diego, La Jolla, CA, USA.
Mol Psychiatry. 2003 May;8(5):558-64. doi: 10.1038/sj.mp.4001267.
Bipolar (BP) disorder or manic depressive illness is a major psychiatric disorder for which numerous family, twin and adoption studies support a substantial genetic contribution. Recently, we reported the results of a genome-wide search for BP disorder susceptibility loci in 20 pedigrees. Suggestive evidence for linkage was found in this study at three markers on 13q, representing possibly two peaks separated by 18 cM. We have now collected a second set of 32 pedigrees segregating BP disorder and have tested for evidence of linkage to markers on human chromosome 13q. In this sample, we have replicated the linkage result in 13q32 at D13S154 (lod=2.29), the more proximal of the two original peaks. When all 52 pedigrees were combined, the multipoint maximum lod score peaked approximately 7 cM proximal to D13S154 (lod=3.40), with a second peak occurring between D13S225 and D13S796 (lod=2.58). There have been several other reports of significant linkage to both BP disorder and schizophrenia in this region of chromosome 13. These pedigrees provide additional evidence for at least one locus for BP disorder in 13q32, and are consistent with other reports of a possible genetic overlap between these disorders.
双相情感障碍（BP），即躁郁症，是一种主要的精神疾病，众多家族、双胞胎及收养研究均支持其有显著的遗传因素。最近，我们报道了在20个家系中进行全基因组搜索双相情感障碍易感基因座的结果。在本研究中，于13号染色体长臂上的三个标记处发现了可能存在连锁的提示性证据，这三个标记代表了两个可能相隔18厘摩（cM）的峰。我们现在又收集了32个双相情感障碍家系作为第二组样本，并检测了与人类13号染色体长臂上标记的连锁证据。在这个样本中，我们在D13S154（优势对数记分=2.29）处重复了13q32区域的连锁结果，D13S154是两个原始峰中较靠近近端的那个峰。当把所有52个家系合并起来时，多点最大优势对数记分在D13S154近端约7厘摩处达到峰值（优势对数记分=3.40），第二个峰出现在D13S225和D13S796之间（优势对数记分=2.58）。在13号染色体的这个区域，还有其他几篇关于双相情感障碍和精神分裂症显著连锁的报道。这些家系为13q32区域至少存在一个双相情感障碍基因座提供了额外证据，并且与这些疾病之间可能存在遗传重叠的其他报道一致。
