Bailer Ursula, Leisch Friedrich, Meszaros Kurt, Lenzinger Elisabeth, Willinger Ulrike, Strobl Rainer, Heiden Angela, Gebhardt Christian, Döge Elisabeth, Fuchs Karoline, Sieghart Werner, Kasper Siegfried, Hornik Kurt, Aschauer Harald N
Department of General Psychiatry, University Hospital for Psychiatry, Vienna, Austria.
Biol Psychiatry. 2002 Jul 1;52(1):40-52. doi: 10.1016/s0006-3223(02)01320-3.
Despite the widely accepted view that schizophrenia and bipolar disorder represent independent illnesses and modes of inheritance, some data in the literature suggest that the diseases may share some genetic susceptibility. The objective of our analyses was to search for vulnerability loci for the two disorders.
A genomewide map of 388 microsatellite DNA markers was genotyped in five schizophrenia and three bipolar disorder Austrian families. Linkage analyses was used to compute the usual parametric logarithm of the likelihood of linkage (LOD) scores and nonparametric linkage analysis (NPL scores Z(all)) was used to assess the pattern of allele sharing at each marker locus relative to the presence of the disease (GENEHUNTER). Affected status was defined as severe affective disorder or schizophrenia.
Across the genome, p values associated with NPL scores resulted in evidence (i.e., p <.0007) for linkage at marker D3S1265 on chromosome 3q (NPL score Z (all) = 3.74, p =.0003). Two other markers (on 3q and 6q) showed p values of <.01.
We detected a potential susceptibility locus for bipolar disorder and schizophrenia on chromosome 3q, which has not been reported previously. The possibility of a false positive result has to be taken into account. Our data suggest shared loci for schizophrenia and bipolar affective disorders and are consistent with the continuum model of psychosis.
尽管人们普遍认为精神分裂症和双相情感障碍是独立的疾病及遗传模式，但文献中的一些数据表明这两种疾病可能存在一些共同的遗传易感性。我们分析的目的是寻找这两种疾病的易患基因座。
对5个精神分裂症奥地利家庭和3个双相情感障碍奥地利家庭的388个微卫星DNA标记进行全基因组基因分型。连锁分析用于计算连锁可能性的常用参数对数（LOD）得分，非参数连锁分析（NPL得分Z（全部））用于评估每个标记位点相对于疾病存在的等位基因共享模式（GENEHUNTER）。患病状态定义为重度情感障碍或精神分裂症。
在整个基因组中，与NPL得分相关的p值表明在3号染色体3q上的标记D3S1265处存在连锁证据（即p <.0007）（NPL得分Z（全部） = 3.74，p =.0003）。另外两个标记（在3q和6q上）的p值 <.01。
我们在3号染色体3q上检测到一个双相情感障碍和精神分裂症的潜在易感基因座，此前尚未有相关报道。必须考虑到假阳性结果的可能性。我们的数据表明精神分裂症和双相情感障碍存在共同的基因座，与精神病的连续模型一致。
