A simulated genetic structure for bipolar illness.
A simulated genetic structure for bipolar illness.
复制标题
双相情感障碍的模拟遗传结构。
DOI：
10.1002/ajmg.b.30724
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发表时间：
2008
期刊：
影响因子：
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通讯作者：
NurnbergerJr,JohnI
中科院分区：
文献类型：
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作者：
NurnbergerJr,JohnI
双相情感障碍被认为是一种多基因疾病。根据迄今为止文献中的候选基因发现，受影响人群中高达22%的遗传风险可以由6种基因变异解释，病例中平均等位基因频率为0.59，对照组为0.54。这些变异的平均等位基因特异性相对危险度（ASRR）为1.42（范围1.1-1.8）。全基因组关联研究的初步结果倾向于证实这种效应大小的估计。使用这些变异的特点作为指导，一个30等位基因的双相情感疾病模型，其中模态受影响的人将携带22个易感性变异，和中位数未受影响的人将携带15。在一个有100个等位基因的可比模型中，受模态影响的人将携带62个易感性变异，而未受影响的人的中位数为50个。在某种程度上，常见的基因变异与双相情感障碍有关，它们可能也广泛分布在一般人群中。由于考虑了复制的候选基因的神经生物学，因此可以构建潜在相关生物学途径的模型。© 2008 Wiley利斯公司
Bipolar illness is conceptualized as a polygenic condition. Based on candidate gene findings from the literature to date, up to 22% of the genetic risk in affected persons may be explained by six gene variants with an average allele frequency of 0.59 in cases and 0.54 in controls. The mean allele specific relative risk (ASRR) for these variants is 1.42 (range 1.1–1.8). Initial results from genome‐wide association studies tend to confirm this estimate of effect size. Using the characteristics of these variants as a guide, a 30 allele model for bipolar illness is presented in which the modal affected person would carry 22 susceptibility variants, and the median unaffected person would carry 15. In a comparable model with 100 alleles, the modal affected person would carry 62 susceptibility variants compared with a median of 50 in unaffecteds. To the extent that common gene variants are associated with bipolar disorder they may be expected to also be widely distributed in the general population. As the neurobiology of replicated candidate genes is considered, models of potentially relevant biological pathways may be constructed. © 2008 Wiley‐Liss, Inc.