The common variants/multiple disease hypothesis of common complex genetic disorders
The common variants/multiple disease hypothesis of common complex genetic disorders
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DOI：
10.1016/s0306-9877(03)00332-3
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发表时间：
2004-01-01
影响因子：
4.7
通讯作者：
Becker, KG
中科院分区：
文献类型：
--
作者：
Becker, KG
与简单的罕见孟德尔疾病不同，常见疾病的遗传基础尚不清楚。提出了常见复杂疾病遗传学的一般模型，强调了精神分裂症和双相情感障碍、II型糖尿病和肥胖症等相关常见疾病以及自身免疫性疾病之间的共同等位基因的共同性质。这个模型是常见的变种/多病假说，强调许多疾病基因可能不是疾病特有的。常见的有害等位基因在人群中出现的频率相对较高，在不同的遗传背景和环境条件下，可能在相关的临床表型中发挥作用。爱思唯尔有限公司出版。
Unlike simple rare Mendelian disorders, the genetic basis for common disorders is unclear. A general model of the genetics of common complex disorders is proposed which emphasizes the shared nature of common alleles in related common disorders, such as schizophrenia and bipolar disorder, Type II diabetes and obesity, and among autoimmune diseases. This model, the common variants/multiple disease hypothesis, emphasizes that many disease genes may not be disease specific. Common deleterious alleles, found at a relatively high frequency in the population may play a role in related clinical phenotypes in the context of different genetic backgrounds and under different environmental conditions. Published by Elsevier Ltd.