Craddock N, Jones I
Division of Neuroscience, University of Birmingham, UK.
Br J Psychiatry Suppl. 2001 Jun;41:s128-33.
A robust body of evidence from family, twin and adoption studies demonstrates the importance of genes in the pathogenesis of bipolar disorder. Recent advances in molecular genetics have made it possible to identify these susceptibility genes.
To present an overview for clinical psychiatrists.
Review of current molecular genetics approaches and emerging findings.
Occasional families may exist in which a single gene plays a major role in determining susceptibility, but the majority of bipolar disorder involves more complex genetic mechanisms such as the interaction of multiple genes and environmental factors. Molecular genetic positional and candidate gene approaches are being used for the genetic dissection of bipolar disorder. No gene has yet been identified but promising findings are emerging. Regions of interest include chromosomes 4p16, 12q23-q24, 16p13, 21q22, and Xq24-q26. Candidate gene association studies are in progress but no robust positive findings have yet emerged.
It is almost certain that over the next few years the identification of bipolar susceptibility genes will have a major impact on our understanding of disease pathophysiology. This is likely to lead to major improvements and treatment in patient care, but will also raise important ethical issues.
来自家族、双生子和收养研究的大量确凿证据表明,基因在双相情感障碍的发病机制中具有重要作用。分子遗传学的最新进展使得识别这些易感基因成为可能。
为临床精神科医生提供概述。
回顾当前的分子遗传学方法和新出现的研究结果。
可能存在个别家族,其中单个基因在决定易感性方面起主要作用,但大多数双相情感障碍涉及更复杂的遗传机制,如多个基因与环境因素的相互作用。分子遗传学定位和候选基因方法正被用于双相情感障碍的遗传学剖析。尚未鉴定出任何基因,但已出现有希望的研究结果。感兴趣的区域包括4号染色体p16、12号染色体q23 - q24、16号染色体p13、21号染色体q22和X染色体q24 - q26。候选基因关联研究正在进行,但尚未出现有力的阳性结果。
几乎可以肯定,在未来几年内,双相情感障碍易感基因的鉴定将对我们对疾病病理生理学的理解产生重大影响。这可能会导致患者护理方面的重大改善和治疗,但也会引发重要的伦理问题。