Goes Fernando S
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Meyer 4-119A, 600 North Wolfe Street, Baltimore, MD 21212, USA.
Psychiatr Clin North Am. 2016 Mar;39(1):139-55. doi: 10.1016/j.psc.2015.10.004.
Although genetic studies of Bipolar Disorder have been pursued for decades, it has only been in the last several years that clearly replicated findings have emerged. These findings, typically of modest effects, point to a polygenic genetic architecture consisting of multiple common and rare susceptibility variants. While larger genome-wide association studies are ongoing, the advent of whole exome and genome sequencing should lead to the identification of rare, and potentially more penetrant, variants. Progress along both fronts will provide novel insights into the biology of Bipolar Disorder and help usher in a new era of personalized medicine and improved treatments.
尽管对双相情感障碍的遗传学研究已开展了数十年,但直到最近几年才出现明确可重复的研究结果。这些结果通常效应较小,表明其遗传结构为多基因性,由多个常见和罕见的易感性变异组成。虽然规模更大的全基因组关联研究仍在进行中,但全外显子组和基因组测序技术的出现应能促使人们识别出罕见且可能更具外显率的变异。在这两方面取得的进展将为双相情感障碍的生物学机制提供新的见解,并有助于开启个性化医疗和改进治疗方法的新时代。