Pauls David L
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.
Dialogues Clin Neurosci. 2010;12(2):149-63. doi: 10.31887/DCNS.2010.12.2/dpauls.
Obsessive-compulsive disorder (OCD) is a serious psychiatric disorder that affects approximately 2% of the populations of children and adults. Family aggregation studies have demonstrated that OCD is familial, and results from twin studies demonstrate that the familiality is due in part to genetic factors. Only three genome-wide linkage studies have been completed to date, with suggestive but not definitive results. In addition, over 80 candidate gene studies have been published. Most of these studies have focused on genes in the serotonergic and dopaminergic pathways. Unfortunately, none have achieved genome-wide significance, and, with the exception of the glutamate transporter gene, none have been replicated. Future research will require the collaboration of multidisciplinary teams of investigators to (i) achieve sufficiently large samples of individuals with OCD; (ii) apply the state-of-the-art laboratory techniques; and (iii) perform the bioinformatic analyses essential to the identification of risk loci.
强迫症(OCD)是一种严重的精神疾病,影响着约2%的儿童和成人。家族聚集性研究表明强迫症具有家族性,而双胞胎研究结果表明这种家族性部分归因于遗传因素。迄今为止,仅完成了三项全基因组连锁研究,结果具有提示性但不明确。此外,已发表了80多项候选基因研究。这些研究大多集中在血清素能和多巴胺能途径中的基因。不幸的是,没有一项研究达到全基因组显著性水平,除了谷氨酸转运体基因外,没有一项研究得到重复验证。未来的研究将需要多学科研究团队的合作,以(i)获得足够大的强迫症患者样本;(ii)应用最先进的实验室技术;以及(iii)进行识别风险位点所必需的生物信息学分析。