Pauls David L, Fernandez Thomas V, Mathews Carol A, State Matthew W, Scharf Jeremiah M
Department of Psychiatry, Harvard Medical School, Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114.
Child Study Center and Department of Psychiatry, Yale University School of Medicine, New Haven, CT 06520.
J Obsessive Compuls Relat Disord. 2014 Oct 1;3(4):380-385. doi: 10.1016/j.jocrd.2014.06.003.
Georges Gilles de la Tourette, in describing the syndrome that now bears his name, observed that the condition aggregated within families. Over the last three decades, numerous studies have confirmed this observation, and demonstrated that familial clustering is due in part to genetic factors. Recent studies are beginning to provide clues about the underlying genetic mechanisms important for the manifestation of some cases of Tourette Disorder (TD). Evidence has come from different study designs, such as nuclear families, twins, multigenerational families, and case-control samples, together examining the broad spectrum of genetic variation including cytogenetic abnormalities, copy number variants, genome-wide association of common variants, and sequencing studies targeting rare and/or variation. Each of these classes of genetic variation holds promise for identifying the causative genes and biological pathways contributing to this paradigmatic neuropsychiatric disorder.
乔治·吉尔斯·德·拉·图雷特在描述如今以他的名字命名的综合征时指出,这种病症在家族中具有聚集性。在过去三十年里,大量研究证实了这一观察结果,并表明家族聚集现象部分归因于遗传因素。最近的研究开始为某些抽动秽语障碍(TD)病例表现所涉及的潜在遗传机制提供线索。证据来自不同的研究设计,如核心家庭、双胞胎、多代家庭以及病例对照样本,共同研究包括细胞遗传学异常、拷贝数变异、常见变异的全基因组关联以及针对罕见和/或变异的测序研究等广泛的遗传变异谱。这些遗传变异类别中的每一类都有望识别出导致这种典型神经精神疾病的致病基因和生物学途径。