Leckman James F, Pauls David L, Zhang Heping, Rosario-Campos Maria C, Katsovich Liliya, Kidd Kenneth K, Pakstis Andrew J, Alsobrook John P, Robertson Mary M, McMahon William M, Walkup John T, van de Wetering Ben J M, King Robert A, Cohen Donald J
Yale Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
Am J Med Genet B Neuropsychiatr Genet. 2003 Jan 1;116B(1):60-8. doi: 10.1002/ajmg.b.10001.
Obsessive-compulsive disorder (OCD) is an etiologically heterogeneous disorder. Recent factor analyses have consistently identified several symptom dimensions, two of which are associated with increased familial risk for OCD; aggressive, sexual, and religious obsessions and checking compulsions (FACTOR 1) and symmetry and ordering obsessions and compulsions (FACTOR 2). Both of these symptom dimensions are also frequently seen in association with Gilles de la Tourette syndrome (GTS). The purpose of this study was to determine whether these obsessive-compulsive (OC) symptom dimensions are correlated within families (between sibs and between parent-child pairs). Using data collected by the Tourette Syndrome Association International Consortium for Genetics Affected Sibling Pair Study, the authors selected all available GTS sib pairs and their parents for which these OC symptom dimensions (factor scores) could be generated. This group included 128 full sibs and their mothers (54) and fathers (54). Four OC symptom dimension scores were computed for each family member using an algorithm derived from item endorsements from the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS) symptom checklist. In addition to a series of univariate analyses, complex segregation analyses were also completed using these quantitative OC symptom dimension scores. FACTOR 1 and FACTOR 2 scores were significantly correlated in sib pairs concordant for GTS. The mother-child correlations, but not father-child correlations, were also significant for these two factors. Segregation analyses were consistent with dominant major gene effects for both FACTOR 1 and FACTOR 2. We conclude that familial factors contribute significantly to OC symptom dimension phenotypes in GTS families. This familial contribution could be genetic or environmental.
强迫症（OCD）是一种病因异质性疾病。最近的因素分析一致确定了几个症状维度，其中两个与强迫症的家族风险增加有关；攻击性、性和宗教性强迫观念以及检查强迫行为（因素1）和对称性与秩序性强迫观念及强迫行为（因素2）。这两个症状维度也经常与抽动秽语综合征（GTS）相关联。本研究的目的是确定这些强迫观念及强迫行为（OC）症状维度在家族内部（兄弟姐妹之间以及亲子对之间）是否相关。利用抽动秽语综合征协会国际遗传学联盟受影响同胞对研究收集的数据，作者选择了所有可获得的GTS同胞对及其父母，这些对象的OC症状维度（因素得分）可以生成。该组包括128对全同胞及其母亲（54名）和父亲（54名）。使用从耶鲁-布朗强迫症量表（Y-BOCS）症状清单中的项目认可得出的算法，为每个家庭成员计算四个OC症状维度得分。除了一系列单变量分析外，还使用这些定量的OC症状维度得分完成了复杂的分离分析。在GTS一致的同胞对中，因素1和因素2得分显著相关。这两个因素的母子相关性显著，但父子相关性不显著。分离分析与因素1和因素2的显性主基因效应一致。我们得出结论，家族因素对GTS家族中的OC症状维度表型有显著贡献。这种家族贡献可能是遗传的或环境的。
