Kaye Walter H, Devlin Bernie, Barbarich Nicole, Bulik Cynthia M, Thornton Laura, Bacanu Silviu-Alin, Fichter Manfred M, Halmi Katherine A, Kaplan Allan S, Strober Michael, Woodside D Blake, Bergen Andrew W, Crow Scott, Mitchell James, Rotondo Alessandro, Mauri Mauro, Cassano Giovanni, Keel Pamela, Plotnicov Katherine, Pollice Christine, Klump Kelly L, Lilenfeld Lisa R, Ganjei J Kelly, Quadflieg Norbert, Berrettini Wade H
Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Int J Eat Disord. 2004 May;35(4):556-70. doi: 10.1002/eat.10271.
Twin and family studies suggest that genetic variants contribute to the pathogenesis of bulimia nervosa (BN) and anorexia nervosa (AN). The Price Foundation has supported an international, multisite study of families with these disorders to identify these genetic variations. The current study presents the clinical characteristics of this sample as well as a description of the study methodology.
All probands met modified criteria for BN or bulimia nervosa with a history of AN (BAN) as defined in the 4th ed. of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV; American Psychiatric Association, 1994). All affected relatives met DSM-IV criteria for BN, AN, BAN, or eating disorders not otherwise specified (EDNOS). Probands and affected relatives were assessed diagnostically using both trained-rater and self-report assessments. DNA samples were collected from probands, affected relatives, and available biologic parents.
Assessments were obtained from 163 BN probands and 165 BAN probands. Overall, there were 365 relative pairs available for linkage analysis. Of the affected relatives of BN probands, 62 were diagnosed as BN (34.8%), 49 as BAN (27.5%), 35 as AN (19.7%), and 32 as EDNOS (18.0%). For the relatives of BAN probands, 42 were diagnosed as BN (22.5%), 67 as BAN (35.8%), 48 as AN (25.7%), and 30 as EDNOS (16.0%).
This study represents the largest genetic study of eating disorders to date. Clinical data indicate that although there are a large number of individuals with BN disorders, a range of eating pathology is represented in the sample, allowing for the examination of several different phenotypes in molecular genetic analyses.
双胞胎和家族研究表明,基因变异在神经性贪食症(BN)和神经性厌食症(AN)的发病机制中起作用。普赖斯基金会资助了一项针对患有这些疾病的家庭的国际多中心研究,以确定这些基因变异。本研究介绍了该样本的临床特征以及研究方法。
所有先证者均符合《精神疾病诊断与统计手册》第4版(DSM-IV;美国精神病学协会,1994年)中定义的BN或有神经性厌食症病史的神经性贪食症(BAN)的修订标准。所有受影响的亲属均符合DSM-IV中BN、AN、BAN或未另行规定的饮食失调(EDNOS)的标准。先证者和受影响的亲属通过训练有素的评估者评估和自我报告评估进行诊断。从先证者、受影响的亲属和可用的生物学父母那里收集DNA样本。
对163名BN先证者和165名BAN先证者进行了评估。总体而言,有365对亲属可用于连锁分析。在BN先证者的受影响亲属中,62人被诊断为BN(34.8%),49人被诊断为BAN(27.5%),35人被诊断为AN(19.7%),32人被诊断为EDNOS(18.0%)。对于BAN先证者的亲属,42人被诊断为BN(22.5%),6