神经性厌食症协作研究的遗传学：方法与样本描述
The genetics of anorexia nervosa collaborative study: methods and sample description.
作者信息
Kaye Walter H, Bulik Cynthia M, Plotnicov Katherine, Thornton Laura, Devlin Bernie, Fichter Manfred M, Treasure Janet, Kaplan Allan, Woodside D Blake, Johnson Craig L, Halmi Katherine, Brandt Harry A, Crawford Steve, Mitchell James E, Strober Michael, Berrettini Wade, Jones Ian
机构信息
Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania.
出版信息
Int J Eat Disord. 2008 May;41(4):289-300. doi: 10.1002/eat.20509.
OBJECTIVE
Supported by National Institute of Mental Health (NIMH), this 12-site international collaboration seeks to identify genetic variants that affect risk for anorexia nervosa (AN).
METHOD
Four hundred families will be ascertained with two or more individuals affected with AN. The assessment battery produces a rich set of phenotypes comprising eating disorder diagnoses and psychological and personality features known to be associated with vulnerability to eating disorders.
RESULTS
We report attributes of the first 200 families, comprising 200 probands and 232 affected relatives.
CONCLUSION
These results provide context for the genotyping of the first 200 families by the Center for Inherited Disease Research. We will analyze our first 200 families for linkage, complete recruitment of roughly 400 families, and then perform final linkage analyses on the complete cohort. DNA, genotypes, and phenotypes will form a national eating disorder repository maintained by NIMH and available to qualified investigators.
目的
在国家心理健康研究所（NIMH）的支持下，这项由12个研究点参与的国际合作旨在识别影响神经性厌食症（AN）风险的基因变异。
方法
将确定400个家庭，每个家庭中有两个或更多患有AN的个体。评估组合产生了一组丰富的表型，包括饮食失调诊断以及已知与饮食失调易感性相关的心理和人格特征。
结果
我们报告了前200个家庭的特征，包括200名先证者和232名受影响的亲属。
结论
这些结果为遗传疾病研究中心对前200个家庭进行基因分型提供了背景信息。我们将分析前200个家庭的连锁情况，完成大约400个家庭的全部招募，然后对整个队列进行最终的连锁分析。DNA、基因型和表型将形成一个由NIMH维护的全国饮食失调知识库，供合格的研究人员使用。
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