The Genetics of Anorexia Nervosa: Current Findings and Future Perspectives.

Andrea Poyastro Pinheiro, Tammy Root, Cynthia M Bulik
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Abstract

Anorexia nervosa is a perplexing illness with the highest mortality rate of any psychiatric disease. In this paper, we review the genetic research on anorexia nervosa (AN). Family studies have demonstrated that anorexia nervosa is familial, and twin studies have indicated that additive genetic factors contribute to the familial aggregation. Molecular genetic research, including genomewide linkage and case control association studies, have not been successful in identifying DNA variants that are unequivocally involved in the etiology of AN. We provide a critical appraisal of these studies and discuss methodological issues that may be implicated in conflicting results. Furthermore, we discuss issues relevant to genetic research such as the importance of phenotypic refinement, the use of endophenotypes, and the implications for nosology and genetic analysis. Finally, the future of genetic research for AN is discussed in terms of genomewide association studies (GWAS) and the need for establishing large samples.

神经性厌食症的遗传学:目前的发现和未来的展望。
神经性厌食症是一种令人困惑的疾病,在所有精神疾病中死亡率最高。本文就神经性厌食症(anorexia neurovosa, AN)的基因研究进展进行综述。家庭研究表明,神经性厌食症是家族性的,双胞胎研究表明,累加性遗传因素有助于家族聚集。分子遗传学研究,包括全基因组连锁和病例对照关联研究,尚未成功地鉴定出与AN病因明确相关的DNA变异。我们对这些研究进行了批判性的评估,并讨论了可能与相互矛盾的结果有关的方法问题。此外,我们还讨论了与遗传研究相关的问题,如表型改良的重要性、内表型的使用以及对病分学和遗传分析的影响。最后,从全基因组关联研究(GWAS)和建立大样本的需要方面讨论了AN遗传研究的未来。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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