Identification of susceptibility genes of Anorexia Nervosa by GWAS

尽管神经性厌食症(AN)的遗传率很高，但在人类基因组中还没有确切的致病基因。我们试图用全外显子测序(外显子分析)来确定一个家系的致病基因。这项分析发现，罕见的变异产生了氨基酸的替代，并与受影响的个体共享。此外，神经递质的受体基因可能积累了致病变异。其中，一种罕见的变色剂有望影响蛋白质之间的相互作用。家族基因的更多变异和功能分析将是未来工作的先决条件。

Despite the high heritability of anorexia nervosa (AN), no causative gene has yet been pinpointed in the human genome. We tried to identify the causative genes in AN families using whole exon sequencing (exome analysis). This analysis found rare variants yielded substitution of amino acid and shared with affected individuals. Moreover, AN causative variants were likely to be accumulated at receptor genes for neurotransmitter. Of these, a rare varaint is expected to influence protein-protein interaction. Additional variants and functional analysis in the family genes will be prerequisite for future works.