Identification of susceptibility genes of Anorexia Nervosa by GWAS

尽管神经性厌食症（AN）具有很高的遗传性，但在人类基因组中尚未找到致病基因。我们尝试使用全外显子测序（外显子组分析）来鉴定AN家族的致病基因。该分析发现罕见的变异产生氨基酸替代，并与受影响的个体共享。此外，AN的致病变异可能在神经递质受体基因上积累。其中，一种罕见的变异有望影响蛋白质之间的相互作用。家族基因的其他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.