We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 × 10-7; OR = 0.7; 95% confidence interval (CI) = 0.61-0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. Multiple SNPs in LD with the variant support the nominal association. This demonstrates that although the clinical and etiologic heterogeneity of AN is universally recognized, further careful sub-typing of cases may provide more precise genomic signals. In this study, through a refinement of the phenotype spectrum of AN, we present a replicable GWAS signal that is nominally associated with AN, highlighting a potentially important candidate locus for further investigation.

译文

:我们使用严格定义的表型进行了神经性厌食症(AN)的全基因组关联研究(GWAS)。对表型变异性的分析导致鉴定出一种接近全基因组重要性的特定遗传危险因素(EBF1中的rs929626(早期B细胞因子1); P = 2.04×10-7; OR = 0.7; 95%置信区间( CI)= 0.61-0.8)具有独立复制(P = 0.04),表明瘦素信号传导的变体介导的失调可能在AN中起作用。 LD中带有变体的多个SNP支持名义关联。这表明,尽管AN的临床和病因学异质性得到了普遍认可,但对病例进行进一步的仔细分型可能会提供更精确的基因组信号。在这项研究中,通过完善AN的表型谱,我们提出了名义上与AN相关的可复制GWAS信号,突出了潜在的重要候选基因座,需要进一步研究。

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