Abdulkadir Mohamed, Larsen Janne Tidselbak, Clausen Loa, Hübel Christopher, Albiñana Clara, Thornton Laura M, Vilhjálmsson Bjarni J, Bulik Cynthia M, Yilmaz Zeynep, Petersen Liselotte Vogdrup
National Centre for Register-based Research, Aarhus University, Aarhus, Denmark.
Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Aarhus University, Aarhus, Denmark.
medRxiv. 2024 Sep 8:2024.09.05.24313142. doi: 10.1101/2024.09.05.24313142.
Eating disorders (EDs) are serious psychiatric disorders with an estimated 3.3 million healthy life-years lost worldwide yearly. Understanding the course of illness, diagnostic transitions and remission, and their associated genetic correlates could inform both ED etiology and treatment. The authors investigated occurrences of ED transitions and presumed remission and their genetic correlates as captured by polygenic scores (PGSs) in a large Danish register-based cohort.
The sample compromised of 10,565 individuals with a diagnosis of anorexia nervosa (AN), bulimia nervosa (BN), or eating disorder not otherwise specified (EDNOS) with at least two registered hospital contacts between 1995 and 2018. Based on medical records, occurrence of diagnostic transitions and periods of presumed remission were identified. Associations between 422 PGS and diagnostic transitions and presumed remission were evaluated using Cox proportional hazard models.
A minority of ED cases (14.1%-23.1%) experienced a diagnostic transition. Presumed remission ranged between 86.9%-89.8%. Higher (one SD increase) PGS for major depressive disorder and multisite chronic pain were positively associated with transitioning from AN to either BN or EDNOS. Higher PGS on a measure of body fat percentage and financial difficulties were positively associated with presumed remission from AN. Higher PGS for mood swings was positively associated with presumed remission from EDNOS whereas higher PGS for health rating showed the opposite.
The authors found that most ED patients did not experience diagnostic transitions but were more likely to experience a period of presumed remission. Both diagnostic transitions and presumed remission have significant polygenic component.
饮食失调（EDs）是严重的精神疾病，全球每年估计有330万个健康生命年损失。了解疾病进程、诊断转变和缓解情况及其相关的遗传关联，可为饮食失调的病因和治疗提供依据。作者在一个基于丹麦大型登记队列中，研究了饮食失调转变和假定缓解的发生率及其多基因分数（PGS）所反映的遗传关联。
样本包括10565名被诊断为神经性厌食症（AN）、神经性贪食症（BN）或未另行规定的饮食失调（EDNOS）的个体，他们在1995年至2018年间至少有两次住院记录。根据病历确定诊断转变的发生情况和假定缓解期。使用Cox比例风险模型评估422个多基因分数与诊断转变和假定缓解之间的关联。
少数饮食失调病例（14.1%-23.1%）经历了诊断转变。假定缓解率在86.9%-89.8%之间。重度抑郁症和多部位慢性疼痛的多基因分数较高（增加一个标准差）与从神经性厌食症转变为神经性贪食症或未另行规定的饮食失调呈正相关。身体脂肪百分比测量和经济困难方面的多基因分数较高与神经性厌食症的假定缓解呈正相关。情绪波动的多基因分数较高与未另行规定的饮食失调的假定缓解呈正相关，而健康评分的多基因分数较高则显示出相反的情况。
作者发现，大多数饮食失调患者没有经历诊断转变，但更有可能经历一段假定缓解期。诊断转变和假定缓解都有显著的多基因成分。
