Jaspers Faijer-Westerink Hester, von Scheibler Emma N M M, van Rossum Elisabeth F C, van Haelst Mieke M, Vingerhoets Claudia, van Amelsvoort Thérèse A M J, van Eeghen Agnies M, Boot Erik
Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands.
Koraal, Maastricht, The Netherlands.
Int J Obes (Lond). 2025 Apr;49(4):642-648. doi: 10.1038/s41366-024-01685-2. Epub 2024 Nov 30.
Copy number variations (CNVs) may contribute to medical conditions. However, research on the impact of individual CNVs on endocrine disease is limited. This study aimed to provide new data on obesity and metabolic syndrome (MetS) in adults with microdeletion 22q11.2, the pathogenic CNV associated with 22q11.2 deletion syndrome.
We examined prevalence rates of obesity and MetS in 103 adults with a typical 22q11.2 deletion (45.2% male, at median age 30.0 (range 17-71) years) and compared these rates with population-based data. Generalized obesity was defined by a body mass index (BMI) ≥ 30 kg/m, abdominal obesity by a waist circumference (WC) of ≥102 cm in males and ≥88 cm in females, and MetS by standard Joint Interim Statement criteria. General linear models were used to examine the independent associations of age, sex, congenital heart defect, smoking, and antipsychotic use with BMI, WC, and the presence of MetS.
Prevalence rates of generalized obesity (32.0%), abdominal obesity (51.5%), and MetS (33.0%) were significantly higher compared to a population-based cohort (15.7% (P < 0.0001), 36.1% (P = 0.002), and 15.2% (P < 0.0001), respectively). In antipsychotic naïve subjects, significant correlations were observed between age and BMI (r = 0.54, P < 0.001), and age and WC (r = 0.60, P < 0.001). These correlations were not present in individuals taking antipsychotic medication. The models predicting BMI (F(5, 97) = 3.083, R = 0.137, P = 0.01) and WC (F(5, 92) = 5.985, R = 0.245, P < 0.001) were significant. Only age was individually predictive of outcomes (P < 0.05 and P < 0.001). The model predicting MetS was also significant (P < 0.001), with higher age being the only factor associated with MetS (OR = 1.07, 95% CI = 1.03-1.12, P < 0.001).
Generalized and abdominal obesity, as well as MetS, appear to be common in adults with 22q11.2 deletion syndrome, emphasizing the importance of careful monitoring from a young age. These findings contribute to the limited knowledge about the association between pathogenic CNVs, obesity, and MetS.
拷贝数变异（CNV）可能与多种疾病相关。然而，关于个体CNV对内分泌疾病影响的研究有限。本研究旨在提供有关患有22q11.2微缺失（一种与22q11.2缺失综合征相关的致病性CNV）的成年人肥胖和代谢综合征（MetS）的新数据。
我们检查了103名患有典型22q11.2缺失的成年人（45.2%为男性，中位年龄30.0岁（范围17 - 71岁））的肥胖和MetS患病率，并将这些患病率与基于人群的数据进行比较。全身性肥胖定义为体重指数（BMI）≥30 kg/m²，男性腹围（WC）≥102 cm、女性≥88 cm为腹型肥胖，MetS根据标准联合临时声明标准定义。使用一般线性模型检查年龄、性别、先天性心脏病、吸烟和使用抗精神病药物与BMI、WC以及MetS存在之间的独立关联。
与基于人群的队列相比，全身性肥胖（32.0%）、腹型肥胖（51.5%）和MetS（33.0%）的患病率显著更高（分别为15.7%（P < 0.0001）、36.1%（P = 0.002）和15.2%（P < 0.0001））。在未使用抗精神病药物的受试者中，观察到年龄与BMI（r = 0.54，P < 0.001）以及年龄与WC（r = 0.60，P < 0.001）之间存在显著相关性。服用抗精神病药物的个体中不存在这些相关性。预测BMI（F(5, 97) = 3.083，R = 0.137，P = 0.0l）和WC（F(5, 92) = 5.985，R = 0.245，P < 0.001）的模型具有显著性。只有年龄可单独预测结果（P < 0.05和P < 0.001）。预测MetS的模型也具有显著性（P < 0.001），年龄较大是与MetS相关的唯一因素（OR = 1.07，95% CI = 1.03 - 1.12，P < 0.001）。
全身性和腹型肥胖以及MetS在患有22q11.2缺失综合征的成年人中似乎很常见，这强调了从年轻时就进行仔细监测的重要性。这些发现为关于致病性CNV、肥胖和MetS之间关联的有限知识做出了贡献。
