Voll Sarah L, Boot Erik, Butcher Nancy J, Cooper Samantha, Heung Tracy, Chow Eva W C, Silversides Candice K, Bassett Anne S
MD Program, University of Toronto, Faculty of Medicine, Toronto, Ontario, Canada.
Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
Genet Med. 2017 Feb;19(2):204-208. doi: 10.1038/gim.2016.98. Epub 2016 Aug 18.
To characterize the prevalence of and contributing factors to adult obesity in the most common recurrent copy-number variation (CNV), 22q11.2 deletion, given that other rare CNVs are known to have obesity phenotypes.
In 207 adults with 22q11.2 deletion syndrome (22q11.2DS), we used available height and weight measurements to calculate body mass index (BMI) and recorded associated factors that could play a role in obesity. We used the maximum BMI per subject and logistic regression to test a model predicting obesity class.
The prevalence of obesity (BMI ≥30) in 22q11.2DS (n = 90, 43.5%; at median age of 26.7 years) was significantly greater than for Canadian norms (odds ratio (OR) 2.30, 95% confidence interval (CI) = 1.74-3.02, P < 0.0001), even after excluding individuals with a history of antipsychotic use. The regression model was significant (P < 0.0001). Psychotropic medication use and age, but not sex or presence of intellectual disability, were associated with higher obesity level. Ten (4.8%) individuals were diagnosed with type 2 diabetes at a median age of 39.5 years; the prevalence was higher in those with obesity (P < 0.01).
The results suggest that adult obesity is related to the 22q11.2 deletion. The findings expand the potential genetic causes of obesity and have important implications for management of 22q11.2DS.Genet Med 19 2, 204-208.
鉴于已知其他罕见的拷贝数变异（CNV）具有肥胖表型，本研究旨在描述最常见的复发性拷贝数变异22q11.2缺失中成人肥胖的患病率及其影响因素。
在207例患有22q11.2缺失综合征（22q11.2DS）的成人中，我们利用现有的身高和体重测量数据计算体重指数（BMI），并记录可能与肥胖有关的因素。我们采用每位受试者的最高BMI值和逻辑回归分析来检验预测肥胖等级的模型。
22q11.2DS患者（n = 90，43.5%；中位年龄26.7岁）的肥胖患病率（BMI≥30）显著高于加拿大正常水平（优势比（OR）2.30，95%置信区间（CI）= 1.74 - 3.02，P < 0.0001），即使排除有抗精神病药物使用史的个体后仍是如此。回归模型具有统计学意义（P < 0.0001）。使用精神药物和年龄与较高的肥胖水平相关，而性别和智力残疾的存在与肥胖水平无关。10例（4.8%）个体在中位年龄39.5岁时被诊断为2型糖尿病；肥胖患者中的患病率更高（P < 0.01）。
结果表明成人肥胖与22q11.2缺失有关。这些发现扩展了肥胖的潜在遗传原因，对22q11.2DS的管理具有重要意义。《遗传医学》19卷2期，204 - 208页。
