Objective: To study the association between the prevalence of overweight/obesity and copy number variations (CNVs) among Han, Uyghur, and Kazak children in Xinjiang, China.
Methods: The kindergartens in Ili, Altay, and Karamay in Xinjiang were selected as research sites, and stratified cluster sampling was used to select the children aged 3-7 years. Body height and body weight were measured, and exfoliated buccal mucosa cells were collected. CNVplex® was used to measure the CNVs of FTO_1, IRX3_1, IRX3_2, MC4R_1, and MC4R_2.
Results: A total of 603 children were surveyed (307 boys and 296 girls). There were 261 Han children, 194 Uyghur children, and 148 Kazak children. The overweight/obesity rates in Han, Uyghur, and Kazak children were 28.3%, 10.3%, and 31.1%, respectively (P<0.001). In Kazak children, the CNVs of IRX3_1 and MC4R_2 were associated with overweight/obesity (P<0.05). The multivariate logistic regression analysis showed that the risk of overweight/obesity in Han and Kazak children was 3.443 times (95%CI: 2.016-5.880) and 3.924 times (95%CI: 2.199-7.001), respectively, that in Uyghur children. The CNV of IRX3_1 was a risk factor for overweight/obesity (P=0.028, OR=2.251, 95%CI: 1.418-5.651).
Conclusions: The CNV of IRX3_1 is associated with overweight/obesity in Han, Uyghur, and Kazak children, and the association between the CNV of IRX3_1 and overweight/obesity in Kazak children should be taken seriously.
目的: 了解新疆汉族、维吾尔族（简称维族）、哈萨克族（简称哈族）儿童超重/肥胖患病情况与基因拷贝数变异（CNV）之间的关系。
方法: 以新疆伊犁、阿勒泰和克拉玛依3个城市中的幼儿园作为研究现场，采用分层整群抽样方法抽取3~7岁儿童，测量身高、体重并采集口腔黏膜脱落细胞，采用CNVplex®方法检测FTO_1、IRX3_1、IRX3_2、MC4R_1、MC4R_2等5个位点CNV。
结果: 调查儿童603名，其中男307名，女296名；汉族261名，维族194名，哈族148名。汉族、维族、哈族儿童超重/肥胖率分别为28.3%、10.3%、31.1%（P < 0.001）。在哈族儿童中，IRX3_1、MC4R_2两位点CNV与超重/肥胖相关（P < 0.05）。多因素logistic回归分析显示，汉族和哈族儿童发生超重/肥胖的风险分别是维族儿童的3.443倍（95%CI：2.016~5.880）和3.924倍（95%CI：2.199~7.001）；IRX3_1位点CNV是超重/肥胖的危险因素（P=0.028，OR=2.251，95%CI：1.418~5.651）。
结论: IRX3_1 CNV与汉族、维族、哈族儿童超重/肥胖的患病风险有关，尤其应关注哈族儿童中IRX3_1 CNV与超重/肥胖之间的关联性。