基因拷贝数变异与汉、维、哈三民族儿童超重/肥胖患病风险之间的关联研究

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。

Association between copy number variations and risk of overweight/obesity among Han,Uyghur,and Kazak children

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.