目的 探讨维生素D受体(vitamin D receptor,VDR)基因rs731236单核苷酸多态性与新疆汉族、哈萨克族超重/肥胖学龄期儿童之间的相关性。方法 对新疆伊犁地区250例(汉族127例,哈萨克族123例)7~12岁超重/肥胖学龄期儿童及255例(汉族131例,哈萨克族124例)健康对照学龄期儿童,采用聚合酶链反应-限制性片段长度多态方法检测VDR基因rs731236多态性分布。结果 1.汉族与哈萨克族健康学龄期儿童间的基因型频率差异有统计学意义(χ^2=9.904,P =0.005),等位基因频率差异亦有统计学意义(χ^2=9.312,P =0.002)。2.哈萨克族病例组与对照组儿童间的 TT/Tt+tt基因型频率差异有统计学意义(χ^2=3.891,P =0.049),等位基因频率差异亦有统计学意义(χ^2=5.871,P =0.015);但汉族病例组与对照组儿童间的基因型和等位基因频率差异均无统计学意义(χ^2=0.064,P =0.800;χ^2=0.19,P =0.663)。3.哈萨克族病例组与对照组男童间的TT/Tt+tt基因型和等位基因频率差异有统计学意义(χ^2=5.25,P =0.02;χ^2=4.57,P =0.03),女童差异无统计学意义(χ^2=0.06,P =0.80;χ^2=1.40,P =0.24);汉族病例组与对照组女童间的TT/Tt+tt基因型和等位基因频率差异无统计学意义(χ^2=0.04,P =0.84;χ^2=0.04,P =0.84),男童差异亦无统计学意义(χ^2=0.05,P =0.82;χ^2=0.18,P =0.67)。结论 VDR基因rs731236多态性存在民族差异,VDR基因rs731236多态性与新疆伊犁地区汉族学龄超重/肥胖儿童无明显相关性,而与哈萨克族学龄超重/肥胖儿童的发生具有相关性,尤其是男童。
Objective To evaluate the relationship between vitamin D receptor(VDR) (rs731236) single nucleotide polymorphisms and genetic susceptibility to overweight/obesity in school -age children of Han and Kazakh in Xinjiang Uygur Autonomous Region. Methods The VDR gene rs731236 genotypes were detected by using polymerase chain reaction -restriction fragment length polymorphism method in 250 overweight/obesity school -age children (127 Han,123 Kazakh) and 255 healthy controls(131 Han,124 Kazakh) as well, Results (1)There were statistically significant differences in the frequencies of rs731236 genotypes and alleles between the healthy controls of Han and Kazakh (χ^2= 9. 904,P = 0. 005 ; X2 = 9.312, P = 0. 002 ). ( 2 ) There were statistically significant differences in the frequencies of TT/Tt + tt genotype and the alleles between the overweight/obesity cases and healthy controls of Kazakh (χ^2=3. 891 ,P =0.049; χ^2 =5. 871 ,P =0. 015). But the difference in frequencies of rs731236 genotypes and alleles between the overweight/obesity cases and controls of Hart were not statistically significant (χ^2 = 0. 064 ,P = 0. 800 ; χ^2 = 0. 190, P = 0. 663 ). (3) There were statistically significant differences in the frequencies of TT/Tt + tt genotype and alle|es between the overweight/obesity cases and healthy controls of male school - age children of Kazakh (χ^2= 5.25, P = 0.02 ; χ^2 = 4.57, P = 0.03 ), but the differences in frequencies of rs731236 genotypes and alleles between the over- weight/obesity cases and controls were not statistically significant in female school - age children of Kazakh (χ^2 = 0. 06,P =0.80; χ^2 = 1.40,P =0.24). There was no statistically significant difference in the frequencies of TI'/Tt + tt genotype and alleles between the overweight/obesity cases and healthy controls of female school - age children of Han (χ^2= 0.04, P = 0.84 ; χ^2 = 0.04, P = 0.84 ) , and there was no statistically significant difference in male. school -