NFKB1基因启动子区-94ins/del ATTG多态性在新疆汉族和维吾尔族及哈萨克族人群中的分布特征及其与血脂的关系

摘要

Objective To explore the distribution characteristics of NFKB1 gene promoter region - 94ins/ del ATTG polymorphism and its association with blood lipid level in Han,Uygur and Kazak peoples in Xinjiang. Methods 604 Han,585 Uygur and 566 Kazak Peoples in Urumqi,Fuhai,Turpan,Ili,Karamay,Khotan and Fukang were selected from 2008 to 2010 by using cluster random sampling. The general data,including height,body mass,smoking and drinking were collected,and the body mass index(BMI)was calculated. The levels of TC,TG,HDL - C,LDL - C and Glu were determined. 3 ml pe-ripheral venous blood was collected from each subject,and by using real - time fluorescent quantitative PCR method,the NFKB1 gene promoter region - 94ins/ del ATTG polymorphism was detected,and distribution characteristics of the polymorphism was ana-lyzed in different levels of blood lipid. Results The sex,age and Glu among the three peoples showed no statistically significant difference(P > 0. 05). The BMI,TC,TG,HDL - C,LDL - C,smoking rate and drinking rate among the three peoples showed statistically significant differences(P < 0. 05). The genotype distribution among the three peoples showed statistically significant difference(χ2 = 12. 062,P < 0. 05). The genotype frequency of del/ del in Kazak peoples was lower than that in Han and Uygur peoples(χ2 = 11. 986,P < 0. 01). The allele frequency of del among the three peoples showed statistically signifi-cant difference(P < 0. 05). The comparison between the del allele carriers(ins/ del + del/ del,ID + DD)with abnormal blood lipid level and with normal blood lipid(ID + DD)showed that there was no statistically significant difference of ID + DD geno-type frequency between peoples with abnormal TG,TC,HDL - C and normal TG,TC,HDL - C among the three peoples(P >0. 05). The Han peoples with high level LDL - C had higher genotype frequency than those with abnormal LDL - C(χ2 = 4. 763, P < 0. 05). Logistic regression analysis showed that del allele carrying type,age,TG and HDL - C were factors influencing high level LDL - C among Han peoples. Conclusion The frequencies of NFKB1 gene promoter region - 94ins/ del ATTG polymor-phism are different among Han,Uygur and Kazak Peoples in Xinjiang. The polymorphism may be associated with the high levels of LDL - C in the Han peoples,and del allele may be a risk factor in Han peoples with the high levels of LDL - C.%目的：探讨 NFKB1基因启动子区-94ins/ del ATTG 多态性在新疆汉族、维吾尔族及哈萨克族人群中的分布特征及其与血脂的关系。方法采用整群随机抽样方法，于2008-2010年选择新疆乌鲁木齐、福海、吐鲁番、伊犁、克拉玛依、和田、阜康等7个地区共26个乡镇，选取汉族人群604名，维吾尔族585名及哈萨克族566名。收集受试者一般资料，包括身高、体质量、吸烟、饮酒情况，并计算体质指数（ BMI）。统一测定受试者血清总胆固醇（TC）、三酰甘油（TG）、高密度脂蛋白胆固醇（HDL - C）、低密度脂蛋白胆固醇（LDL - C）、血清葡萄糖（Glu）水平。采集受试者外周静脉血3 ml，采用实时荧光定量 PCR 方法，检测其 NFKB1基因启动子区-94ins/ del ATTG 多态性，并分析不同血脂水平组中该基因多态性的分布差异。结果三民族性别、年龄、Glu 比较，差异均无统计学意义（P >0.05）；三民族 BMI、TC、TG、HDL - C、LDL - C、吸烟率及饮酒率比较，差异有统计学意义（P <0.05）。三民族基因型分布比较，差异有统计学意义（χ2=12.062，P <0.05）。哈萨克族 del/ del 基因型频率均低于汉族和维吾尔族（χ2=11.986，P <0.01）。三民族 del 等位基因频率比较，差异有统计学意义（P <0.05）。将汉族、维吾尔族和哈萨克族异常血脂组中 del 等位基因携带者（ins/ del 型+ del/ del 型，ID + DD 型）与血脂正常组中 ID + DD 型者分布频率比较，结果显示，三民族高 TG 血症组和 TG 正常组、高 TC 血症组和 TC 正常组、低 HDL - C 血症组和 HDL - C 正常组EBC 中 ID + DD 型频率比较，差异均无统计学意义（P >0.05）；汉族高 LDL - C 血症组 ID + DD 型频率高于 LDL - C 正常组（χ2=4.763，P <0.05）。多因素 Logistic 回归分析结果显示，携带 del 等位基因、年龄、TG、HDL - C 为汉族人群患有高 LDL - C 血症的影响因素（P <0.05）。结论 NFKB1基因启动子区-94ins/ del ATTG 多态性分布频率在新疆汉族、维吾尔族、哈萨克族间存在差异；该基因多态性与汉族人群发生高 LDL - C 血症相关，del 等位基因可能是汉族人群患高 LDL - C 血症的一个危险因素。