CAJ | 학술논문

目的:分析儿童蛋白酪氨酸磷酸酶1B(PTP1B)基因IVS6+G82A与Pro303Pro多态性分布特征,探讨IVS6+G82A与Pro303Pro遗传多态性在儿童单纯性肥胖发病机制中的作用. 方法:随机抽取147例肥胖儿童及118例健康儿童,应用聚合酶链反应限制性片段长度多态性(polymerase chain reaction restriction fragment length polymorphism, PCR-RFLP)方法检测PTP1B基因IVS6+G82A与Pro303Pro多态性.同时检测腰围(waist circumference, WC)、腰臀比(waist to hip ratio, WHR)、体脂百分比(percentage of body fat, %BF)、收缩压(systolic blood pressure, SBP)、舒张压(diastolic blood pressure, DBP)、空腹血糖(fasting plasma glucose, FPG)、血清甘油三酯(serum triglycerides, TG)、总胆固醇(total cholesterol, TC)、高密度脂蛋白胆固醇(high density lipoprotein cholesterol, HDL-C)、低密度脂蛋白胆固醇(low density lipoprotein cholesterol, LDL-C)、空腹胰岛素水平(plasma fasting insulin, FINS)、稳态模型胰岛素抵抗指数(homeostasis model assessment for insulin resistance, HOMA IR)和瘦素水平. 结果:PTP1B基因IVS6+G82A与Pro303Pro多态性发生频率健康儿童分别为53.4%与11.0%, 肥胖儿童分别为59.5%与19.4%.肥胖儿童PTP1B基因IVS6+G82A多态性与健康儿童差异无统计学意义,且该位点突变与肥胖儿童临床指标无明显相关性.肥胖儿童PTP1B基因Pro303Pro多态性与健康儿童相比,基因型分布与等位基因频率均差异有统计学意义,并且其多态性与体质量指数, WC, TG和LDL C水平有关.IVS6+G82A与Pro303Pro连锁不平衡分析显示两位点间连锁不平衡很弱(D′: 0.441, r2: 0.027). 结论:PTP1B基因IVS6+G82A变异与儿童单纯性肥胖无明显相关性,而Pro303Pro变异可能与儿童单纯性肥胖相关,且影响肥胖儿童的脂质代谢.
목적:분석인동단백락안산린산매1B(PTP1B)기인IVS6+G82A여Pro303Pro다태성분포특정,탐토IVS6+G82A여Pro303Pro유전다태성재인동단순성비반발병궤제중적작용. 방법:수궤추취147례비반인동급118례건강인동,응용취합매련반응한제성편단장도다태성(polymerase chain reaction restriction fragment length polymorphism, PCR-RFLP)방법검측PTP1B기인IVS6+G82A여Pro303Pro다태성.동시검측요위(waist circumference, WC)、요둔비(waist to hip ratio, WHR)、체지백분비(percentage of body fat, %BF)、수축압(systolic blood pressure, SBP)、서장압(diastolic blood pressure, DBP)、공복혈당(fasting plasma glucose, FPG)、혈청감유삼지(serum triglycerides, TG)、총담고순(total cholesterol, TC)、고밀도지단백담고순(high density lipoprotein cholesterol, HDL-C)、저밀도지단백담고순(low density lipoprotein cholesterol, LDL-C)、공복이도소수평(plasma fasting insulin, FINS)、은태모형이도소저항지수(homeostasis model assessment for insulin resistance, HOMA IR)화수소수평. 결과:PTP1B기인IVS6+G82A여Pro303Pro다태성발생빈솔건강인동분별위53.4%여11.0%, 비반인동분별위59.5%여19.4%.비반인동PTP1B기인IVS6+G82A다태성여건강인동차이무통계학의의,차해위점돌변여비반인동림상지표무명현상관성.비반인동PTP1B기인Pro303Pro다태성여건강인동상비,기인형분포여등위기인빈솔균차이유통계학의의,병차기다태성여체질량지수, WC, TG화LDL C수평유관.IVS6+G82A여Pro303Pro련쇄불평형분석현시량위점간련쇄불평형흔약(D′: 0.441, r2: 0.027). 결론:PTP1B기인IVS6+G82A변이여인동단순성비반무명현상관성,이Pro303Pro변이가능여인동단순성비반상관,차영향비반인동적지질대사.
Objective To investigate the distribution characteristics of protein tyrosine phosphatase 1B (PTP1B) gene IVS6+G82A and Pro303Pro polymorphisms in Chinese children and determine the effect of PTP1B gene IVS6+G82A and Pro303Pro polymorphisms on the pathogenesis of childhood obesity. Methods A total of 147 Chinese obese and 118 healthy children were randomly selected and enrolled to identify IVS6+G82A and Pro303Pro genotypes by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay. Waist circumference (WC), waist to hip ratio (WHR), percentage of body fat (%BF),systolic blood pressure (SBP), diastolic blood pressure (DBP), fasting plasma glucose (FPG), serum triglycerides (TG), total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), plasma fasting insulin (FINS), homeostasis model assessment for insulin resistance (HOMA-IR), and plasma leptin were examined. Results The allele frequencies of IVS6+G82A and Pro303Pro were 59.5% and 19.4% in obese children, and 53.4% and 11.0% in healthy children, respectively. There were significant differences in allele frequencies of Pro303Pro polymorphism between the obese and the control group. Pro303Pro polymorphism was associated with body mass index, WC, TG, and LDL C in the obese subjects. There was not di fference in the genotype distributions or allele frequencies of IVS6+G82A polymorphism between the obese and the control group. Further analysis showed no association between the genotypes of IVS6+G82A and clinical characteristics in the obese subjects. The linkage disequilibrium analysis for IVS6+G82A and Pro303Pro (D′: 0.441, r2: 0.027) was weak.Conclusion PTP1B gene Pro303Pro polymorphism might be associated with the pathogenesis of obesity in children and could affect the lipid metabolism in Chinese obese children.