配对盒4基因R192S、R192H多态性与儿童青少年肥胖的研究

发布时间：2018-06-28 19:53

本文选题：肥胖 + 配对盒基因　；参考：《临床儿科杂志》2017年12期

【摘要】：目的研究配对盒4(PAX4)基因rs3824004(574CA;R192S)、rs2233580(575GA;R192H)多态性与儿童青少年肥胖及代谢指标的相关性。方法随机选取103例肥胖儿童,平均年龄(10.82±2.57)岁,体质指数(BMI)(26.82±4.57)kg/m2;同期体检的100例正常体质量儿童为对照组,年龄(10.60±2.84)岁,BMI(16.79±2.13)kg/m2。测量并比较两组血压、体格指标以及血代谢指标。肥胖组儿童行口服葡萄糖耐量试验(OGTT)和胰岛素释放试验,计算稳态模型胰岛素抵抗指数(HOMA-IR)和总体胰岛素敏感指数(WBISI)。应用聚合酶链反应(PCR)检测PAX4 rs3824004、rs 2233580多态性,分析多态位点的等位基因频率和基因型频率及组间差异,以及不同基因型与代谢指标的相关性。结果肥胖组的身高、体质量、BMI、收缩压、舒张压、腰围、臀围、腰围身高比(WHt R)、空腹血糖(FPG)、总胆固醇(TC)、低密度脂蛋白(LDL)、三酰甘油(TG)、丙氨酸转氨酶(ALT)及天冬氨酸转氨酶(AST)均高于对照组,高密度脂蛋白(HDL)低于对照组;差异均有统计学意义(P0.05)。基因分布频率符合Hard-Weinberg平衡,rs3824004肥胖组和对照组的A等位基因频率分别为4.9%和5.0%,CA基因型频率分别为9.7%和10.0%;两组差异均无统计学意义(P0.05)。rs 2233580肥胖组的GA基因型频率为25.2%,高于对照组(11.0%);A等位基因频率为12.6%,也高于对照组(5.5%),差异均有统计学意义(P0.05)。rs2233580 GA基因型的BMI及腰围高于GG基因型,差异均有统计学意义(P0.05),但logistic回归分析显示PAX 4 rs 2233580基因型与代谢指标并无相关性(P均0.05)。肥胖组PAX 4 rs 2233580不同基因型间HOMA-IR和WBISI差异无统计学意义(P均0.05)。结论 PAX 4 rs 2233580影响BMI及腰围,可能参与儿童肥胖的发生,但不是儿童青少年肥胖发生的独立影响因素。
[Abstract]:Objective to study the association between polymorphism of pairing box 4 (PAX4) gene rs3824004 (574CAR19s) rs2233580 (575GAANGR19H) and obesity and metabolism in children and adolescents. Methods 103 obese children with average age of (10.82 卤2.57) years and BMI (BMI) of (26.82 卤4.57) kg / m ~ (2) were randomly selected as control group, and 100 healthy children with BMI (16.79 卤2.13) kg 路m ~ (2) of age (10.60 卤2.84) years were selected as control group. Blood pressure, physical parameters and blood metabolism were measured and compared between the two groups. Oral glucose tolerance test (OGTT) and insulin release test were performed in obese children. The homeostasis model insulin resistance index (HOMA-IR) and total insulin sensitivity index (WBISI) were calculated. The polymorphism of PAX4 rs3824004 rs3824004rrs 2233580 was detected by polymerase chain reaction (PCR). The allelic frequency, genotypic frequency and differences among groups of polymorphic loci were analyzed, as well as the correlation between different genotypes and metabolic indexes. Results the height, body mass, systolic blood pressure, diastolic blood pressure, waist circumference, hip circumference of obesity group, The waistline height ratio (WHTR), fasting blood glucose (FPG), total cholesterol (TC), low density lipoprotein (LDL), triglyceride (TG), alanine aminotransferase (alt) and aspartate aminotransferase (AST) were higher than those in the control group, and high density lipoprotein (HDL) was lower than the control group (P0.05). The frequencies of A allele in the obese group and control group were 4.9% and 5.0%, respectively, and the frequencies of CA genotype were 9.7% and 10.0, respectively. There was no significant difference between the two groups (P0.05). In the control group (11.0%), the allele frequency was 12.6%, which was higher than that in the control group (5.5%). The difference was statistically significant (P0.05). The BMI and waist circumference of the GA genotype was higher than that of the GG genotype. The difference was statistically significant (P0.05), but the logistic regression analysis showed that there was no correlation between the genotype of PAX4rs 2233580 and the metabolic index (P0. 05). There was no significant difference in HOMA-IR and WBISI between different genotypes of PAX4 rs 2233580 in obese group (P 0.05). Conclusion PAX4rs 2233580 may play an important role in the development of obesity in children, but it is not an independent factor of obesity in children and adolescents.
【作者单位】：浙江大学医学院附属第一医院儿科;
【基金】：国家自然科学基金面上项目(No.11571309) 国家重点研发计划重大慢性非传染性疾病防控研究(No.2016YFC1305301)
【分类号】：R723.14

【相似文献】