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[UCP2基因-866G/A多态性对肥胖儿童群体的影响]

[Influence of the -866G/A polymorphism of the UCP2 gene on an obese pediatric population].

作者信息

Zurbano R, Ochoa M C, Moreno-Aliaga M J, Martínez J A, Marti A

机构信息

Departamento de Fisiología y Nutrición, Universidad de Navarra, Pamplona, España.

出版信息

Nutr Hosp. 2006 Jan-Feb;21(1):52-6.

Abstract

OBJECTIVE

In the present study, our objectives were to evaluate the prevalence of -866G/A mutation of UCP2 gene and to study its influence on the phenotype of obese children (11-12 years old) from Navarra. BACKGROUND AND STUDY SETTING: Obesity is a disease with a multifactorial origin that may related be to the presence of mutations and polymorphisms in several candidate genes. The gene of the uncoupling protein UCP2 is one of the most studied ones in relation to obesity because it seems to participate in body composition and several metabolic processes control. Three polymorphisms have been described for this gene: an insertion/deletion of 45 nucleotides, a nucleotide change of guanine for adenine in -866 position, an another change that replaces alanine for valine at amino acid position 55. According to several studies, the -866G allele is related to an increased risk of developing obesity, although the results are contradictory about this association in the literature.

SUBJECTS

The study was carried out on 125 obese children (52% male), aged 11-12 years, selected through the Pediatric Endocrinology Departments of Clínica Universitaria and Hospital Virgen del Camino of Pamplona (Spain), the reported results on this association are contradictory.

INTERVENTIONS

After checking the inclusion criteria, anthropometrical data (weight, height, BMI, tricipital and subscapular skinfolds) were taken, and the percentage of fat mass was measured by bioelectrical impedance. Besides, plasma levels of total cholesterol, glucose, insulin, and leptin were measured. DNA was extracted from white blood cells to determine the genotype by PCR technique followed by BstUI digestion and further visualization in agarose gel with 2% ethidium bromide.

RESULTS

The genetic analysis revealed a 0.404 frequency of the allele A, with a percentage of individuals G/G, G/A, and A/A of 40.0%, 39.2%, and 20.8%, respectively. Carriers of the A allele had a significantly higher sum of tricipital and subscapular folds (p = 0.034). No significant differences between mutant and non-mutant subjects with regard to the studied biochemical variables were observed.

CONCLUSIONS

Subjects carrying the polymorphism present higher values of tricipital and subscapular skinfolds as compared to non-mutant subjects, which may indicate a relationship between the presence of the A allele in obese children and higher amounts of subcutaneous fat.

摘要

目的

在本研究中,我们的目的是评估解偶联蛋白2(UCP2)基因-866G/A突变的患病率,并研究其对来自纳瓦拉的11至12岁肥胖儿童表型的影响。背景与研究环境:肥胖是一种多因素起源的疾病,可能与多个候选基因中的突变和多态性有关。解偶联蛋白UCP2基因是与肥胖相关研究最多的基因之一,因为它似乎参与身体组成和多个代谢过程的控制。该基因已被描述有三种多态性:45个核苷酸的插入/缺失、-866位置鸟嘌呤被腺嘌呤取代的核苷酸变化以及氨基酸位置55处丙氨酸被缬氨酸取代的另一种变化。根据多项研究,-866G等位基因与肥胖发生风险增加有关,尽管文献中关于这种关联的结果相互矛盾。

研究对象

本研究对125名11至12岁的肥胖儿童(52%为男性)进行,这些儿童通过西班牙潘普洛纳大学临床医院和卡米诺圣母医院的儿科内分泌科选取,关于这种关联的报道结果相互矛盾。

干预措施

在检查纳入标准后,记录人体测量数据(体重、身高、体重指数、三头肌和肩胛下皮褶厚度),并通过生物电阻抗测量脂肪量百分比。此外,测量总胆固醇、葡萄糖、胰岛素和瘦素的血浆水平。从白细胞中提取DNA,通过聚合酶链反应(PCR)技术,随后进行BstUI酶切,并在含2%溴化乙锭的琼脂糖凝胶中进一步可视化来确定基因型。

结果

基因分析显示等位基因A的频率为0.404,基因型为G/G、G/A和A/A的个体百分比分别为40.0%、39.2%和20.8%。A等位基因携带者的三头肌和肩胛下皮褶厚度总和显著更高(p = 0.034)。在研究的生化变量方面,突变型和非突变型受试者之间未观察到显著差异。

结论

与非突变型受试者相比,携带该多态性的受试者三头肌和肩胛下皮褶厚度值更高,这可能表明肥胖儿童中A等位基因的存在与皮下脂肪量增加之间存在关联。

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