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肥胖、体重过轻或神经性厌食症儿童、青少年及年轻成人中β3-肾上腺素能受体等位基因分布情况

Beta 3-adrenergic-receptor allele distributions in children, adolescents and young adults with obesity, underweight or anorexia nervosa.

作者信息

Hinney A, Lentes K U, Rosenkranz K, Barth N, Roth H, Ziegler A, Hennighausen K, Coners H, Wurmser H, Jacob K, Römer G, Winnikes U, Mayer H, Herzog W, Lehmkuhl G, Poustka F, Schmidt M H, Blum W F, Pirke K M, Schäfer H, Grzeschik K H, Remschmidt H, Hebebrand J

机构信息

Department of Child and Adolescent Psychiatry, Universities of Marburg, Germany.

出版信息

Int J Obes Relat Metab Disord. 1997 Mar;21(3):224-30. doi: 10.1038/sj.ijo.0800391.

Abstract

OBJECTIVE

The missense mutation (64Trp to 64Arg) in the beta 3-adrenergic-receptor has previously been described to confer a genetic predisposition to the development of obesity.

DESIGN

To test the hypothesis we evaluated allele frequencies in children, adolescents and young adults who belonged to different weight groups that were delineated with percentiles for the body mass index (BMI; kg/m2).

SUBJECTS

99 underweight probands (BMI < or = 15th percentile). 80 normal weight probands (BMI: 5th-85th percentile). 238 obese children and adolescents (BMI > or = 97th percentile). 84 patients with anorexia nervosa (AN).

MEASUREMENTS

The cohorts were screened by polymerase chain reaction with subsequent restriction fragment length polymorphism (PCR-RFLP) analysis. Data were statistically analysed for association. In addition to these case control studies, the transmission disequilibrium test (TDT) was applied to 80 families of obese probands and to 52 families of patients with AN.

RESULTS

Both the tests for association and linkage were negative. The Trp64Arg allele frequencies in the three weight groups (obesity: 0.071; normal weight: 0.081; underweight: 0.056) and the AN patients (0.054) were similar. Extremely obese individuals showed no excess of the Trp64Arg allele. No homozygotes for the Trp64Arg allele were detected.

CONCLUSION

Heterozygosity for the Trp64Arg allele is not of major importance in regulation of body weight in individuals younger than 35 y. Additionally, the extreme obese subgroup is not enriched for the polymorphism.

摘要

目的

β3 - 肾上腺素能受体中的错义突变(64位色氨酸突变为64位精氨酸)先前已被描述为赋予肥胖发生的遗传易感性。

设计

为了验证这一假设,我们评估了不同体重组儿童、青少年和年轻人的等位基因频率,这些体重组通过体重指数(BMI;kg/m²)百分位数来划分。

研究对象

99名体重过轻的先证者(BMI≤第15百分位数)。80名正常体重的先证者(BMI:第5 - 85百分位数)。238名肥胖儿童和青少年(BMI≥第97百分位数)。84名神经性厌食症(AN)患者。

测量方法

通过聚合酶链反应及随后的限制性片段长度多态性分析(PCR - RFLP)对队列进行筛查。对数据进行统计学关联分析。除了这些病例对照研究外,还对80个肥胖先证者家庭和52个AN患者家庭应用了传递不平衡检验(TDT)。

结果

关联检验和连锁检验均为阴性。三个体重组(肥胖:0.071;正常体重:0.081;体重过轻:0.056)和AN患者(0.054)中Trp64Arg等位基因频率相似。极度肥胖个体未显示Trp​64Arg等位基因过量。未检测到Trp64Arg等位基因的纯合子。

结论

Trp64Arg等位基因的杂合性在35岁以下个体的体重调节中并非至关重要。此外,极端肥胖亚组中该多态性并未富集。

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