智利家族的黑素皮质素 4 受体基因变异：与儿童肥胖和饮食行为的关联。
Melanocortin-4 receptor gene variants in Chilean families: association with childhood obesity and eating behavior.
机构信息
Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
出版信息
Nutr Neurosci. 2010 Apr;13(2):71-8. doi: 10.1179/147683010X12611460763643.
OBJECTIVE
To screen for mutations in the coding region of the melanocortin-4 receptor (MC4R) gene and to assess the association between the rs17782313 variant near MC4R with childhood obesity and eating behavior.
SUBJECTS AND METHODS
A cross-sectional sample of 221 obese Chilean children and 268 parents were incorporated in the study to assemble 134 case-parent trios. We performed direct sequencing of the MC4R coding region while the rs17782313 variant was genotyped by a Taqman assay. Eating behavior scores were calculated using the Child Eating Behavior and Three Factor Eating Questionnaires adapted for Chilean families.
RESULTS
A low frequency of genetic variation in the coding region of MC4R was found in Chilean obese children (Thr150Ile mutation and polymorphisms Ile251Leu and Val103Ile). The rs17782313 variant is possibly associated with satiety responsiveness (P = 0.01) and enjoyment of food scores (P = 0.03).
CONCLUSION
The rs17782313 variant may influence eating behavior in obese children.
目的
筛选黑素皮质素-4 受体（MC4R）基因编码区的突变，并评估 MC4R 附近 rs17782313 变异与儿童肥胖和饮食行为的关系。
对象和方法
本研究纳入了 221 名肥胖智利儿童和 268 名父母作为横断面样本，共组成 134 个病例-父母三体型。我们对 MC4R 编码区进行了直接测序，而 rs17782313 变异则通过 Taqman 检测进行了基因分型。采用适用于智利家庭的儿童饮食行为问卷和三因素饮食问卷计算了饮食行为评分。
结果
在智利肥胖儿童中，MC4R 编码区的遗传变异频率较低（Thr150Ile 突变和 Ile251Leu 和 Val103Ile 多态性）。rs17782313 变异可能与饱腹感反应（P=0.01）和对食物的享受程度（P=0.03）有关。
结论
rs17782313 变异可能影响肥胖儿童的饮食行为。
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