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与肥胖不同,儿童中一种接近黑素皮质素-4受体基因变体与青春期时间的关系尚不明确。

Relationship between a near Melanocortin-4 receptor gene variant and puberty timing in children is vague unlike obesity.

作者信息

Mohsenipour Reihaneh, Rabbani Ali, Amoli Mahsa M, Asadi Mojgan, Abbasi Farzaneh

机构信息

Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

J Diabetes Metab Disord. 2022 May 30;21(2):1255-1260. doi: 10.1007/s40200-022-01011-5. eCollection 2022 Dec.

Abstract

BACKGROUND

Obesity is a complicated phenomenon which is a combination of genetic, environmental, and psychological factors. Genetic factors of obesity play an important role in individual risk. It is well known that obese children have disturbed puberty timing. To the best of our knowledge, no study has been performed to investigate the association between MC4R gene mutation and puberty timing.

METHODS

This study was performed as a cross-sectional study evaluating the near MC4R rs17782313 variation in 60 obese children and 98 healthy non obese children. Weight, height, BMI ( Body Mass Index ), BMI z-score (BMIz), family history of diabetes mellitus and obesity, the age of the obesity onset, overeating behavior, type of obesity (central or general) and puberty stage were evaluated in 60 obese children.

RESULTS

The average age of the participants was 14.87 (+/- 1.3) years, with average weight and BMI of 90.77 (+/-12.2) Kg and 31.72 (+/-4.35) Kg/m2, respectively. Compared to healthy non obese patients, those with C-T genotype (C-T Vs. T-T and C-C) had higher odds of obesity than those with T-T and C-C genotype (p < 0.0001) while genotype TT showed significant protective effect (p = 0.0007). The heterozygote individuals (CT) have a higher BMIz than homozygote ones (CC and TT) (2.8 vs. 2.5 Kg/m, p = 0.04).

CONCLUSIONS

children with CT genotype have 5.1 increased risk of obesity. While genotype TT showed significant obesity protective effect. We did not find association of this polymorphism with either childhood eating disorders or puberty. It is recommended to perform a cohort study in a larger sample.

SUPPLEMENTARY INFORMATION

The online version contains supplementary material available at 10.1007/s40200-022-01011-5.

摘要

背景

肥胖是一种复杂的现象,是遗传、环境和心理因素共同作用的结果。肥胖的遗传因素在个体风险中起着重要作用。众所周知,肥胖儿童的青春期发育时间会紊乱。据我们所知,尚未有研究调查黑素皮质素4受体(MC4R)基因突变与青春期发育时间之间的关联。

方法

本研究为横断面研究,评估了60名肥胖儿童和98名健康非肥胖儿童中MC4R基因附近的rs17782313变异。对60名肥胖儿童的体重、身高、体重指数(BMI)、BMI z评分(BMIz)、糖尿病和肥胖家族史、肥胖发病年龄、暴饮暴食行为、肥胖类型(中心性或全身性)以及青春期阶段进行了评估。

结果

参与者的平均年龄为14.87(±1.3)岁,平均体重和BMI分别为90.77(±12.2)kg和31.72(±4.35)kg/m²。与健康非肥胖患者相比,携带C-T基因型(C-T与T-T和C-C相比)的人患肥胖症的几率高于携带T-T和C-C基因型的人(p<0.0001),而基因型TT显示出显著的保护作用(p = 0.0007)。杂合子个体(CT)的BMIz高于纯合子个体(CC和TT)(2.8 vs. 2.5 kg/m,p = 0.04)。

结论

携带CT基因型的儿童患肥胖症的风险增加5.1倍。而基因型TT显示出显著的肥胖保护作用。我们未发现该多态性与儿童饮食失调或青春期之间存在关联。建议在更大样本中进行队列研究。

补充信息

在线版本包含可在10.1007/s40200-022-01011-5获取的补充材料。

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本文引用的文献

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MC4R variant rs17782313 and manifestation of obese phenotype in Pakistani females.
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