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

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

doi:10.1007/s40200-022-01011-5

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

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

Authors

Reihaneh Mohsenipour¹, Ali Rabbani¹, Mahsa M Amoli², Mojgan Asadi^{3

4}, Farzaneh Abbasi¹

Affiliations

¹ Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
² Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
³ Endocrinology and Metabolism Research Center,Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
⁴ Diabete Research Center, Endocinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.

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/m², 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.

Keywords: Children; MC4R rs17782313; Obesity; Puberty; Single nucleotide polymorphism.