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Associations of MC4R, LEP, and LEPR Polymorphisms with Obesity-Related Parameters in Childhood and Adulthood
Asta Raskiliene1, Alina Smalinskiene2, Vilma Kriaucioniene1
1Health Research Institute, Faculty of Public Health, Lithuanian University of Health Sciences, 44307 Kaunas, Lithuania.
Insights
Genetic variations in MC4R and LEP genes are linked to obesity risk, with associations strengthening over time. Physical activity may mitigate MC4R
Area of Science:
- Genetics
- Metabolism
- Human Physiology
Background:
- The leptin-melanocortin pathway regulates energy homeostasis.
- Genetic polymorphisms in MC4R, LEP, and LEPR genes are implicated in obesity.
Purpose of the Study:
- To investigate associations between MC4R rs17782313, LEP rs7799039, and LEPR rs1137101 polymorphisms and obesity-related traits.
- To examine how these associations change from childhood to adulthood.
Main Methods:
- Utilized data from the Kaunas Cardiovascular Risk Cohort study (n=509).
- Performed Real-Time Polymerase Chain Reaction for genotype analysis.
- Collected anthropometric measurements in childhood and adulthood.
Main Results:
- Childhood associations: lower skinfold thickness with MC4R TT and LEP AG genotypes.
- Adulthood associations: increased odds of obesity and metabolic syndrome with MC4R CT/CC genotypes.
- Sex-specific effects: physical activity attenuated MC4R effects in men; LEP GG genotype linked to higher BMI and visceral fat in men.
Conclusions:
- MC4R and LEP gene polymorphisms show age-dependent associations with obesity-related parameters.
- LEPR rs1137101 had no significant associations.
- Lifestyle factors like physical activity may modify genetic predispositions to obesity.
Abstract:
MC4R, LEP, and LEPR genes are involved in the hypothalamic leptin-melanocortin regulation pathway, which is important for energy homeostasis. Our study aimed to evaluate the associations between the MC4R rs17782313, LEP rs7799039, and LEPR rs1137101 polymorphisms with obesity-related parameters in childhood and adulthood. The data were obtained from the Kaunas Cardiovascular Risk Cohort study, which started in 1977 with 1082 participants aged 12-13 years. In 2012-2014, the follow-up survey was carried out. Genotype analysis of all respondents (n = 509) aged 48-49 years was performed for the gene polymorphisms using Real-Time Polymerase Chain Reaction. Anthropometric measurements were performed in childhood and adulthood. In childhood, only skinfold thicknesses were associated with gene variants being the lowest in children with MC4R TT genotype and LEP AG genotype. In adulthood, odds of obesity and metabolic syndrome was higher in MC4R CT/CC genotype than TT genotype carriers (OR 1.8; 95% CI 1.2-2.8 and OR 1.6; 95% CI 1.1-2.4, respectively). In men, physical activity attenuated the effect of the MC4R rs17782313 on obesity. The LEP GG genotype was associated with higher BMI, waist circumference, and visceral fat level only in men. No associations of the LEPR rs1137101 polymorphisms with anthropometric measurements and leptin level were found. In conclusion, the associations of the MC4R and LEP gene polymorphisms with obesity-related parameters strengthened with age.
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