MC4R
Melanocortin 4 receptor
Gene Number: 4160
Location: 18q21.32
Key Functions: Appetite regulation, energy balance, body weight control, glucose metabolism
MC4R encodes the melanocortin 4 receptor, a G protein-coupled receptor predominantly expressed in the hypothalamus.
It plays a crucial role in:
Regulating appetite and energy expenditure by responding to signals like α-melanocyte-stimulating hormone (α-MSH).
Disruptions in MC4R function are associated with increased food intake and reduced energy expenditure, leading to early-onset obesity. Mutations in this gene are among the most common monogenic causes of obesity in humans.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs17782313 | No matching variant or no valid DNA data | C | No interpretation available |
rs17782313
TT – Normal BMI; baseline weight regulation (R).
CT – Adults ~0.22 BMI units higher on average; linked to higher energy and fat intake and greater long-term weight gain risk (R).
CC – Adults ~0.44 BMI units higher; associated with increased risk of obesity and type-2 diabetes, particularly in women and children (R).
Functional effect: The C allele near the MC4R gene is a well-replicated obesity risk variant, influencing appetite regulation, snacking behavior, and BMI increase through hypothalamic pathways.
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