What you carry at this position in your DNA and what research says about it.
Obesity and Weight Risk: 10/10 evidence, 16 publications.
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Sample genotype (not yours): C/C
Typical Obesity Risk and Better Kidney Function
A typical body mass index and a lower risk of obesity characterize this genetic profile. It is also linked to slightly better kidney function markers.
What this genotype means: Lower risk of obesity; Typical body mass index; Better kidney function markers.
Sample genotype (not yours): A/A
Higher Obesity Risk
The highest risk of elevated body mass index and obesity is associated with this genetic profile. This genotype is also linked to a greater predisposition to emotional eating.
What this genotype means: Higher risk of obesity; Elevated body mass index; Lower kidney function markers.
Sample genotype (not yours): C/A
Moderately Higher Obesity Risk
A moderately increased risk of higher body mass index and obesity is linked to this genetic profile. It may also influence eating behaviors and appetite regulation.
What this genotype means: Moderately higher risk of obesity; Slightly higher body mass index; Slightly lower kidney function markers.
Gene function and biological role
Gene Function: The MC4R gene encodes the melanocortin 4 receptor, a critical protein expressed in the brain's hypothalamus that regulates appetite and energy balance. It integrates hormonal signals to suppress food intake and promote energy expenditure. Common variations near this gene are among the most robustly associated genetic factors for body mass index and obesity risk in humans. These genetic differences can influence eating behaviors, including food cravings and emotional eating patterns. Understanding MC4R function helps clarify how genetic predispositions shape metabolic health and weight management.
Variant Impact: Located in an intergenic region near the MC4R gene, rs571312 is a regulatory variant that influences gene expression. The A allele of this variant is consistently linked to higher body mass index and an increased risk of obesity. This association begins in early childhood and persists throughout adulthood. Because it is in high linkage disequilibrium with other key MC4R variants, rs571312 serves as a reliable marker for genetic weight predisposition.
Key Insight: This genetic variant influences weight from early childhood and interacts with stress levels to affect appetite regulation.
Location: MC4R. Chromosome 18 · 18q21.32 · 60.2 Mb
Estimated prevalence by population
Global 55.9%; European 58.5%; African 43.2%; East Asian 67.1%; South Asian 42.0%; Americas 69.7%; Ashkenazi 61.4%; Finnish 68.7%; Middle Eastern 49.1%; Amish 47.7%.
Estimated CC genotype frequency.
Global 37.2%; European 36.0%; African 45.1%; East Asian 29.6%; South Asian 45.6%; Americas 27.6%; Ashkenazi 33.9%; Finnish 28.4%; Middle Eastern 41.9%; Amish 42.7%.
Estimated CA genotype frequency.
Global 6.9%; European 5.5%; African 11.8%; East Asian 3.3%; South Asian 12.4%; Americas 2.7%; Ashkenazi 4.7%; Finnish 2.9%; Middle Eastern 9.0%; Amish 9.6%.
Estimated AA genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Obesity & Body Composition
Obesity. Evidence: 10/10. Source: PMID 20935630. Typical BMI.
Lipids & Cholesterol
Triglycerides. Evidence: 6/10. Source: PMID 27286809. Not established.
Organ Systems
Kidney Function & Disease
Kidney Function. Evidence: 6/10. Source: PMID 39256582. Better eGFR.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 6/10. Source: PMID 36224396. Typical.
Immunity & Inflammation
Inflammatory & Circulating Protein Markers
C-Reactive Protein. Evidence: 6/10. Source: PMID 27286809. Not established.
Showing effects for A/A genotype
Obesity. Evidence: 10/10. Source: PMID 20935630. Highest BMI Risk.
Kidney Function. Evidence: 6/10. Source: PMID 39256582. Lower eGFR.
Height. Evidence: 6/10. Source: PMID 36224396. Taller.
Showing effects for C/A genotype
Obesity. Evidence: 10/10. Source: PMID 20935630. Moderately Higher.
Kidney Function. Evidence: 6/10. Source: PMID 39256582. Slightly Lower eGFR.
Height. Evidence: 6/10. Source: PMID 36224396. Slightly Taller.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
The C/C genotype is the most common genetic profile globally. Research indicates that individuals with this genotype have a lower risk of developing childhood and adult obesity compared to those carrying the A allele. This protective effect is linked to the typical regulation of the MC4R gene, which controls appetite and satiety signals in the brain. Furthermore, this genotype is associated with higher estimated glomerular filtration rates, suggesting a positive influence on kidney health. Maintaining a balanced diet and regular exercise remains highly effective for this group, as they do not carry the genetic predisposition to elevated BMI linked to this locus.
Lower risk of obesity; Typical body mass index; Better kidney function markers.
Sample genotype: AA (Homozygous)
Two copies of the A allele are associated with the most pronounced increase in body mass index and obesity risk at this locus. The genetic change near the MC4R gene is thought to reduce the receptor's ability to signal fullness, leading to higher calorie intake. This effect often manifests early in life, contributing to childhood weight challenges that persist into adulthood. Research also shows that the genetic risk of weight gain can be partially offset by lifestyle factors, particularly regular physical activity. Individuals with this genotype may also have slightly lower kidney function markers, highlighting the importance of overall metabolic health.
Higher risk of obesity; Elevated body mass index; Lower kidney function markers.
Sample genotype: CA (Heterozygous)
A single copy of the A allele is associated with a moderate increase in body mass index from childhood through adulthood. This genetic variant is located near the MC4R gene, which plays a critical role in appetite control and energy balance. Studies suggest that the A allele may slightly alter satiety signals, potentially leading to increased food cravings or emotional eating. Additionally, this genotype is linked to a slightly lower estimated glomerular filtration rate, which is a marker of kidney function. Engaging in regular physical activity has been shown to help mitigate the genetic predisposition to weight gain associated with this variant.
Moderately higher risk of obesity; Slightly higher body mass index; Slightly lower kidney function markers.
Variants with shared genetic architecture
rs2229616 · MC4R Gene · Chr 18 · Obesity and Weight Control
rs6567160 · MC4R Gene · Chr 18 · Weight and Obesity Risk
rs17782313 · MC4R Gene · Chr 18 · Appetite and Weight Gain
Content updated August 2026.
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