MC1R rs72552762: Understanding This Genetic Variant
The rs72552762 variant is a specific change within the MC1R gene, which is primarily known for its role in regulating human pigmentation. Recent research has explored potential associations between this variant and various reproductive health traits, including endometriosis.
What each genotype means
Typical MC1R function
This genotype represents the most common form of the MC1R gene, which is primarily involved in regulating skin pigmentation and hormone receptor interactions. Research into this variant suggests it may be linked to endometriosis-related traits, though the biological mechanisms are complex and involve multiple genetic and environmental factors.
This is the most common genotype, carried by the majority of individuals in European populations.
Variant MC1R carrier
Carrying one copy of this variant may influence how your body processes certain reproductive hormone signals. While studies have explored its association with endometriosis risk, the clinical significance for an individual remains moderate and is not a diagnostic indicator of disease.
Carried by roughly 1 in 6 people of European ancestry; less common in East Asian populations.
Increased MC1R variant presence
This genotype indicates the presence of two copies of the variant, which has been studied for its potential role in cutaneous and reproductive hormone receptor interactions. Current evidence suggests a moderate association with endometriosis-related traits, but it does not determine health outcomes on its own.
This genotype is less common than the heterozygous state, occurring at a lower frequency in European populations.
What is rs72552762?
The rs72552762 variant is a single nucleotide polymorphism (SNP) located within the MC1R gene. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. This specific variant is cataloged in public databases as a functional allele, meaning it may alter the way the gene functions or how the resulting protein interacts with other biological systems. Because it sits within the MC1R gene, it is often studied in the context of both its well-established role in skin and hair pigmentation and its emerging, less-understood roles in other physiological processes. Researchers use these variants to map how small changes in our genetic code might contribute to complex traits or susceptibility to certain conditions.
The Role of the MC1R Gene
The MC1R gene provides the instructions for creating the melanocortin 1 receptor protein. This receptor is most famously located on the surface of melanocytes, the cells responsible for producing melanin, the pigment that gives skin, hair, and eyes their color. When the receptor is activated, it promotes the production of eumelanin, which typically results in darker pigmentation. Variations in this gene can shift this balance, often leading to the production of pheomelanin, which is associated with lighter hair and skin colors. Beyond pigmentation, the MC1R receptor is also expressed in other cell types throughout the body, including those involved in immune and inflammatory responses. While its exact function in these non-pigmentary cells remains an active area of scientific investigation, it is hypothesized that these receptors may play a role in broader hormonal and inflammatory pathways.
Research and Associations
Scientific interest in rs72552762 has grown due to its potential link to reproductive health, specifically endometriosis. Endometriosis is a complex, estrogen-dependent condition that can cause significant pelvic pain and infertility. Large-scale genome-wide association studies (GWAS) have been instrumental in identifying genetic loci that may contribute to the risk of developing this condition. While the evidence linking rs72552762 to endometriosis is considered moderate, it highlights the ongoing effort to understand how hormone receptor interactions and inflammatory pathways might influence reproductive health. It is important to note that genetic associations are statistical in nature; they indicate that a variant is found more frequently in individuals with a certain trait compared to those without it, but they do not imply a direct cause-and-effect relationship for any single individual.
Population Frequency
The frequency of genetic variants can vary significantly across different ancestral populations. According to data from the Genome Aggregation Database (gnomAD), the minor allele frequency (MAF) for rs72552762 in European populations is approximately 0.08. This means that the variant is present in a notable portion of the population, though it is not the most common form of the gene. Understanding these frequencies is crucial for researchers, as it helps them determine whether a variant is rare or common and allows for better comparisons across diverse groups. Because frequency data is constantly being updated as more genomes are sequenced, these numbers provide a snapshot of current knowledge rather than a static, universal truth.
Interpreting Your Genetic Information
If you have information about your genotype for rs72552762, it is essential to view it within the context of your overall health and family history. Genetic variants are only one piece of a much larger puzzle that includes environmental factors, lifestyle, and the influence of many other genes. You cannot use this information to diagnose yourself with any condition or to predict your future health outcomes with certainty. If you are concerned about reproductive health, symptoms like pelvic pain, or any other medical issue, the most appropriate step is to consult with a qualified healthcare provider. They can help you interpret your health history and determine if further clinical testing or specialized care is necessary. Never make changes to your health management based solely on genetic data without professional guidance.
How common is this variant?
The rs72552762 variant has a minor allele frequency of approximately 0.08 in European populations, according to gnomAD data.
Frequently asked questions
Does having the rs72552762 variant mean I have endometriosis?
No. Genetic variants are associated with statistical risks, not diagnoses. Many people carry this variant without ever developing endometriosis, and many people with endometriosis do not carry this variant.
Can I use this variant to predict my skin or hair color?
While the MC1R gene is involved in pigmentation, rs72552762 is just one of many variants that influence these traits. Pigmentation is a complex polygenic trait, meaning it is determined by the interaction of many different genes.
Where can I find more information about my specific genetic results?
You should discuss your genetic results with a genetic counselor or your primary care physician. They can help you understand what your results mean in the context of your personal and family health history.
Is this variant related to skin cancer risk?
Some variants in the MC1R gene are associated with an increased risk of skin cancer due to their effects on pigmentation and sun sensitivity. However, you should consult a dermatologist for a personalized assessment of your skin cancer risk.
Sources & further reading
Educational information only, last refreshed 9/22/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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The p.Arg163Gln variant in MC1R is associated with red hair, fair skin, and increased melanoma risk.
This missense variant (p.Arg160Trp) is a primary genetic determinant of red hair color, pale skin, and increased freckling in European populations.
This missense variant (p.Arg142His) is a well-established, highly penetrant allele associated with red hair color and fair skin pigmentation.
The Val60Leu missense variant in MC1R is a well-documented factor contributing to the red hair, fair skin, and freckling phenotype.
A rare variant associated with lighter skin pigmentation in specific populations.
Asp294His coding substitution in the MC1R gene associated with red hair, skin sun-sensitivity, and melanoma risk.