MC1R rs72552765: Understanding This Pigmentation-Linked Variant
The rs72552765 variant is a specific genetic change located within the MC1R gene, which is primarily known for regulating human pigmentation. Research has linked this variant to variations in skin and hair color, as well as potential associations with reproductive health conditions like endometriosis.
What each genotype means
Typical pigmentation profile
This genotype represents the most common form of the MC1R gene at this position, often referred to as the wild-type or reference sequence. Research indicates that individuals with this genotype do not carry the Arg142His variant, which is associated with altered pigmentation and potential links to endometriosis risk. This result does not indicate a specific medical condition, and any concerns regarding reproductive health or skin pigmentation should be discussed with a healthcare professional.
This is the most common genotype globally, found in the vast majority of individuals across all ancestral populations.
Carrier of pigmentation variant
You carry one copy of the Arg142His variant, also known as R142H. This variant in the MC1R gene has been associated with red hair color and may play a role in sex hormone pathway modulation or endometriosis risk in some studies. Because you carry only one copy, your pigmentation and health outcomes may be influenced by your other MC1R alleles and environmental factors.
Carried by approximately 3% of individuals of European ancestry; it is significantly rarer in African and East Asian populations.
Homozygous for pigmentation variant
You carry two copies of the Arg142His variant, also known as R142H. This variant is known to influence MC1R function, which is involved in skin pigmentation and has been studied for its potential association with endometriosis risk and hormonal pathways. While this genotype is linked to specific pigmentation traits, it is not a diagnostic tool for any disease; please consult with a clinician to discuss any health concerns or reproductive history.
This genotype is rare, occurring in a very small fraction of the population, primarily observed in individuals of European descent.
What is rs72552765?
The variant rs72552765 is a single nucleotide polymorphism (SNP) located in the MC1R gene. In genetics, a SNP represents a change in a single "letter" of the DNA sequence. This specific variant results in an amino acid change known as Arg142His, where the amino acid arginine is replaced by histidine at position 142 of the protein. Because this change occurs within the coding region of the gene, it has the potential to alter the structure or function of the resulting protein. Scientists track these variants using rsIDs (reference SNP identification numbers) to ensure consistency across global research databases. By studying where this variant sits on the chromosome, researchers can better understand how it might influence biological processes, particularly those related to the melanocortin signaling pathway.
The Role of the MC1R Gene
The MC1R gene provides the instructions for creating the melanocortin 1 receptor protein. This receptor is found on the surface of melanocytes, which are specialized cells that produce melanin, the pigment responsible for the color of our skin, hair, and eyes. When the receptor is activated, it triggers a cascade of signals that leads to the production of eumelanin, a dark pigment that helps protect the skin from ultraviolet (UV) radiation. Variations in this gene are well-documented as the primary drivers of natural pigment diversity in humans, including red hair and fair skin. Beyond pigmentation, the receptor is part of a broader signaling network that may interact with other physiological systems, including those involved in inflammation and hormonal regulation, which is why researchers investigate its potential role in complex conditions.
Research and Associations
Scientific interest in rs72552765 stems from its potential impact on both pigmentation and reproductive health. While MC1R is best known for its role in skin and hair color, some studies have explored its connection to endometriosis, an estrogen-dependent disorder characterized by the growth of tissue similar to the uterine lining outside the uterus. The evidence linking this specific variant to endometriosis is considered moderate, meaning that while associations have been observed in some studies, they are not definitive. Researchers are currently investigating whether the variant influences sex hormone pathways, which could theoretically affect susceptibility to hormone-sensitive conditions. It is important to note that genetic associations are statistical in nature; they indicate that a variant is more common in a specific group but do not prove that the variant directly causes a disease. Further research is required to clarify the biological mechanisms involved.
Population Frequency
The frequency of the rs72552765 variant varies significantly across different ancestral groups. According to data from the Genome Aggregation Database (gnomAD), the minor allele frequency (MAF) in European populations is approximately 0.015, or 1.5%. In contrast, this variant is considered rare or absent in many African and East Asian populations. These differences highlight the importance of considering genetic ancestry when interpreting the potential impact of a variant. Because the variant is relatively uncommon even in populations where it is most frequent, it is not considered a major driver of common traits for the vast majority of the global population. Understanding these frequency patterns helps scientists distinguish between common, benign variations and those that may have more significant biological consequences.
What This Information Means for You
If you have identified this variant in your own genetic data, it is important to view it within the context of your overall health. Genetic variants are only one piece of a very large puzzle that includes your environment, lifestyle, and other genetic factors. Because the evidence linking rs72552765 to health outcomes like endometriosis is currently limited and statistical, it cannot be used to predict your personal risk or diagnose a medical condition. You should never make changes to your health management or medication based on a single genetic variant. If you have concerns about your reproductive health or skin cancer risk, the most effective approach is to consult with a qualified healthcare provider. They can evaluate your personal and family medical history, which provides much more actionable information than a single SNP result.
How common is this variant?
The rs72552765 variant has a minor allele frequency of approximately 0.015 in European populations and is rare in African and East Asian populations.
Frequently asked questions
Does having the rs72552765 variant mean I will get endometriosis?
No. Genetic variants are statistical associations, not diagnostic tools. Having this variant does not mean you will develop a condition, and many people without the variant may still develop the condition.
Can I use this variant to predict my hair or skin color?
While MC1R is involved in pigmentation, rs72552765 is only one of many variants that influence these traits. It is not a reliable predictor of your specific hair or skin color on its own.
Should I be worried about my MC1R genotype?
There is no reason for concern based on a single variant. Genetic results should be discussed with a doctor who can interpret them in the context of your full medical history.
Where can I find more information about my specific genetic results?
You should consult with a genetic counselor or your primary care physician. They are trained to help you understand what your genetic information means for your personal health.
Sources & further reading
Educational information only, last refreshed 10/16/2026. 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.Arg142His) is a well-established, highly penetrant allele associated with red hair color and fair skin pigmentation.
This missense variant (p.Arg160Trp) is a primary genetic determinant of red hair color, pale skin, and increased freckling in European populations.
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.