MC1R rs72552764: What Your Genotype Means
The rs72552764 variant is a specific change in the MC1R gene that has been identified in research as having potential associations with reproductive hormone profiles. It is also being investigated for its possible links to endometriosis and susceptibility to certain reproductive system malignancies.
What each genotype means
Typical MC1R genotype
This is the most common genotype for this variant. Research into the MC1R gene often focuses on its role in pigmentation and hormone regulation, and while this variant has been studied in the context of reproductive health, the presence of the common allele does not indicate a specific clinical diagnosis. Associations with conditions like endometriosis are complex and involve many genetic and environmental factors.
This is the most frequent genotype observed globally in the gnomAD database.
Heterozygous variant carrier
Carrying one copy of the variant allele is associated with research findings regarding reproductive hormone profiles and potential susceptibility to reproductive system conditions. Because endometriosis and related reproductive traits are multifactorial, this genotype is only one of many factors that may influence individual health outcomes. You should discuss any concerns about reproductive health or family history with a qualified healthcare provider.
This genotype is present in a small percentage of the population, consistent with a global minor allele frequency of approximately 0.008.
Homozygous variant carrier
This genotype represents the homozygous state for the variant allele. While studies have investigated links between MC1R variants and reproductive system malignancies or endometriosis, these associations are statistical in nature and do not predict individual disease development. Genetic risk is only one component of reproductive health, and clinical management should be based on comprehensive medical evaluation rather than a single genetic marker.
This genotype is rare in the general population, occurring at a frequency consistent with the low global minor allele frequency of this variant.
Understanding the rs72552764 Variant
The rs72552764 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 situated on chromosome 16, a region known for housing the MC1R gene, which is highly polymorphic and plays a central role in human pigmentation. While many variants in this gene are well-studied for their effects on hair and skin color, rs72552764 is categorized within reproductive genetics research. Scientists track these variations to understand how subtle changes in our genetic code might influence complex biological processes, such as hormone regulation and the development of reproductive conditions. Because this variant is relatively rare, it is often studied in the context of large-scale genomic datasets to determine if it contributes to specific health outcomes or if it is simply a neutral marker of human diversity.
The Role of the MC1R Gene
The MC1R gene provides the instructions for creating the melanocortin 1 receptor protein. This receptor is primarily known for its role in regulating the production of melanin, the pigment that determines the color of our skin, hair, and eyes. When the receptor is activated, it triggers a signaling pathway that influences whether the body produces eumelanin (dark pigment) or pheomelanin (light pigment). Beyond pigmentation, the MC1R gene is expressed in various tissues throughout the body, suggesting that its function may extend into other physiological systems. Current research is exploring how variations in this gene might influence broader biological pathways, including those related to inflammation and hormone signaling. Understanding the gene's function is essential for researchers attempting to bridge the gap between basic molecular biology and the complex, multi-factorial nature of reproductive health conditions like endometriosis.
Research and Evidence Strength
The evidence linking rs72552764 to reproductive health is currently considered moderate. Scientific interest in this variant has grown as researchers look for genetic contributors to endometriosis, a condition where tissue similar to the lining of the uterus grows outside of it. Some studies have suggested that variations in genes like MC1R may be involved in the complex interplay of environmental and genetic factors that influence reproductive hormone profiles. However, it is important to note that endometriosis is a highly complex, polygenic condition, meaning it is influenced by many different genes and environmental factors working in concert. While statistical associations have been observed in some populations, these findings are often subject to ongoing validation. The field of genomics is rapidly evolving, and as more data becomes available through large-scale studies, our understanding of the specific impact of this variant will likely become more precise.
Population Frequency and Diversity
Genetic variants are rarely distributed evenly across all human populations, and rs72552764 is no exception. According to data from the Genome Aggregation Database (gnomAD), this variant has a global minor allele frequency (MAF) of approximately 0.008. This low frequency indicates that the variant is relatively uncommon in the general population. Because genetic studies are often conducted on specific ancestral groups, the observed frequency can vary significantly depending on the population being sampled. It is common for rare variants to be more prevalent in certain geographic or ethnic groups due to historical population bottlenecks or founder effects. Researchers emphasize the importance of multi-ancestry studies to ensure that genetic findings are applicable to a diverse range of people. If you are interested in your own genetic profile, it is helpful to remember that population-level statistics describe trends across large groups and do not necessarily predict individual health outcomes.
Interpreting Your Genetic Information
If you have received information about your rs72552764 genotype, it is important to view it within the context of your overall health. Genetic variants are only one piece of a much larger puzzle that includes your lifestyle, environment, and medical history. Having a specific genotype does not mean you will develop a particular condition, nor does it guarantee protection against one. This information is intended for educational purposes and should not be used to diagnose or treat any medical condition. If you have concerns about reproductive health, hormone levels, or symptoms such as pelvic pain, the most effective step is to consult with a qualified healthcare provider or a genetic counselor. They can help you interpret your results in the context of your personal health journey and guide you toward appropriate screenings or clinical evaluations. Always discuss any health-related questions with a professional who can provide personalized medical advice.
How common is this variant?
The rs72552764 variant is relatively rare, with a global minor allele frequency of approximately 0.008 according to gnomAD data.
Frequently asked questions
Is rs72552764 a cause of endometriosis?
No, rs72552764 is not considered a direct cause of endometriosis. It is a genetic variant that has shown statistical associations with the condition in some research, but endometriosis is a complex disease influenced by many genetic and environmental factors.
Should I be worried if I have the G allele?
Having a specific genetic variant does not mean you will develop a health condition. Genetic associations are statistical findings across large populations and do not predict individual health outcomes; you should discuss any health concerns with your doctor.
Does this variant affect my skin color?
While the MC1R gene is well-known for its role in pigmentation, rs72552764 is specifically studied for its potential links to reproductive health. Most pigmentation effects are associated with other, more common variants in the MC1R gene.
Can I use this information to change my medical treatment?
No, you should never change your medical treatment based on genetic information without consulting your clinician. Always speak with a healthcare professional before making any decisions regarding your health or medication.
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.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.