NEK7 rs111428936: What Your Genotype Means
The genetic variant rs111428936 is a rare marker located within the NEK7 gene. It has been identified in scientific research as having a statistical association with variations in succinate levels, which are metabolic markers sometimes studied in the context of athletic endurance.
What each genotype means
Common baseline profile
This is the most frequently observed genotype for this variant in the general population. Current research suggests this version of the NEK7 gene is associated with standard metabolic markers, though the overall evidence linking this specific variant to physical traits remains limited.
This is the predominant genotype found across all major global populations.
Heterozygous variant carrier
You carry one copy of the variant allele. While some studies have explored associations between this variant and variations in succinate levels, the evidence is currently limited and does not indicate a significant departure from typical metabolic function.
This genotype is rare, appearing in a small fraction of the population across most ancestries.
Homozygous variant carrier
You carry two copies of the variant allele. Research into this variant's role in metabolic markers is ongoing, but current data is insufficient to conclude that this genotype results in meaningful differences in physical appearance or endurance.
This genotype is very rare, occurring at a very low frequency in global population databases.
Understanding the Variant
The variant rs111428936 is a specific change in the human genome located on chromosome 1 at position 198,171,880. In genetic databases, it is classified as a non-coding transcript exon variant, meaning it sits within a region of the NEK7 gene that is transcribed into RNA but does not code for the final protein structure. Because it is located in a non-coding region, researchers often investigate whether such variants influence how the gene is regulated or expressed rather than directly altering the protein's amino acid sequence. This variant is considered rare in the general population, and its presence is typically identified through large-scale genome-wide association studies (GWAS) that look for correlations between specific DNA markers and measurable physical or metabolic traits.
The Role of the NEK7 Gene
The NEK7 gene encodes a protein known as NIMA-related kinase 7. This protein is a member of the NIMA-related kinase family, which plays a critical role in cell division and the regulation of the cell cycle. Beyond its function in mitosis, NEK7 has gained significant attention in recent years for its involvement in the NLRP3 inflammasome, a complex that helps the immune system respond to cellular stress and danger signals. By acting as a key regulator of this inflammatory pathway, NEK7 links cellular metabolism and structural integrity to immune responses. Because of these diverse roles, variations in or near the NEK7 gene are frequently studied to understand how they might influence everything from basic cellular health to complex physiological processes, including metabolic efficiency and inflammatory regulation.
Research and Evidence Strength
The association between rs111428936 and succinate levels was identified in studies focusing on elite athletes. Succinate is an intermediate in the citric acid cycle, a fundamental process for energy production within cells. While the GWAS Catalog reports a statistical association between this variant and succinate measurements, the evidence strength is currently categorized as limited. This means that while the correlation was observed in a specific study cohort, it has not necessarily been replicated across diverse, large-scale populations or confirmed as a direct causal factor. It is important to view these findings as preliminary; the biological mechanism connecting this specific non-coding variant to metabolic markers in athletes remains an area of active scientific inquiry rather than a settled medical fact.
Population Frequency
The variant rs111428936 is classified as rare. In the context of human genetics, 'rare' typically indicates that the variant is found in a very small percentage of the population. Because it is not a common polymorphism, it is not frequently encountered in standard genetic screening panels. The distribution of such rare variants can often be ancestry-specific, meaning they may appear more frequently in certain populations while being virtually absent in others. Due to its rarity, there is limited data available regarding its frequency across global populations, and researchers continue to collect data to better understand its prevalence and potential impact on human health.
Interpreting Your Results
If you have received information about your status for rs111428936, it is essential to understand that this is a research-level association, not a diagnostic tool. Genetic variants associated with metabolic traits like succinate levels do not determine your athletic ability or health status in isolation; these traits are complex and influenced by a vast interplay of genetics, environment, diet, and training. You cannot use this information to predict performance or diagnose a metabolic condition. If you are interested in how your genetics might relate to your fitness or metabolic health, the best approach is to consult with a qualified healthcare provider, sports nutritionist, or genetic counselor. They can help you interpret genetic data within the context of your overall health history and lifestyle goals, ensuring that any decisions you make are based on comprehensive, personalized medical advice.
How common is this variant?
The variant rs111428936 is considered rare across global populations, with limited data available to establish precise frequency estimates.
Frequently asked questions
What does it mean if I have the rs111428936 variant?
Having this variant simply means you carry a specific genetic marker that has been statistically linked to succinate levels in some research studies. It is not a diagnosis of any condition and does not guarantee any specific physical trait or athletic ability.
Is rs111428936 related to athletic performance?
Some research has associated this variant with succinate levels in elite athletes, which are metabolic markers related to energy production. However, the evidence is limited, and athletic performance is determined by many factors, including training, nutrition, and thousands of other genes.
Should I change my diet based on this genetic result?
No, you should not change your diet or exercise regimen based on this single genetic variant. Always consult with a registered dietitian or a healthcare professional before making significant changes to your health routine.
Where can I find more information about NEK7?
You can find reliable information about the NEK7 gene and its functions through resources like the NIH's MedlinePlus Genetics or the GWAS Catalog. These databases provide curated, scientific information about genes and their known associations.
Sources & further reading
Educational information only, last refreshed 10/13/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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