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LEPR rs1137100: Understanding the Lys109Arg Variant

rs1137100
Trait
Moderate evidenceGene: LEPR

The rs1137100 variant is a common genetic change located in the LEPR gene, which encodes the leptin receptor. Researchers frequently study this variant to understand its potential associations with body mass index, insulin sensitivity, and other metabolic health markers.

What each genotype means

A/ALower attention

Typical leptin receptor profile

This genotype represents the most common form of the LEPR gene at this position. Research into this variant, also known as K109R, has produced inconclusive results regarding its specific impact on body mass index and metabolic health, with findings often varying significantly between different study populations.

This is the most frequent genotype observed in most global populations.

A/GModerate attention

Common variant carrier

Carrying one copy of the G allele is common and has been studied for potential associations with glucose tolerance and insulin response. Because research results are mixed and often ancestry-specific, this genotype should be viewed as a statistical signal rather than a definitive indicator of metabolic health.

This genotype is found in a significant portion of the population, with the minor allele frequency for the G variant typically ranging between 0.15 and 0.25.

G/GModerate attention

Variant-associated metabolic profile

Individuals with this genotype carry two copies of the G allele, which has been investigated for its potential role in insulin resistance and metabolic traits. Current scientific literature remains inconsistent, and it is not possible to predict individual health outcomes based on this genotype alone.

This genotype is less common than the AA or AG combinations, appearing in a smaller subset of the global population.

What is rs1137100?

The rs1137100 variant is a single-nucleotide polymorphism (SNP) found within the LEPR gene, which is located on chromosome 1. In this specific genetic location, an adenine (A) nucleotide is often replaced by a guanine (G) nucleotide. This change results in a missense mutation, meaning it alters the amino acid sequence of the resulting protein—specifically, it causes a substitution of lysine for arginine at position 109 (Lys109Arg). Because this variant is located in the coding region of the gene, scientists have long investigated whether this structural change affects how the leptin receptor functions within the body. It is one of several common variants in the LEPR gene that are frequently analyzed in genetic studies alongside other nearby markers like rs1137101.

The Role of the LEPR Gene

The LEPR gene provides instructions for making the leptin receptor, a protein that sits on the surface of cells, particularly in the brain. This receptor is the primary docking site for leptin, a hormone produced by fat cells that acts as a key signal for energy balance. When leptin binds to its receptor, it sends signals to the brain that help regulate appetite, energy expenditure, and fat metabolism. If the leptin signaling pathway is disrupted, the body may struggle to accurately sense its energy stores, which can influence body weight and metabolic processes. Because of its central role in these pathways, variations in the LEPR gene are of significant interest to researchers studying the genetic architecture of obesity, insulin resistance, and related metabolic conditions.

Research and Evidence

Scientific evidence regarding the impact of rs1137100 is considered moderate and often inconsistent. Numerous studies have attempted to link this variant to obesity, body mass index (BMI), and metabolic disturbances, but results vary significantly across different populations. For instance, some research has suggested potential associations with renal function or metabolic outcomes in specific cohorts, while other studies have found no significant link to obesity or weight-related traits. The complexity of metabolic health means that genetic variants like rs1137100 likely interact with many other factors, including diet, lifestyle, and other genetic markers. Because the findings are mixed and often depend on the specific ancestry or health status of the group being studied, it is not currently used as a definitive predictor for clinical health outcomes.

Population Frequency

The rs1137100 variant is relatively common, with a minor allele frequency typically reported between 0.15 and 0.25 across various global populations. This means that a significant portion of the general population carries at least one copy of the G allele. Because it is a common variant, it is frequently observed in large-scale genomic databases and population studies. However, the exact frequency can fluctuate depending on the specific ancestral background of the group being analyzed. Understanding these frequency patterns helps researchers design better studies to determine whether the variant contributes to health differences between populations or if it is simply a neutral piece of genetic variation that is widely distributed.

Interpreting Your Information

It is important to remember that genetic variants like rs1137100 are only one small piece of a much larger puzzle regarding human health. Having a particular genotype for this SNP does not determine your health outcomes, nor does it serve as a diagnosis for any condition. Metabolic health is influenced by a complex interplay of genetics, environment, nutrition, and physical activity. If you have questions about your metabolic health, weight management, or how your genetic profile might relate to your personal health goals, the best approach is to consult with a qualified healthcare provider or a registered dietitian. They can help you interpret health information in the context of your overall medical history and provide guidance that is tailored to your specific needs.

How common is this variant?

The rs1137100 variant is common, with a minor allele frequency typically ranging from 0.15 to 0.25 across global populations.

Frequently asked questions

Does the rs1137100 variant cause obesity?

No, this variant does not cause obesity. While some studies have explored its association with body mass index, the evidence is inconsistent, and obesity is a complex condition influenced by many genetic and environmental factors.

Should I get tested for the LEPR rs1137100 variant?

There is no clinical recommendation to test for this variant. Because the results are not used to diagnose or treat specific conditions, testing is generally not considered useful for routine medical care.

Can I change my health outcomes if I have the G allele?

Genetic variants do not dictate your health. Regardless of your genotype, focusing on a balanced diet, regular physical activity, and working with a healthcare professional are the most effective ways to manage your metabolic health.

Is rs1137100 the same as other LEPR variants?

No, rs1137100 is a specific location in the LEPR gene. Other variants, such as rs1137101, are located in different parts of the gene and are studied for their own potential associations with health traits.

Sources & further reading

Educational information only, last refreshed 9/21/2026. Not medical advice — these associations describe population statistics, not individual predictions.

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