CLEC16A rs2075555: Understanding Autoimmune Susceptibility Variants
The rs2075555 variant is a single nucleotide polymorphism located within the CLEC16A gene. It has been identified in genetic studies as being associated with a susceptibility to various autoimmune conditions, including type 1 diabetes and multiple sclerosis.
What each genotype means
Typical autoimmune risk profile
This genotype represents the common version of the CLEC16A variant. Research indicates that this specific genetic marker is associated with susceptibility to various autoimmune conditions, including type 1 diabetes and autoimmune thyroid disease, though the overall risk remains complex and multifactorial.
Carried by approximately 45-50% of individuals of European ancestry.
Increased autoimmune susceptibility marker
Carrying one copy of the minor allele at this position is associated with a statistically higher likelihood of developing certain autoimmune phenotypes compared to the common genotype. Because this variant is an intronic marker, its exact biological mechanism is still being studied, and it should be viewed as one of many factors influencing immune system regulation.
Carried by approximately 40-45% of individuals of European ancestry.
Elevated autoimmune susceptibility marker
This genotype contains two copies of the minor allele, which has been identified in genome-wide association studies as a susceptibility marker for multiple autoimmune disorders. While this association is well-documented in research, it does not guarantee the development of any disease, as autoimmune conditions are influenced by a combination of genetics, environment, and lifestyle.
Carried by approximately 5-10% of individuals of European ancestry.
What is the rs2075555 Variant?
The rs2075555 variant is a specific genetic change, or single nucleotide polymorphism (SNP), located within the CLEC16A gene. Specifically, this variant is found in an intronic region, meaning it sits within a non-coding part of the gene that does not directly provide instructions for building a protein. However, intronic variants can still influence how a gene is regulated, how much of its protein is produced, or how the gene is spliced. In the context of the human genome, rs2075555 is one of several markers within the CLEC16A locus that researchers track to understand genetic predispositions to immune-related health conditions. Because it is located in a non-coding region, its primary impact is thought to be regulatory rather than structural, potentially altering the expression levels of the CLEC16A protein in specific cell types.
The Role of the CLEC16A Gene
The CLEC16A gene, also known as KIAA0350, provides instructions for creating a protein that is primarily expressed in immune cells. Research indicates that the CLEC16A protein plays a critical role in cellular maintenance processes, specifically autophagy and mitophagy. Autophagy is the process by which cells break down and recycle damaged components, while mitophagy is a specialized form of this process focused on clearing out dysfunctional mitochondria. By regulating these pathways, CLEC16A helps maintain cellular health and prevents the accumulation of cellular debris that could otherwise trigger inflammatory responses. Studies in both human cells and animal models suggest that when CLEC16A function is altered, it can lead to immune system dysregulation, affecting how T cells and other immune cells respond to stimuli and maintain homeostasis.
Research and Autoimmune Associations
Genetic research has linked variations in the CLEC16A gene to a range of autoimmune and inflammatory disorders. The evidence for these associations is considered limited to moderate, as the biological mechanisms are complex and often involve interactions with other genes and environmental factors. Studies have observed statistical associations between CLEC16A variants and conditions such as type 1 diabetes, multiple sclerosis, and other immune-mediated diseases. However, it is important to note that having a specific genotype at the rs2075555 locus does not mean an individual will develop a disease. These variants are considered susceptibility factors, meaning they may slightly increase the statistical likelihood of developing a condition compared to the general population. Much of the current research is focused on how these variants influence immune cell signaling and whether they contribute to the underlying pathology of these chronic conditions.
Interpreting Your Genetic Information
Information regarding genetic variants like rs2075555 is intended for educational purposes and should not be used for medical diagnosis or personal health management. While scientific literature identifies statistical correlations between this variant and autoimmune susceptibility, these findings are based on population-level data and do not predict individual health outcomes. Many factors, including lifestyle, environment, and the cumulative effect of thousands of other genetic variants, contribute to the development of autoimmune diseases. If you have concerns about your health or family history of autoimmune conditions, the most appropriate step is to consult with a qualified healthcare professional or a genetic counselor. They can provide context based on your personal medical history and help you understand what, if any, clinical steps are relevant to your situation. Never make changes to your medical care based on genetic data without professional guidance.
How common is this variant?
The rs2075555 variant is common, with a minor allele frequency typically reported between 0.30 and 0.35 in European populations.
Frequently asked questions
Does having the rs2075555 variant mean I will get an autoimmune disease?
No. This variant is only a susceptibility factor, meaning it is statistically associated with a slightly higher risk in large populations. It is not a diagnostic marker, and most people with this variant will never develop an autoimmune disease.
What is the function of the CLEC16A gene?
CLEC16A is involved in essential cellular processes like autophagy and mitophagy, which help cells recycle damaged components. It is particularly important for the proper function of immune cells.
Can I change my risk associated with this SNP?
Genetic variants are inherited and cannot be changed. However, autoimmune disease risk is influenced by many factors, including environment and lifestyle, which are often the focus of general health maintenance.
Where can I find more information about my specific genetic results?
If you have received genetic testing results, you should discuss them with a healthcare provider or a genetic counselor. They can help interpret the findings in the context of your personal and family medical history.
Sources & further reading
Educational information only, last refreshed 10/26/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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