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rs2104286 (IL2RA)

What you carry at this position in your DNA and what research says about it.

Autoimmune Disease Risk: 7/10 evidence, 45 publications.

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Sample genotype (not yours): T/T

Higher Risk of Autoimmune Diseases

Presence of the T/T genotype is associated with an increased risk of developing several autoimmune conditions. This includes a higher likelihood of multiple sclerosis, type 1 diabetes, and rheumatoid arthritis.

What this genotype means: Increased risk of multiple sclerosis; Increased risk of type 1 diabetes; Higher levels of soluble IL-2RA.

Sample genotype (not yours): C/C

Typical Risk of Autoimmune Diseases

Presence of the C/C genotype is associated with a lower risk of several autoimmune conditions. This includes a reduced likelihood of developing multiple sclerosis, type 1 diabetes, and rheumatoid arthritis.

What this genotype means: Lower risk of multiple sclerosis; Lower risk of type 1 diabetes; Lower levels of soluble IL-2RA.

Sample genotype (not yours): T/C

Slightly Higher Risk of Autoimmune Diseases

Presence of the T/C genotype is associated with a moderately increased risk of autoimmune conditions. This includes a slight elevation in the risk of multiple sclerosis, type 1 diabetes, and rheumatoid arthritis.

What this genotype means: Moderately increased risk of multiple sclerosis; Moderately increased risk of type 1 diabetes; Slightly higher levels of soluble IL-2RA.

About IL2RA

Gene function and biological role

Gene Function: The IL2RA gene encodes the alpha subunit of the interleukin-2 receptor, also known as CD25, which is essential for regulating the immune system [1]. This receptor subunit helps control the balance of T cells, which are crucial for distinguishing between the body's own tissues and foreign invaders [1]. Proper IL2RA function is vital for maintaining self-tolerance and preventing the immune system from attacking healthy cells [2]. Genetic variations in this gene can alter the expression of the receptor on immune cells or affect the levels of its soluble form in the bloodstream [1]. Consequently, these changes can disrupt immune regulation and increase susceptibility to various chronic inflammatory and autoimmune conditions [1].

Variant Impact: Located in the first intron of the IL2RA gene, rs2104286 influences how the gene is expressed and regulated [1]. The genetic change alters the levels of soluble interleukin-2 receptor alpha in the blood, which acts as a biomarker of immune activation [3]. It also affects the density of CD25 receptors on the surface of naive T cells, modifying how they respond to immune signals [4]. By altering these immune pathways, the variant shifts the delicate balance between immune activation and self-tolerance [4]. This molecular shift directly influences an individual's susceptibility to multiple autoimmune disorders, including multiple sclerosis and type 1 diabetes [1].

Key Insight: The protective C allele is actually the minor, less common version of this variant, meaning the majority of the population carries the version that increases autoimmune risk.

Location: IL2RA. Chromosome 10 · 10p15.1 · 6.1 Mb

Genotype Frequencies

Estimated prevalence by population

Global 68.0%; European 54.7%; African 87.7%; East Asian 75.6%; South Asian 66.5%; Americas 75.8%; Ashkenazi 56.7%; Finnish 66.0%; Middle Eastern 72.3%; Amish 51.4%.

Estimated TT genotype frequency.

Global 28.1%; European 38.5%; African 11.9%; East Asian 22.7%; South Asian 30.1%; Americas 22.5%; Ashkenazi 37.2%; Finnish 30.5%; Middle Eastern 25.5%; Amish 40.6%.

Estimated TC genotype frequency.

Global 4.0%; European 6.8%; African 0.4%; East Asian 1.7%; South Asian 3.4%; Americas 1.7%; Ashkenazi 6.1%; Finnish 3.5%; Middle Eastern 2.2%; Amish 8.0%.

Estimated CC genotype frequency.

Associated Traits

Showing effects for T/T genotype

Immunity & Inflammation

Autoimmune Diseases

Multiple Sclerosis. Evidence: 7/10. Source: PMID 19525953. ~1.15x Risk.

Rheumatoid Arthritis. Evidence: 5/10. Source: PMID 24449572. ~1.7x Risk.

Inflammatory & Circulating Protein Markers

Soluble IL-2RA Levels. Evidence: 4/10. Source: PMID 38565889. Elevated Levels.

Cardiovascular & Metabolic

Diabetes & Glycemic Traits

Type 1 Diabetes. Evidence: 4/10. Source: PMID 19956099. ~1.6x Risk.

Showing effects for C/C genotype

Multiple Sclerosis. Evidence: 7/10. Source: PMID 19525953. Lower Risk.

Rheumatoid Arthritis. Evidence: 5/10. Source: PMID 24449572. Lower Risk.

Soluble IL-2RA Levels. Evidence: 4/10. Source: PMID 38565889. Typical Levels.

Type 1 Diabetes. Evidence: 4/10. Source: PMID 19956099. Lower Risk.

Showing effects for T/C genotype

Multiple Sclerosis. Evidence: 7/10. Source: PMID 19525953. Slightly Increased.

Rheumatoid Arthritis. Evidence: 5/10. Source: PMID 24449572. ~1.4x Risk.

Soluble IL-2RA Levels. Evidence: 4/10. Source: PMID 38565889. Moderately Elevated.

Type 1 Diabetes. Evidence: 4/10. Source: PMID 19956099. ~1.3x Risk.

What TT Genotype Means

What this genotype means for the people who carry it

Sample genotype: TT (Homozygous)

A higher risk of several autoimmune conditions is associated with this genetic profile due to its impact on immune system regulation. Research shows that carrying two copies of the T allele increases the risk of multiple sclerosis by approximately 1.15 to 1.2 times [1]. It is also linked to a roughly 1.6-fold increased risk of developing type 1 diabetes [2]. On a molecular level, this genetic profile is associated with higher levels of soluble interleukin-2 receptor alpha in the blood [3]. This soluble form can act as a decoy, binding to interleukin-2 and reducing the signaling needed to maintain regulatory T cells [3]. Without adequate regulatory T cell activity, the immune system is more likely to mistakenly attack the body's own tissues [2]. This genotype also correlates with an increased susceptibility to other inflammatory conditions, such as rheumatoid arthritis and juvenile idiopathic arthritis [4].

Increased risk of multiple sclerosis; Increased risk of type 1 diabetes; Higher levels of soluble IL-2RA; Increased risk of rheumatoid arthritis.

What CC Genotype Means

Sample genotype: CC (Homozygous)

A protective effect against several chronic autoimmune and inflammatory diseases is linked to this genetic profile. Carrying two copies of the C allele is linked to a significantly lower risk of developing multiple sclerosis compared to carrying the T allele [1]. It also provides protection against type 1 diabetes, reducing the risk compared to the common genetic baseline [2]. At the cellular level, this genetic profile is associated with lower levels of soluble interleukin-2 receptor alpha in the blood [3]. This reduction helps maintain effective interleukin-2 signaling, which is crucial for the proper function of regulatory T cells that prevent autoimmunity [3]. As a result, the immune system is better equipped to maintain self-tolerance and avoid attacking healthy tissues [2]. This protective effect extends to other inflammatory conditions, including a lower risk of rheumatoid arthritis and juvenile idiopathic arthritis [4].

Lower risk of multiple sclerosis; Lower risk of type 1 diabetes; Lower levels of soluble IL-2RA; Reduced risk of rheumatoid arthritis.

What TC Genotype Means

Sample genotype: TC (Heterozygous)

An intermediate risk profile for various autoimmune and chronic inflammatory diseases is characteristic of this genetic makeup. Carrying one copy of the T allele is associated with a moderate increase in the risk of developing multiple sclerosis compared to carrying none [1]. It also confers a roughly 1.3-fold increase in the risk of type 1 diabetes [2]. The presence of the T allele influences the production of soluble interleukin-2 receptor alpha, leading to moderately elevated levels in circulation [3]. This elevation can interfere with normal immune signaling pathways, slightly reducing the body's ability to regulate autoimmune responses [3]. Consequently, individuals with this genotype have a slightly higher susceptibility to rheumatoid arthritis and other inflammatory joint conditions compared to those with the protective genotype [4]. While the risk is elevated, it is lower than that of individuals carrying two copies of the T allele [2].

Moderately increased risk of multiple sclerosis; Moderately increased risk of type 1 diabetes; Slightly higher levels of soluble IL-2RA; Slightly increased risk of rheumatoid arthritis.

Related Variants

Variants with shared genetic architecture

rs61839660 · IL2RA Gene · Chr 10 · Autoimmune and Allergy Risk

rs706778 · IL2RA Gene · Chr 10 · Autoimmune Disease Risk

rs706779 · IL2RA Gene · Chr 10 · Autoimmune Disease Risk

Sources

IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production.

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

Genetic determinants of plasma protein levels in the Estonian population.

Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource.

The type I diabetes association of the IL2RA locus.

Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.

Back to Variant Explorer

Content updated August 2026.

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