What you carry at this position in your DNA and what research says about it.
Multiple Sclerosis Risk: 8/10 evidence, 59 publications.
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Sample genotype (not yours): C/C
Higher Multiple Sclerosis and Autoimmune Risk
This genotype is associated with a moderately increased risk of multiple sclerosis and type 1 diabetes. However, it offers protection against a rare autoimmune liver disease.
What this genotype means: Increased risk of multiple sclerosis; Increased risk of type 1 diabetes; Lower risk of primary biliary cholangitis.
Sample genotype (not yours): C/T
Typical Autoimmune Risk Profile
This genotype represents an intermediate genetic profile with typical risks for most associated autoimmune conditions.
What this genotype means: Typical risk of multiple sclerosis; Typical risk of type 1 diabetes; Typical risk of primary biliary cholangitis.
Sample genotype (not yours): T/T
Lower Multiple Sclerosis Risk but Higher Liver Risk
This genotype significantly reduces the risk of multiple sclerosis and type 1 diabetes, but increases the risk of primary biliary cholangitis.
What this genotype means: Lower risk of multiple sclerosis; Lower risk of type 1 diabetes; Higher risk of primary biliary cholangitis.
Gene function and biological role
Gene Function: Interleukin 7 receptor (IL7R) encodes a critical protein subunit that forms the receptor for interleukin 7, a cytokine vital for immune system function. This receptor plays a central role in the development, survival, and homeostatic maintenance of T cells and B cells. Proper regulation of this pathway is essential for preventing autoimmune reactions while maintaining defense against pathogens. Genetic variations within this gene are frequently associated with susceptibility to multiple autoimmune disorders.
Variant Impact: Splicing of exon 6 in the IL7R gene is directly altered by this genetic change. The rs6897932 variant is a missense change (p.Thr244Ile) that disrupts an exonic splicing silencer [1]. This disruption alters the balance between the membrane-bound and soluble isoforms of the interleukin-7 receptor [1]. Higher levels of the soluble form are thought to drive autoimmune susceptibility by altering T-cell signaling [2].
Key Insight: This variant acts as a molecular splicing switch that shifts the interleukin-7 receptor from a membrane-bound form to a soluble form circulating in the blood. While one version of the gene increases the risk of multiple sclerosis, the other version increases the risk of a rare autoimmune liver disease, representing an evolutionary trade-off.
Location: IL7R. Chromosome 5 · 5p13.2 · 35.9 Mb
Estimated prevalence by population
Global 63.0%; European 54.0%; African 80.7%; East Asian 69.5%; South Asian 63.8%; Americas 67.9%; Ashkenazi 59.0%; Finnish 42.9%; Middle Eastern 72.3%; Amish 47.6%.
Estimated CC genotype frequency.
Global 32.0%; European 39.0%; African 18.2%; East Asian 27.8%; South Asian 32.1%; Americas 29.0%; Ashkenazi 35.6%; Finnish 45.2%; Middle Eastern 25.5%; Amish 42.8%.
Estimated CT genotype frequency.
Global 5.0%; European 7.0%; African 1.0%; East Asian 2.8%; South Asian 4.0%; Americas 3.1%; Ashkenazi 5.4%; Finnish 11.9%; Middle Eastern 2.2%; Amish 9.6%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Immunity & Inflammation
Autoimmune Diseases
Multiple Sclerosis. Evidence: 8/10. Source: PMID 17660530. Increased Risk.
Lupus. Evidence: 7/10. Source: PMID 36750564. Increased Risk.
Organ Systems
Liver Function & Disease
Biliary Cholangitis. Evidence: 5/10. Source: PMID 28062665. Decreased Risk.
Respiratory Health
Asthma. Evidence: 7/10. Source: PMID 37560908. Typical Risk.
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 1 Diabetes. Evidence: 4/10. Source: PMID 17554260. Increased Risk.
Showing effects for C/T genotype
Multiple Sclerosis. Evidence: 8/10. Source: PMID 17660530. Decreased Risk.
Lupus. Evidence: 7/10. Source: PMID 36750564. Typical Risk.
Biliary Cholangitis. Evidence: 5/10. Source: PMID 28062665. Typical Risk.
Type 1 Diabetes. Evidence: 4/10. Source: PMID 17554260. Typical Risk.
Showing effects for T/T genotype
Lupus. Evidence: 7/10. Source: PMID 36750564. Decreased Risk.
Biliary Cholangitis. Evidence: 5/10. Source: PMID 28062665. ~1.5x Increased Risk.
Type 1 Diabetes. Evidence: 4/10. Source: PMID 17554260. Decreased Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Two copies of the C allele lead to increased skipping of exon 6 during gene splicing [1]. This molecular shift produces higher levels of soluble interleukin-7 receptor and lower levels of the membrane-bound form [1]. Research shows that this imbalance in receptor isoforms is linked to a higher susceptibility to multiple sclerosis [2] and type 1 diabetes [3]. Additionally, this genotype is associated with an increased risk of systemic lupus erythematosus [4]. Conversely, the C/C genotype is protective against primary biliary cholangitis, showing a significantly lower risk compared to T allele carriers [5].
Increased risk of multiple sclerosis; Increased risk of type 1 diabetes; Lower risk of primary biliary cholangitis.
Sample genotype: CT (Heterozygous)
One copy of each allele results in a balanced production of both membrane-bound and soluble interleukin-7 receptor isoforms [1]. This intermediate splicing pattern translates to a typical risk profile for multiple sclerosis, showing a slight protective effect compared to the C/C genotype [2]. The risk for type 1 diabetes and systemic lupus erythematosus remains close to the population average [3] [4]. Similarly, the risk for primary biliary cholangitis is not significantly elevated [5]. This genotype represents the most common heterozygous state in many populations, maintaining a balanced immune response.
Typical risk of multiple sclerosis; Typical risk of type 1 diabetes; Typical risk of primary biliary cholangitis.
Sample genotype: TT (Homozygous)
Two copies of the T allele promote the inclusion of exon 6, leading to higher levels of membrane-bound interleukin-7 receptor [1]. This molecular configuration is highly protective against multiple sclerosis, reducing the risk by approximately thirty percent compared to the C/C genotype [2]. It also lowers the risk of developing type 1 diabetes [3] and systemic lupus erythematosus [4]. However, this genotype is a known risk factor for primary biliary cholangitis, an autoimmune condition affecting the bile ducts in the liver, with an odds ratio of approximately 1.52 [5]. This highlights a clear genetic trade-off in immune system regulation.
Lower risk of multiple sclerosis; Lower risk of type 1 diabetes; Higher risk of primary biliary cholangitis.
Variants with shared genetic architecture
rs3194051 · IL7R Gene · Chr 5 · Autoimmune Disease Risk
rs1077667 · TNFSF14 Gene · Chr 19 · Multiple Sclerosis Risk
rs1800693 · TNFRSF1A Gene · Chr 12 · Multiple Sclerosis Risk
U2AF2 binds IL7R exon 6 ectopically and represses its inclusion.
Risk alleles for multiple sclerosis identified by a genomewide study.
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
Content updated August 2026.
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