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rs7517847 (IL23R)

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

Crohn Disease Risk: 8/10 evidence, 39 publications.

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Sample genotype (not yours): T/T

Typical Risk of Crohn Disease and Autoimmune Conditions

This genotype represents the baseline genetic profile, carrying two copies of the common T allele. It is associated with standard susceptibility to Crohn disease and other chronic inflammatory conditions.

What this genotype means: Typical susceptibility to inflammatory bowel diseases; Standard baseline risk for ankylosing spondylitis.

Sample genotype (not yours): G/G

Significantly Lowered Risk of Crohn Disease and Autoimmune Conditions

Carrying two copies of the protective G allele provides the strongest genetic defense against Crohn disease. It also substantially reduces the risk of several other chronic inflammatory disorders.

What this genotype means: Strongest genetic protection against Crohn disease; Significantly reduced risk of ankylosing spondylitis and psoriasis.

Sample genotype (not yours): T/G

Reduced Risk of Crohn Disease and Autoimmune Conditions

Carrying one copy of the protective G allele is associated with a lower risk of developing Crohn disease. It also offers moderate protection against other chronic inflammatory disorders.

What this genotype means: Lowered risk of developing Crohn disease; Moderate protection against joint and skin inflammation.

About IL23R

Gene function and biological role

Gene Function: The IL23R gene encodes a subunit of the receptor for interleukin-23, a key pro-inflammatory cytokine [1]. This receptor is essential for the survival and expansion of Th17 cells, which regulate mucosal immunity and inflammatory responses [2]. Dysregulation of this pathway is a major driver of chronic intestinal inflammation and joint-related autoimmune diseases [3]. Genetic variations in this gene can significantly alter susceptibility to various chronic inflammatory disorders [4].

Variant Impact: The rs7517847 variant is an intronic change located within the IL23R gene [2]. While it does not alter the protein sequence directly, it influences receptor expression and downstream immune signaling [3]. The minor G allele is widely recognized as a protective variant against chronic inflammatory conditions [1]. Conversely, the major T allele is associated with typical susceptibility to these autoimmune disorders [4].

Key Insight: The minor G allele of this variant acts as a natural genetic shield, significantly lowering the risk of developing Crohn disease and several other chronic inflammatory conditions.

Location: IL23R. Chromosome 1 · 1p31.3 · 67.2 Mb

Genotype Frequencies

Estimated prevalence by population

Global 40.6%; European 31.5%; African 64.2%; East Asian 31.6%; South Asian 49.4%; Americas 21.8%; Ashkenazi 44.9%; Finnish 32.1%; Middle Eastern 53.0%; Amish 33.4%.

Estimated TT genotype frequency.

Global 44.1%; European 49.2%; African 31.8%; East Asian 49.2%; South Asian 41.8%; Americas 49.8%; Ashkenazi 44.2%; Finnish 49.1%; Middle Eastern 39.6%; Amish 48.8%.

Estimated TG genotype frequency.

Global 15.3%; European 19.2%; African 3.9%; East Asian 19.2%; South Asian 8.8%; Americas 28.4%; Ashkenazi 10.9%; Finnish 18.7%; Middle Eastern 7.4%; Amish 17.8%.

Estimated GG genotype frequency.

Associated Traits

Showing effects for T/T genotype

Immunity & Inflammation

Chronic Inflammatory Diseases

Crohn's Disease. Evidence: 8/10. Source: PMID 17435756. Typical Risk.

Ulcerative Colitis. Evidence: 6/10. Source: PMID 26974007. Typical Risk.

Autoimmune Diseases

Ankylosing Spondylitis. Evidence: 6/10. Source: PMID 26974007. Typical Risk.

Rheumatoid Arthritis. Evidence: 6/10. Source: PMID 33686288. Typical Risk.

Organ Systems

Skin & Hair Conditions

Psoriasis. Evidence: 6/10. Source: PMID 26974007. Typical Risk.

Showing effects for G/G genotype

Crohn's Disease. Evidence: 8/10. Source: PMID 17435756. ~35% Lower Risk.

Ulcerative Colitis. Evidence: 6/10. Source: PMID 26974007. Lowered Risk.

Ankylosing Spondylitis. Evidence: 6/10. Source: PMID 26974007. Lowered Risk.

Rheumatoid Arthritis. Evidence: 6/10. Source: PMID 33686288. Lowered Risk.

Psoriasis. Evidence: 6/10. Source: PMID 26974007. Lowered Risk.

Showing effects for T/G genotype

Crohn's Disease. Evidence: 8/10. Source: PMID 17435756. Reduced Risk.

Ulcerative Colitis. Evidence: 6/10. Source: PMID 26974007. Reduced Risk.

Ankylosing Spondylitis. Evidence: 6/10. Source: PMID 26974007. Reduced Risk.

Rheumatoid Arthritis. Evidence: 6/10. Source: PMID 33686288. Reduced Risk.

Psoriasis. Evidence: 6/10. Source: PMID 26974007. Reduced Risk.

What TT Genotype Means

What this genotype means for the people who carry it

Sample genotype: TT (Homozygous)

Carrying two copies of the common T allele at this locus represents the baseline genetic risk for several chronic inflammatory conditions. Large-scale genome-wide association studies have shown that individuals with the T/T genotype have a higher relative risk of developing Crohn disease compared to those carrying the protective G allele [1]. This variant is located within the IL23R gene, which is crucial for regulating the body's inflammatory response [2]. Without the protective G allele, the immune system maintains a standard level of susceptibility to autoimmune disorders like ankylosing spondylitis and psoriasis [2]. While this genotype does not guarantee the development of any disease, it lacks the protective benefit against mucosal inflammation seen in G allele carriers [3]. Maintaining a healthy lifestyle and monitoring for digestive or joint symptoms remains standard practice.

Typical susceptibility to inflammatory bowel diseases; Standard baseline risk for ankylosing spondylitis.

What GG Genotype Means

Sample genotype: GG (Homozygous)

Carrying two copies of the protective G allele provides the most robust genetic protection against Crohn disease, reducing the relative risk by approximately 35% compared to the common genotype [1]. This homozygous genotype is associated with a highly regulated immune response, preventing the hyper-activation of the interleukin-23 pathway that typically triggers chronic mucosal inflammation [2]. Beyond inflammatory bowel disease, the G/G genotype is consistently linked to a significantly decreased susceptibility to other autoimmune conditions, including ankylosing spondylitis, psoriasis, and ulcerative colitis [2]. Clinical cohorts have shown that individuals with this genetic profile are less likely to develop severe inflammatory symptoms or require aggressive immunosuppressive therapies [3]. This variant serves as a prime example of a natural genetic shield against chronic inflammatory disorders.

Strongest genetic protection against Crohn disease; Significantly reduced risk of ankylosing spondylitis and psoriasis.

What TG Genotype Means

Sample genotype: TG (Heterozygous)

Having one copy of the protective G allele significantly lowers the likelihood of developing Crohn disease compared to the typical T/T genotype [1]. This protective effect is thought to stem from altered signaling within the interleukin-23 pathway, which reduces the overactive immune responses that drive chronic gut inflammation [2]. Research indicates that this single protective allele also extends moderate defense against other autoimmune conditions, such as ankylosing spondylitis and psoriasis [2]. Clinical studies have observed that carriers of the G allele tend to experience milder inflammatory phenotypes and fewer severe symptoms [3]. This genetic marker highlights how subtle variations in immune receptors can naturally buffer the body against chronic inflammation.

Lowered risk of developing Crohn disease; Moderate protection against joint and skin inflammation.

Related Variants

Variants with shared genetic architecture

rs11209026 · IL23R Gene · Chr 1 · Autoimmune Disease Risk

rs11465804 · IL23R Gene · Chr 1 · Inflammatory Disease Risk

rs1004819 · IL23R Gene · Chr 1 · Crohn's Disease Risk

Sources

Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.

Association between genetic variants in the IL-23R gene and early-onset Crohn's disease: results from a case-control and family-based study among Canadian children.

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes.

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Content updated August 2026.

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