What you carry at this position in your DNA and what research says about it.
Crohn's Disease Risk: 10/10 evidence, 30 publications.
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Sample genotype (not yours): C/C
Higher Crohn's Risk and Poorer Drug Response
A higher risk of Crohn's disease and less favorable responses to certain targeted therapies characterize this genetic profile. It is the less common profile in most populations.
What this genotype means: Higher risk of Crohn's disease; Shorter time to progression on imatinib; Decreased survival on sunitinib.
Sample genotype (not yours): C/G
Increased Crohn's Risk and Mixed Drug Response
An intermediate genetic profile is linked to an increased risk of Crohn's disease and varying responses to specific medications. It represents a moderate risk category.
What this genotype means: Increased risk of Crohn's disease; Decreased survival on sunitinib therapy; Better response to imatinib therapy.
Sample genotype (not yours): G/G
Typical Crohn's Risk and Better Drug Response
Normal carnitine transporter function maintains a typical risk of Crohn's disease and supports better outcomes with certain cancer therapies. It represents the most common genetic profile globally.
What this genotype means: Typical risk of Crohn's disease; Better response to imatinib therapy; Typical survival on sunitinib therapy.
Gene function and biological role
Gene Function: The SLC22A5 gene encodes the organic cation/carnitine transporter novel type 2 (OCTN2), which is crucial for transporting carnitine into cells [1]. Carnitine is essential for fatty acid beta-oxidation, a process that generates energy within mitochondria [1]. This transporter is highly expressed in tissues with high energy demands, such as the heart, skeletal muscle, and the intestinal mucosa [1]. Genetic variations in SLC22A5 can impair carnitine transport, leading to localized energy deficiency and inflammation in the gut [2]. Consequently, SLC22A5 is a well-established susceptibility gene for inflammatory bowel diseases, particularly Crohn's disease [2].
Variant Impact: The rs2631367 variant is a single nucleotide polymorphism located in the promoter region of the SLC22A5 gene [1]. This specific genetic change alters the transcriptional activity of the promoter, which directly influences the expression levels of the OCTN2 transporter [1]. A decrease in OCTN2 expression reduces cellular carnitine uptake, particularly in the epithelial cells of the colon [2]. This localized carnitine deficiency is thought to compromise the intestinal epithelial barrier, making it more susceptible to chronic inflammation [2]. The variant is part of a widely studied risk haplotype on chromosome 5q31 associated with inflammatory bowel disease [2].
Key Insight: The rs2631367 variant affects how the body transports carnitine, an essential nutrient for cellular energy, which directly impacts gut inflammation and drug responses.
Location: SLC22A5. Chromosome 5 · 5q31.1 · 132.4 Mb
Estimated prevalence by population
Global 17.4%; European 21.5%; African 15.6%; East Asian < 0.1%; South Asian 1.6%; Americas 14.8%; Ashkenazi 25.6%; Finnish 11.2%; Middle Eastern 19.5%; Amish 44.9%.
Estimated CC genotype frequency.
Global 46.0%; European 49.7%; African 47.8%; East Asian 0.6%; South Asian 22.3%; Americas 47.3%; Ashkenazi 50.0%; Finnish 44.5%; Middle Eastern 49.3%; Amish 44.2%.
Estimated CG genotype frequency.
Global 36.6%; European 28.7%; African 36.6%; East Asian 99.4%; South Asian 76.0%; Americas 37.8%; Ashkenazi 24.4%; Finnish 44.2%; Middle Eastern 31.2%; Amish 10.9%.
Estimated GG genotype frequency.
Showing effects for C/C genotype
Immunity & Inflammation
Chronic Inflammatory Diseases
Crohn's Disease. Evidence: 4/10. Source: PMID 15107849. Increased Risk.
Pharmacogenomics
Chemotherapy Response
Imatinib Response. Evidence: 5/10. Source: PMID 23127916. Typical Response.
Sunitinib Response. Evidence: 5/10. Source: PMID 28117434. Decreased Survival.
Cardiovascular & Metabolic
Blood Cell & Iron Traits
Mean Platelet Volume. Evidence: 9/10. Source: PMID 32888493. Higher Volume.
White Blood Cell Count. Evidence: 10/10. Source: PMID 34594039. Typical Count.
Showing effects for C/G genotype
Imatinib Response. Evidence: 5/10. Source: PMID 23127916. Stronger Response.
Mean Platelet Volume. Evidence: 9/10. Source: PMID 32888493. Typical Volume.
Showing effects for G/G genotype
Crohn's Disease. Evidence: 4/10. Source: PMID 15107849. Typical Risk.
Sunitinib Response. Evidence: 5/10. Source: PMID 28117434. Typical Survival.
White Blood Cell Count. Evidence: 10/10. Source: PMID 34594039. Higher Count.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Two copies of the C risk allele significantly increase the susceptibility to Crohn's disease [1]. This genotype leads to reduced expression of the OCTN2 transporter, impairing carnitine uptake and promoting chronic intestinal inflammation [1]. In oncology settings, the C/C genotype is associated with a shorter time to disease progression when treated with imatinib [2]. It is also linked to decreased survival rates during sunitinib therapy compared to those carrying the protective G allele [3]. On a systemic level, individuals with this profile tend to have higher mean platelet volumes, which can influence blood clotting dynamics [4]. Managing gut health through diet and regular check-ups is particularly relevant for individuals with this genetic profile. Discussing these genetic tendencies with a healthcare provider can assist in tailoring both gastrointestinal care and potential cancer treatment plans.
Higher risk of Crohn's disease; Shorter time to progression on imatinib; Decreased survival on sunitinib.
Sample genotype: CG (Heterozygous)
A single copy of the C risk allele is associated with an increased susceptibility to Crohn's disease [1]. The C allele reduces the expression of the OCTN2 carnitine transporter, which can impair carnitine uptake and compromise the intestinal barrier [1]. This genetic profile is also associated with a decreased survival rate when treated with sunitinib for gastrointestinal stromal tumors [2]. However, it offers a potential benefit during imatinib therapy, where carriers of the G allele show a prolonged time to disease progression compared to those with the CC genotype [3]. Additionally, individuals with this heterozygous genotype exhibit intermediate levels of mean platelet volume and white blood cell counts [4]. Knowing this status can help guide personalized monitoring for inflammatory bowel symptoms and inform treatment selection if certain therapies are required.
Increased risk of Crohn's disease; Decreased survival on sunitinib therapy; Better response to imatinib therapy.
Sample genotype: GG (Homozygous)
Presence of the G/G genotype is associated with typical, baseline susceptibility to Crohn's disease, as it maintains normal function of the carnitine transporter [1]. This genotype avoids the reduced carnitine uptake linked to the C risk allele, helping to preserve the integrity of the intestinal barrier [1]. In addition to gut health, this profile is linked to a more favorable response to imatinib therapy in patients with gastrointestinal stromal tumors, showing a significantly longer time to disease progression [2]. It is also associated with typical survival rates during sunitinib treatment, avoiding the decreased survival risk seen in C allele carriers [3]. Furthermore, G/G individuals tend to have slightly higher white blood cell counts and elevated levels of certain carnitine metabolites in the blood [4]. Overall, this genotype represents the protective baseline for inflammatory bowel disease risk.
Typical risk of Crohn's disease; Better response to imatinib therapy; Typical survival on sunitinib therapy.
Variants with shared genetic architecture
rs17622208 · SLC22A5 Gene · Chr 5 · Inflammatory Bowel Disease Risk
rs10761659 · ZNF365 Gene · Chr 10 · Crohn's Disease Risk
rs2066845 · NOD2 Gene · Chr 16 · Crohn's Disease Risk
Functional variants of OCTN cation transporter genes are associated with Crohn disease.
A cross-population atlas of genetic associations for 220 human phenotypes.
Content updated August 2026.
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