What you carry at this position in your DNA and what research says about it.
Autoimmune Disease Risk: 8/10 evidence, 40 publications.
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Sample genotype (not yours): A/A
Higher Colitis Risk but Lower Lupus Risk
This genotype is linked to an increased risk of inflammatory bowel diseases like ulcerative colitis, along with slightly higher cholesterol. However, it offers significant protection against lupus, vitiligo, and psoriasis.
What this genotype means: Increased risk of ulcerative colitis; Reduced risk of systemic lupus erythematosus; Slightly higher total cholesterol levels.
Sample genotype (not yours): A/G
Typical Autoimmune and Inflammatory Risk
This genotype represents a balanced genetic profile with typical risks for both autoimmune conditions and inflammatory bowel diseases. The opposing effects of the A and G alleles tend to offset each other.
What this genotype means: Typical risk for systemic lupus erythematosus; Typical risk for ulcerative colitis; Typical total cholesterol levels.
Sample genotype (not yours): G/G
Higher Risk of Lupus and Vitiligo
This genotype is associated with an increased susceptibility to several autoimmune conditions, including systemic lupus erythematosus and vitiligo. Conversely, it provides a protective effect against inflammatory bowel diseases.
What this genotype means: Increased risk of systemic lupus erythematosus; Increased risk of vitiligo; Reduced risk of ulcerative colitis.
Gene function and biological role
Gene Function: LOC105373724 is an uncharacterized genetic region situated adjacent to the well-studied IFIH1 gene on chromosome 2. The neighboring IFIH1 gene encodes a critical sensor of viral double-stranded RNA that triggers the body's innate immune response and interferon production. Because of their close physical proximity, genetic variants in this region are heavily linked to the regulation of IFIH1 expression. This close linkage means that variants in this genomic neighborhood directly influence how the immune system responds to viral threats and self-proteins. Consequently, this locus is a major hub for susceptibility to multiple autoimmune and inflammatory disorders.
Variant Impact: This variant is an intronic change within the LOC105373724 region, positioned in the genomic interval between the IFIH1 and FAP genes. It acts as a powerful expression quantitative trait locus that modulates the activity of the neighboring IFIH1 gene. By altering the expression levels of this viral sensor, the variant shifts the delicate balance of the immune system. This genetic toggle can either prime the immune system to be highly active, increasing autoimmune risks, or keep it more subdued. It represents a classic evolutionary trade-off where protecting against one class of diseases increases susceptibility to another.
Key Insight: This variant acts as an evolutionary double-edged sword, where the allele that protects you from inflammatory bowel disease simultaneously increases your risk for lupus and vitiligo.
Location: IFIH1. Chromosome 2 · 2q24.2 · 162.3 Mb
Estimated prevalence by population
Global 31.9%; European 15.2%; African 59.3%; East Asian 67.7%; South Asian 32.6%; Americas 31.0%; Ashkenazi 25.4%; Finnish 19.0%; Middle Eastern 25.0%; Amish 18.3%.
Estimated AA genotype frequency.
Global 44.0%; European 47.6%; African 35.4%; East Asian 29.2%; South Asian 49.0%; Americas 49.3%; Ashkenazi 50.0%; Finnish 49.2%; Middle Eastern 50.0%; Amish 48.9%.
Estimated AG genotype frequency.
Global 24.1%; European 37.2%; African 5.3%; East Asian 3.2%; South Asian 18.4%; Americas 19.6%; Ashkenazi 24.6%; Finnish 31.8%; Middle Eastern 25.0%; Amish 32.8%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Immunity & Inflammation
Autoimmune Diseases
Lupus. Evidence: 8/10. Source: PMID 26502338. Lower Risk.
Chronic Inflammatory Diseases
Ulcerative Colitis. Evidence: 8/10. Source: PMID 26192919. ~1.09x Higher Risk.
Organ Systems
Skin & Hair Conditions
Vitiligo. Evidence: 8/10. Source: PMID 22561518. Lower Risk.
Psoriasis. Evidence: 8/10. Source: PMID 23143594. Lower Risk.
Endocrine & Reproductive
Hormone Levels & Endocrine Regulation
Hypothyroidism. Evidence: 8/10. Source: PMID 30595370. Lower Risk.
Cardiovascular & Metabolic
Lipids & Cholesterol
Total Cholesterol. Evidence: 8/10. Source: PMID 30275531. Slightly Higher.
Showing effects for A/G genotype
Lupus. Evidence: 8/10. Source: PMID 26502338. Typical Risk.
Ulcerative Colitis. Evidence: 8/10. Source: PMID 26192919. Typical Risk.
Vitiligo. Evidence: 8/10. Source: PMID 22561518. Typical Risk.
Psoriasis. Evidence: 8/10. Source: PMID 23143594. Typical Risk.
Hypothyroidism. Evidence: 8/10. Source: PMID 30595370. Typical Risk.
Total Cholesterol. Evidence: 8/10. Source: PMID 30275531. Typical Levels.
Showing effects for G/G genotype
Lupus. Evidence: 8/10. Source: PMID 26502338. ~1.15x Higher Risk.
Ulcerative Colitis. Evidence: 8/10. Source: PMID 26192919. Lower Risk.
Vitiligo. Evidence: 8/10. Source: PMID 22561518. ~1.3x Higher Risk.
Psoriasis. Evidence: 8/10. Source: PMID 23143594. Increased Risk.
Hypothyroidism. Evidence: 8/10. Source: PMID 30595370. ~1.08x Higher Risk.
Total Cholesterol. Evidence: 8/10. Source: PMID 30275531. Slightly Lower.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele shifts the immune system's balance, resulting in a lower baseline of interferon-induced activity. This quieter immune state is highly protective against several classic autoimmune disorders. Research demonstrates a significantly reduced risk of systemic lupus erythematosus, vitiligo, and psoriasis for those with this genotype. However, this same immune profile is associated with a 1.09-fold increased risk of developing ulcerative colitis. It is also linked to slightly higher total cholesterol levels and higher eosinophil counts. This genotype represents a clear evolutionary trade-off between different types of inflammatory and autoimmune susceptibilities.
Increased risk of ulcerative colitis; Reduced risk of systemic lupus erythematosus; Slightly higher total cholesterol levels.
Sample genotype: AG (Heterozygous)
Carrying one copy of each allele results in an intermediate immune response profile, balancing the risks associated with each variant. The G allele slightly raises the risk for conditions like lupus and vitiligo, while the A allele slightly increases the susceptibility to inflammatory bowel diseases. Because these genetic influences pull in opposite directions, the overall risk for most of these conditions remains close to the population average. Studies across diverse populations indicate that heterozygotes do not show the pronounced risks or protective benefits seen in the homozygous genotypes. This genetic middle ground is very common globally, helping maintain a balanced immune defense. It represents a typical baseline for immune-mediated traits.
Typical risk for systemic lupus erythematosus; Typical risk for ulcerative colitis; Typical total cholesterol levels.
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele significantly alters immune system regulation, leading to a heightened state of antiviral readiness. This hyper-reactive state increases the risk of the immune system mistakenly attacking healthy tissues. Large-scale genetic studies show a 1.15-fold increased risk of systemic lupus erythematosus and a 1.3-fold increased risk of vitiligo for individuals with this genotype. It is also associated with a higher likelihood of developing psoriasis and hypothyroidism. Interestingly, this active immune profile appears to offer protection against certain gut-related inflammatory conditions, showing a lower risk of ulcerative colitis. It is also linked to slightly lower total cholesterol levels.
Increased risk of systemic lupus erythematosus; Increased risk of vitiligo; Reduced risk of ulcerative colitis.
Variants with shared genetic architecture
rs1990760 · IFIH1 Gene · Chr 2 · Autoimmune Disease Risk
rs3747517 · IFIH1 Gene · Chr 2 · Autoimmune Disease Risk
rs35667974 · IFIH1 Gene · Chr 2 · Autoimmune Disease Risk
Content updated August 2026.
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