What you carry at this position in your DNA and what research says about it.
Autoimmune Disease Risk: 8/10 evidence, 16 publications.
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Sample genotype (not yours): T/T
Higher Lupus Risk and Typical Cholesterol
This genotype is associated with an increased risk of developing systemic lupus erythematosus and a higher susceptibility to rare, severe cold medicine-related skin reactions. However, it offers protection against inflammatory bowel disease.
What this genotype means: Increased risk of systemic lupus erythematosus; Increased susceptibility to cold medicine-related SJS/TEN; Lower risk of inflammatory bowel disease.
Sample genotype (not yours): G/G
Lower Lupus Risk but Higher IBD Risk
This genotype offers strong protection against systemic lupus erythematosus and severe drug-induced skin reactions, but is associated with an increased risk of inflammatory bowel disease and higher HDL cholesterol.
What this genotype means: Significantly lower risk of systemic lupus erythematosus; Increased risk of inflammatory bowel disease; Higher HDL cholesterol levels.
Sample genotype (not yours): T/G
Increased Autoimmune Risks and Slightly Higher HDL
This genotype presents a mixed autoimmune profile, with moderately increased risks for both systemic lupus erythematosus and inflammatory bowel disease, alongside slightly elevated HDL cholesterol.
What this genotype means: Moderately increased risk of systemic lupus erythematosus; Moderately increased risk of inflammatory bowel disease; Slightly higher HDL cholesterol.
Gene function and biological role
Gene Function: The IKZF1 gene encodes Ikaros, a crucial zinc-finger transcription factor that regulates the development and differentiation of lymphocytes, including B cells and T cells [1]. Ikaros plays a pivotal role in maintaining immune system balance and self-tolerance, preventing the immune system from attacking the body's own tissues [2]. Variations or altered expression of this gene can disrupt normal immune cell maturation, leading to aberrant inflammatory responses [3]. Consequently, IKZF1 is heavily implicated in the susceptibility to various autoimmune and inflammatory disorders [4].
Variant Impact: The rs4917014 variant is an intergenic genetic marker located upstream of the IKZF1 gene. This specific variant acts as a regulatory element that influences the alternative splicing of IKZF1 transcripts, specifically altering the ratio of the Ik1 and Ik2 protein isoforms [1]. By shifting this ratio, the variant modifies the functional activity of the Ikaros transcription factor in immune cells [3]. This molecular shift directly impacts immune regulation, altering susceptibility to autoimmune conditions like lupus and inflammatory bowel disease [2].
Key Insight: This variant acts as a genetic pivot, where the allele that increases the risk of systemic lupus erythematosus actually decreases the risk of inflammatory bowel disease.
Location: IKZF1. Chromosome 7 · 7p12.2 · 50.3 Mb
Estimated prevalence by population
Global 55.0%; European 45.6%; African 83.7%; East Asian 43.8%; South Asian 56.1%; Americas 27.1%; Ashkenazi 50.9%; Finnish 50.2%; Middle Eastern 39.6%; Amish 66.9%.
Estimated TT genotype frequency.
Global 36.2%; European 43.9%; African 15.5%; East Asian 44.8%; South Asian 37.6%; Americas 49.9%; Ashkenazi 40.9%; Finnish 41.3%; Middle Eastern 46.7%; Amish 29.8%.
Estimated TG genotype frequency.
Global 8.8%; European 10.6%; African 0.7%; East Asian 11.4%; South Asian 6.3%; Americas 23.0%; Ashkenazi 8.2%; Finnish 8.5%; Middle Eastern 13.7%; Amish 3.3%.
Estimated GG genotype frequency.
Showing effects for T/T genotype
Immunity & Inflammation
Autoimmune Diseases
Lupus. Evidence: 8/10. Source: PMID 19838193. Highest Risk.
Chronic Inflammatory Diseases
Inflammatory Bowel Disease. Evidence: 5/10. Source: PMID 37262302. Lowest Risk.
Cardiovascular & Metabolic
Lipids & Cholesterol
HDL Cholesterol. Evidence: 8/10. Source: PMID 24097068. Typical Levels.
Pharmacogenomics
Adverse Drug Reactions
Severe Skin Drug Reaction. Evidence: 4/10. Source: PMID 25672763. Highest Risk.
Showing effects for G/G genotype
Lupus. Evidence: 8/10. Source: PMID 19838193. Lowest Risk.
Inflammatory Bowel Disease. Evidence: 5/10. Source: PMID 37262302. Highest Risk.
HDL Cholesterol. Evidence: 8/10. Source: PMID 24097068. Higher Levels.
Severe Skin Drug Reaction. Evidence: 4/10. Source: PMID 25672763. Lowest Risk.
Showing effects for T/G genotype
Lupus. Evidence: 8/10. Source: PMID 19838193. Increased Risk.
Inflammatory Bowel Disease. Evidence: 5/10. Source: PMID 37262302. Increased Risk.
HDL Cholesterol. Evidence: 8/10. Source: PMID 24097068. Slightly Higher.
Severe Skin Drug Reaction. Evidence: 4/10. Source: PMID 25672763. Increased Risk.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Carrying two copies of the T allele is a well-documented risk factor for systemic lupus erythematosus, particularly in East Asian and European populations [1]. Research indicates that this genotype influences the expression of the IKZF1 gene, which can lead to immune system dysregulation [2]. In addition to lupus, this genotype is linked to a higher susceptibility to Stevens-Johnson syndrome and toxic epidermal necrolysis when taking certain cold medications [3]. Conversely, this genetic profile appears to be highly protective against inflammatory bowel disease [4]. Individuals with this genotype also tend to have typical levels of HDL cholesterol and apolipoprotein A1 [5].
Increased risk of systemic lupus erythematosus; Increased susceptibility to cold medicine-related SJS/TEN; Lower risk of inflammatory bowel disease.
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele provides significant protection against the development of systemic lupus erythematosus [1]. This protective effect is thought to be mediated by a favorable ratio of Ikaros protein isoforms that helps maintain immune tolerance [2]. This genotype also dramatically reduces the risk of experiencing severe, life-threatening skin reactions like Stevens-Johnson syndrome from cold medications [2]. However, this immune profile comes with a trade-off, as it is associated with an increased risk of inflammatory bowel disease [3]. Additionally, individuals with this genotype tend to have higher levels of cardioprotective HDL cholesterol and apolipoprotein A1 [4].
Significantly lower risk of systemic lupus erythematosus; Increased risk of inflammatory bowel disease; Higher HDL cholesterol levels.
Sample genotype: TG (Heterozygous)
Having one copy of each allele results in a complex immunological profile due to competing genetic influences. This intermediate genotype is associated with a moderate increase in the risk of systemic lupus erythematosus compared to the G/G genotype [1]. Simultaneously, the presence of the G allele slightly elevates the risk of developing inflammatory bowel disease [2]. On the metabolic side, this genotype is associated with slightly higher levels of beneficial HDL cholesterol and apolipoprotein A1 [3]. It also carries a moderate susceptibility to severe adverse skin reactions, such as Stevens-Johnson syndrome, when exposed to certain cold medications [4].
Moderately increased risk of systemic lupus erythematosus; Moderately increased risk of inflammatory bowel disease; Slightly higher HDL cholesterol.
Variants with shared genetic architecture
rs6592965 · IKZF1 Gene · Chr 7 · Red Blood Cell Size
rs11978267 · IKZF1 Gene · Chr 7 · Leukemia and Diabetes Risk
rs4132601 · IKZF1 Gene · Chr 7 · Childhood Leukemia Risk
Genetics of 35 blood and urine biomarkers in the UK Biobank.
Content updated August 2026.
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