What you carry at this position in your DNA and what research says about it.
Leukemia and Lymphoma Risk: 8/10 evidence, 13 publications.
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Sample genotype (not yours): C/C
Higher Lymphoma Risk but Lower Leukemia Risk
This genotype carries a higher risk for Hodgkin lymphoma but offers protection against acute lymphoblastic leukemia. It is also associated with a typical response to leukemia chemotherapy treatments.
What this genotype means: Increased risk of Hodgkin lymphoma; Typical baseline risk for acute lymphoblastic leukemia; Standard response to leukemia chemotherapy.
Sample genotype (not yours): A/A
Highest Leukemia Risk and Poorer Drug Response
This genotype is associated with the highest risk of B-cell acute lymphoblastic leukemia and a significantly poorer response to chemotherapy. However, it offers protection against Hodgkin lymphoma.
What this genotype means: Significantly increased risk of B-cell acute lymphoblastic leukemia; Poorer response to leukemia chemotherapy and higher relapse risk; Lower risk of Hodgkin lymphoma.
Sample genotype (not yours): C/A
Increased Leukemia Risk and Poorer Drug Response
This genotype is linked to a moderately higher risk of B-cell acute lymphoblastic leukemia. It may also lead to a less optimal response to certain chemotherapy medications.
What this genotype means: Moderately increased risk of B-cell acute lymphoblastic leukemia; Higher likelihood of poor response to leukemia chemotherapy; Slightly increased risk of autoimmune flare-ups.
Gene function and biological role
Gene Function: The GATA3 gene encodes a critical transcription factor that acts as a master regulator of the immune system. It plays an essential role in the development, differentiation, and maintenance of T-cells, particularly T helper 2 cells. GATA3 is also vital for the proper development of various non-immune tissues, including the kidneys, ears, and mammary glands. Genetic variations in this gene can alter immune cell balance, leading to susceptibility to cancers and autoimmune conditions.
Variant Impact: The rs3824662 variant is an intronic single-nucleotide polymorphism located within an enhancer region of the GATA3 gene. This genetic change alters the transcriptional activity of GATA3, leading to increased expression of the gene [1]. Elevated GATA3 levels impact immune cell signaling and have been strongly linked to susceptibility to childhood leukemia [2]. Additionally, this variant influences how patients respond to standard chemotherapy regimens during leukemia treatment [1].
Key Insight: This single genetic letter swap creates a biological trade-off, raising the risk for one type of blood cancer while lowering the risk for another.
Location: GATA3. Chromosome 10 · 10p14 · 8.1 Mb
Estimated prevalence by population
Global 68.0%; European 68.1%; African 81.2%; East Asian 49.7%; South Asian 64.5%; Americas 49.9%; Ashkenazi 57.4%; Finnish 57.5%; Middle Eastern 61.7%; Amish 52.7%.
Estimated CC genotype frequency.
Global 28.5%; European 28.8%; African 17.8%; East Asian 41.6%; South Asian 31.7%; Americas 41.5%; Ashkenazi 36.7%; Finnish 36.7%; Middle Eastern 33.7%; Amish 39.8%.
Estimated CA genotype frequency.
Global 3.6%; European 3.1%; African 1.0%; East Asian 8.7%; South Asian 3.9%; Americas 8.6%; Ashkenazi 5.9%; Finnish 5.8%; Middle Eastern 4.6%; Amish 7.5%.
Estimated AA genotype frequency.
Showing effects for C/C genotype
Cancer & Oncology
Blood Cancers
Leukemia. Evidence: 8/10. Source: PMID 23996088. Typical Risk.
Hodgkin Lymphoma. Evidence: 4/10. Source: PMID 35939300. ~1.52x Higher Risk.
Pharmacogenomics
Chemotherapy Response
Chemotherapy Response. Evidence: 5/10. Source: PMID 24141364. Typical Response.
Immunity & Inflammation
Autoimmune Diseases
Lupus. Evidence: 3/10. Source: PMID 30301440. Typical Risk.
Showing effects for A/A genotype
Leukemia. Evidence: 8/10. Source: PMID 23996088. ~1.77x Higher Risk.
Hodgkin Lymphoma. Evidence: 4/10. Source: PMID 35939300. Typical Risk.
Chemotherapy Response. Evidence: 5/10. Source: PMID 24141364. Poorer Response.
Lupus. Evidence: 3/10. Source: PMID 30301440. Increased Risk.
Showing effects for C/A genotype
Leukemia. Evidence: 8/10. Source: PMID 23996088. Increased Risk.
Hodgkin Lymphoma. Evidence: 4/10. Source: PMID 35939300. Slightly Increased.
Lupus. Evidence: 3/10. Source: PMID 30301440. Slightly Increased.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Carrying two copies of the C allele establishes a distinct immunological profile. Research shows this genotype is associated with an increased susceptibility to childhood Hodgkin lymphoma, with studies indicating an odds ratio of approximately 1.52 [1]. Conversely, this genetic profile is highly protective against B-cell childhood acute lymphoblastic leukemia, representing the baseline risk group [2]. Furthermore, in the rare event of a leukemia diagnosis, individuals with this genotype tend to show a more favorable response to standard chemotherapy drugs, with a lower likelihood of disease recurrence or high minimal residual disease [3]. The common nature of this genotype means it represents the standard baseline for most populations.
Increased risk of Hodgkin lymphoma; Typical baseline risk for acute lymphoblastic leukemia; Standard response to leukemia chemotherapy.
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele significantly increases susceptibility to B-cell childhood acute lymphoblastic leukemia, particularly the high-risk Philadelphia chromosome-like subtype [1]. This genotype is associated with an odds ratio of approximately 1.77 for developing acute lymphoblastic leukemia [2]. During treatment, individuals with this profile show a higher likelihood of disease recurrence and elevated minimal residual disease when receiving standard chemotherapy regimens [1]. On the other hand, this genetic makeup appears to be protective against Hodgkin lymphoma, presenting a lower risk compared to those carrying the C allele [3]. It is also linked to a higher susceptibility to autoimmune disorders like systemic lupus erythematosus [4].
Significantly increased risk of B-cell acute lymphoblastic leukemia; Poorer response to leukemia chemotherapy and higher relapse risk; Lower risk of Hodgkin lymphoma.
Sample genotype: CA (Heterozygous)
Inheriting one copy of the A allele alters the regulatory landscape of the GATA3 gene, leading to moderate changes in immune cell development. This intermediate state is associated with an elevated risk of developing B-cell childhood acute lymphoblastic leukemia [1]. Clinical studies also suggest that individuals with this genotype who undergo leukemia treatment may experience a higher rate of minimal residual disease and an increased likelihood of disease recurrence when treated with standard chemotherapy agents like methotrexate or cytarabine [2]. Additionally, this genetic variation has been studied for minor associations with autoimmune conditions such as systemic lupus erythematosus [3].
Moderately increased risk of B-cell acute lymphoblastic leukemia; Higher likelihood of poor response to leukemia chemotherapy; Slightly increased risk of autoimmune flare-ups.
Variants with shared genetic architecture
rs10795668 · GATA3 Gene · Chr 10 · Colorectal Cancer Risk
rs735665 · GRAMD1B Gene · Chr 11 · Leukemia Risk
rs872071 · IRF4 Gene · Chr 6 · Lymphatic Cancer Risk
GATA3 rs3824662 gene polymorphism as possible risk factor for systemic lupus erythematosus.
Content updated August 2026.
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