What you carry at this position in your DNA and what research says about it.
Immune System Balance: 10/10 evidence, 23 publications.
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Sample genotype (not yours): G/G
Typical Immune Balance and Standard Skin Cancer Risk
This genotype is associated with a typical, baseline risk for autoimmune conditions like multiple sclerosis and rheumatoid arthritis. However, it carries a slightly higher baseline risk for common skin cancers compared to those with the A allele.
What this genotype means: Typical risk of autoimmune diseases; Slightly higher baseline risk of non-melanoma skin cancers.
Sample genotype (not yours): A/A
Higher Autoimmune Risk but Lower Skin Cancer Risk
This genotype presents a distinct biological trade-off: a significantly higher risk of autoimmune diseases alongside a lower risk of developing common skin cancers.
What this genotype means: Increased risk of multiple sclerosis, rheumatoid arthritis, and vitiligo; Decreased risk of basal and squamous cell carcinomas.
Sample genotype (not yours): G/A
Slightly Elevated Autoimmune and Skin Cancer Risks
Carrying one copy of the A allele slightly reduces BACH2 expression, leading to a mild increase in autoimmune susceptibility. It also represents an intermediate state for skin cancer risk, as the immune system's surveillance is only partially altered.
What this genotype means: Slightly increased risk of rheumatoid arthritis and multiple sclerosis; Slightly increased risk of basal and squamous cell carcinomas.
Gene function and biological role
Gene Function: The BACH2 gene encodes a transcription factor that plays a critical role in maintaining immune system homeostasis [1]. It acts as a molecular brake on the immune system, preventing the overactivation of T cells and promoting the development of regulatory T cells [2]. Without sufficient BACH2 activity, the immune system can become hyperactive, leading to autoimmune responses where the body attacks its own tissues [1]. Conversely, BACH2 also helps regulate the body's response to cancers, as an active immune system is better at detecting and destroying abnormal cells [2].
Variant Impact: The rs72928038 variant is an intronic change in the BACH2 gene that directly alters a regulatory enhancer region active in T cells [1]. The minor A allele reduces the accessibility of this enhancer, leading to significantly decreased expression of the BACH2 gene [2]. This reduction in BACH2 expression removes the natural brakes on T cell activation, causing them to rapidly differentiate into inflammatory effector cells [1]. This genetic change creates a profound immunological trade-off, shifting the balance between autoimmune susceptibility and cancer surveillance [2].
Key Insight: This variant represents an evolutionary trade-off where a hyper-vigilant immune system increases the risk of autoimmune diseases but simultaneously protects against common skin cancers.
Location: BACH2. Chromosome 6 · 6q15 · 90.3 Mb
Estimated prevalence by population
Global 79.3%; European 69.7%; African 94.2%; East Asian 99.5%; South Asian 86.7%; Americas 73.1%; Ashkenazi 80.1%; Finnish 79.4%; Middle Eastern 80.0%; Amish 60.3%.
Estimated GG genotype frequency.
Global 19.1%; European 27.6%; African 5.7%; East Asian 0.5%; South Asian 12.8%; Americas 24.8%; Ashkenazi 18.8%; Finnish 19.4%; Middle Eastern 18.9%; Amish 34.7%.
Estimated GA genotype frequency.
Global 1.6%; European 2.7%; African 0.1%; East Asian < 0.1%; South Asian 0.5%; Americas 2.1%; Ashkenazi 1.1%; Finnish 1.2%; Middle Eastern 1.1%; Amish 5.0%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Immunity & Inflammation
Autoimmune Diseases
Rheumatoid Arthritis. Evidence: 8/10. Source: PMID 23143596. Typical Risk.
Multiple Sclerosis. Evidence: 8/10. Source: PMID 24076602. Typical Risk.
Graves' Disease. Evidence: 3/10. Source: PMID 22922229. Typical Risk.
Cancer & Oncology
Skin Cancer
Skin Cancer. Evidence: 10/10. Source: PMID 31174203. ~1.1x Increased Risk.
Organ Systems
Skin & Hair Conditions
Vitiligo. Evidence: 5/10. Source: PMID 27723757. Typical Risk.
Showing effects for A/A genotype
Rheumatoid Arthritis. Evidence: 8/10. Source: PMID 23143596. ~1.1x Increased Risk.
Multiple Sclerosis. Evidence: 8/10. Source: PMID 24076602. Increased Risk.
Graves' Disease. Evidence: 3/10. Source: PMID 22922229. ~1.2x Increased Risk.
Skin Cancer. Evidence: 10/10. Source: PMID 31174203. Lower Risk.
Vitiligo. Evidence: 5/10. Source: PMID 27723757. ~1.3x Increased Risk.
Showing effects for G/A genotype
Rheumatoid Arthritis. Evidence: 8/10. Source: PMID 23143596. Slightly Increased.
Multiple Sclerosis. Evidence: 8/10. Source: PMID 24076602. Slightly Increased.
Graves' Disease. Evidence: 3/10. Source: PMID 22922229. Slightly Increased.
Skin Cancer. Evidence: 10/10. Source: PMID 31174203. Slightly Increased.
Vitiligo. Evidence: 5/10. Source: PMID 27723757. Slightly Increased.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Carrying two copies of the common G allele ensures typical levels of BACH2 expression in T cells, which helps maintain standard immune regulation [1]. This typical expression keeps the immune system from becoming hyperactive, thereby maintaining a baseline risk for autoimmune disorders such as rheumatoid arthritis and multiple sclerosis [2]. However, because the immune system is not in a hyper-vigilant state, it is slightly less aggressive at patrolling and clearing abnormal skin cells [1]. As a result, this genotype is associated with a slightly higher risk of developing keratinocyte cancers, including basal cell and squamous cell carcinomas [3].
Typical risk of autoimmune diseases; Slightly higher baseline risk of non-melanoma skin cancers.
Sample genotype: AA (Homozygous)
Carrying two copies of the minor A allele causes a significant reduction in BACH2 expression, which removes key regulatory brakes on the immune system [1]. This hyper-reactive immune state greatly increases susceptibility to autoimmune disorders, including multiple sclerosis, rheumatoid arthritis, Graves' disease, and vitiligo [2]. However, this same highly active immune response enhances the body's natural tumor surveillance, making it highly efficient at identifying and destroying early-stage cancer cells [3]. As a result, individuals with this genotype have a significantly lower risk of developing non-melanoma skin cancers like basal cell and squamous cell carcinomas [3]. This classic evolutionary trade-off highlights how genetic variants can be highly protective in one context while increasing vulnerability in another.
Increased risk of multiple sclerosis, rheumatoid arthritis, and vitiligo; Decreased risk of basal and squamous cell carcinomas.
Sample genotype: GA (Heterozygous)
Having one copy of the minor A allele leads to a moderate reduction in the expression of the BACH2 regulatory gene in immune cells [1]. This reduction slightly lowers the threshold for T cell activation, which can marginally increase the risk of autoimmune conditions like multiple sclerosis, rheumatoid arthritis, and vitiligo [2]. At the same time, this intermediate immune state does not fully confer the protective skin cancer surveillance seen in individuals with two copies of the A allele [3]. Consequently, individuals with this heterozygous genotype may experience a slight elevation in both autoimmune susceptibility and common skin cancer risks compared to the respective protective baselines.
Slightly increased risk of rheumatoid arthritis and multiple sclerosis; Slightly increased risk of basal and squamous cell carcinomas.
Variants with shared genetic architecture
rs1847472 · BACH2 Gene · Chr 6 · Inflammatory Bowel Disease Risk
rs11755527 · BACH2 Gene · Chr 6 · Autoimmune Disease Risk
rs10488631 · TNPO3 Gene · Chr 7 · Autoimmune Disease Risk
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility.
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
Content updated August 2026.
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