What you carry at this position in your DNA and what research says about it.
Lupus Risk: 9/10 evidence, 25 publications.
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Sample genotype (not yours): G/G
Typical Risk of Lupus
Presence of two copies of the common G allele is associated with a standard baseline risk for systemic lupus erythematosus.
What this genotype means: Typical risk of systemic lupus erythematosus; Normal immune cell debris clearance; Typical risk of lupus-related kidney complications.
Sample genotype (not yours): A/A
Significantly Increased Risk of Lupus
Presence of two copies of the risk-increasing A allele is associated with a significantly elevated risk of developing systemic lupus erythematosus.
What this genotype means: Significantly increased risk of systemic lupus erythematosus; Markedly reduced immune debris clearance; Elevated risk of lupus nephritis and discoid skin lesions.
Sample genotype (not yours): G/A
Increased Risk of Lupus
Presence of one copy of the risk-increasing A allele is associated with an approximately 1.8-fold increased risk of developing systemic lupus erythematosus.
What this genotype means: Approximately 1.8-fold increased risk of systemic lupus erythematosus; Reduced clearance of immune complexes; Slightly higher risk of lupus nephritis and skin rashes.
Gene function and biological role
Gene Function: The ITGAM gene encodes the alpha subunit of integrin alpha M, also known as CD11b [1]. This protein forms part of complement receptor 3, which is expressed on the surface of immune cells like macrophages and neutrophils [2]. Complement receptor 3 plays a critical role in the immune system by mediating cell adhesion, migration, and the phagocytosis of complement-coated foreign particles and debris [2]. It also helps clear immune complexes and regulates inflammatory signaling pathways [3].
Variant Impact: A missense mutation in the ITGAM gene changes the amino acid at position 77 from arginine to histidine (p.Arg77His) [1]. This alteration directly impairs the function of the CD11b protein, reducing its ability to bind to key ligands like iC3b, fibrinogen, and vitronectin [4]. Consequently, immune cells carrying this variant show a significant reduction in their ability to perform phagocytosis and clear cellular debris [2]. The variant also alters gene expression, leading to a dose-dependent decrease in ITGAM transcript levels in monocytes [4].
Key Insight: This variant is one of the strongest known genetic risk factors for systemic lupus erythematosus, yet it is classified as benign for rare, single-gene ITGAM disorders.
Location: ITGAM. Chromosome 16 · 16p11.2 · 31.3 Mb
Estimated prevalence by population
Global 79.6%; European 78.2%; African 80.0%; East Asian 98.8%; South Asian 87.0%; Americas 80.7%; Ashkenazi 71.8%; Finnish 77.7%; Middle Eastern 68.9%; Amish 65.4%.
Estimated GG genotype frequency.
Global 19.1%; European 20.4%; African 18.9%; East Asian 1.2%; South Asian 12.6%; Americas 18.3%; Ashkenazi 25.8%; Finnish 20.9%; Middle Eastern 28.2%; Amish 30.9%.
Estimated GA genotype frequency.
Global 1.2%; European 1.3%; African 1.1%; East Asian < 0.1%; South Asian 0.5%; Americas 1.0%; Ashkenazi 2.3%; Finnish 1.4%; Middle Eastern 2.9%; Amish 3.7%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Immunity & Inflammation
Autoimmune Diseases
Lupus. Evidence: 9/10. Source: PMID 18204448. Typical Risk.
Rheumatoid Arthritis. Evidence: 3/10. Source: PMID 31774828. Typical Risk.
Organ Systems
Skin & Hair Conditions
Discoid Lupus. Evidence: 3/10. Source: PMID 19939855. Typical Risk.
Kidney Function & Disease
Lupus Nephritis. Evidence: 3/10. Source: PMID 19939855. Typical Risk.
Showing effects for A/A genotype
Lupus. Evidence: 9/10. Source: PMID 18204448. ~2.3x Increased Risk.
Rheumatoid Arthritis. Evidence: 3/10. Source: PMID 31774828. Possibly Lower Risk.
Discoid Lupus. Evidence: 3/10. Source: PMID 19939855. Highly Increased Risk.
Lupus Nephritis. Evidence: 3/10. Source: PMID 19939855. Highly Increased Risk.
Showing effects for G/A genotype
Lupus. Evidence: 9/10. Source: PMID 18204448. ~1.8x Increased Risk.
Discoid Lupus. Evidence: 3/10. Source: PMID 19939855. Increased Risk.
Lupus Nephritis. Evidence: 3/10. Source: PMID 19939855. Increased Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Inheriting two copies of the common G allele means the CD11b protein functions normally [1]. Immune cells are able to efficiently clear cellular debris and immune complexes, preventing the build-up of waste that can trigger autoimmune reactions [2]. This normal clearance process helps maintain immune tolerance and keeps the baseline risk of systemic lupus erythematosus typical [1]. Additionally, this genotype is associated with a typical risk for specific lupus-related complications, such as lupus nephritis and discoid skin rashes [3]. There are no elevated risks for these autoimmune conditions linked to this genetic profile. Most populations globally carry this genotype as the major genetic baseline. It represents the standard, fully functional state of the complement receptor 3 pathway. No special clinical monitoring or precautions are typically indicated based on this genetic result.
Typical risk of systemic lupus erythematosus; Normal immune cell debris clearance; Typical risk of lupus-related kidney complications.
Sample genotype: AA (Homozygous)
Inheriting two copies of the A allele causes a pronounced impairment in the function of the CD11b protein [1]. The ability of immune cells to perform phagocytosis and clear away dying cells is significantly compromised [2]. This failure to clear cellular waste allows autoantigens to persist, driving the production of autoantibodies and chronic inflammation [3]. As a result, this genotype is associated with a more than 2-fold increased risk of systemic lupus erythematosus [4]. It also significantly elevates the risk of severe clinical manifestations of lupus, such as lupus nephritis and discoid skin lesions [5]. Interestingly, this same variant has been suggested to provide some protection against rheumatoid arthritis [6]. This genotype is relatively rare in most populations, occurring in only a small percentage of individuals. The biological impact represents a significant shift in how the innate immune system handles immune complexes. This genetic profile highlights a strong inherited predisposition to lupus-related autoimmune activity.
Significantly increased risk of systemic lupus erythematosus; Markedly reduced immune debris clearance; Elevated risk of lupus nephritis and discoid skin lesions.
Sample genotype: GA (Heterozygous)
Inheriting one copy of the A allele leads to a partial reduction in the function of the CD11b protein [1]. This impairment reduces the ability of immune cells to clear cellular debris and immune complexes, which can accumulate and trigger inflammatory responses [2]. Consequently, individuals with this genotype have an estimated 1.8-fold higher risk of developing systemic lupus erythematosus [3]. This genetic variant is also associated with an increased likelihood of developing specific lupus complications, including discoid skin rashes and kidney inflammation known as lupus nephritis [4]. However, some research suggests this variant might offer a slight protective effect against rheumatoid arthritis [5]. The overall impact of this single copy is moderate because the remaining G allele still produces functional protein. Environmental factors and other genetic variants also play a major role in whether autoimmune symptoms actually develop. Knowing this status can help provide a clearer picture of personal autoimmune predisposition.
Approximately 1.8-fold increased risk of systemic lupus erythematosus; Reduced clearance of immune complexes; Slightly higher risk of lupus nephritis and skin rashes.
Variants with shared genetic architecture
rs9888739 · ITGAM Gene · Chr 16 · Lupus and Kidney Risk
rs7097397 · WDFY4 Gene · Chr 10 · Autoimmune Disease Risk
rs8032939 · RASGRP1 Gene · Chr 15 · Rheumatoid Arthritis Risk
Content updated August 2026.
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