What you carry at this position in your DNA and what research says about it.
Autoimmune Disease Risk: 6/10 evidence, 46 publications.
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Sample genotype (not yours): C/C
Typical Autoimmune Risk
A typical baseline risk for autoimmune conditions like lupus and Graves disease characterizes this profile.
What this genotype means: Standard baseline risk for systemic lupus erythematosus; Standard baseline risk for Graves disease.
Sample genotype (not yours): A/A
Increased Autoimmune Risk
An increased risk of lupus and Graves disease is linked to this homozygous profile.
What this genotype means: Approximately 1.8x increased risk for systemic lupus erythematosus; Elevated susceptibility to Graves disease.
Sample genotype (not yours): C/A
An increased risk of developing lupus and Graves disease is associated with this genetic profile.
Gene function and biological role
Gene Function: The LTA gene encodes lymphotoxin alpha, a pro-inflammatory cytokine belonging to the tumor necrosis factor superfamily. It plays a critical role in regulating immune responses, cell survival, and the inflammatory cascade [1]. Because of its genomic proximity to the TNF gene, genetic variations in this region often influence the expression of both cytokines [2]. Dysregulation of these inflammatory pathways is heavily implicated in the pathogenesis of various autoimmune and infectious diseases [3].
Variant Impact: The rs1800630 variant, also known as the -863C/A promoter polymorphism, is located upstream of the TNF gene. This specific nucleotide change alters the binding site for transcription factors, thereby modifying the transcriptional regulation of TNF-alpha [2]. The minor A allele is associated with altered circulating levels of this key inflammatory cytokine [2]. Consequently, this genetic variation has been widely studied for its role in modulating susceptibility to chronic inflammatory and autoimmune conditions [4].
Key Insight: The minor A allele alters the binding of transcription factors, which directly impacts how the body regulates inflammatory responses. While this variant increases the risk for certain autoimmune conditions like lupus, it may simultaneously offer a protective effect against neurodegenerative processes.
Location: LTA. Chromosome 6 · 6p21.33 · 31.6 Mb
Estimated prevalence by population
Global 73.4%; European 71.3%; African 79.4%; East Asian 70.3%; South Asian 55.3%; Americas 74.2%; Ashkenazi 72.6%; Finnish 70.3%; Middle Eastern 74.0%; Amish 94.1%.
Estimated CC genotype frequency.
Global 24.5%; European 26.3%; African 19.4%; East Asian 27.1%; South Asian 38.1%; Americas 23.9%; Ashkenazi 25.2%; Finnish 27.1%; Middle Eastern 24.0%; Amish 5.8%.
Estimated CA genotype frequency.
Global 2.2%; European 2.4%; African 1.2%; East Asian 2.6%; South Asian 6.6%; Americas 1.9%; Ashkenazi 2.2%; Finnish 2.6%; Middle Eastern 1.9%; Amish 0.1%.
Estimated AA genotype frequency.
Showing effects for C/C genotype
Immunity & Inflammation
Autoimmune Diseases
Lupus. Evidence: 6/10. Source: PMID 18001298. Typical Risk.
Graves' Disease. Evidence: 3/10. Source: PMID 18472000. Typical Risk.
Rheumatoid Arthritis. Evidence: 6/10. Source: PMID 36762574. Typical Risk.
Neurology & Mental Health
Neurodegenerative Diseases
Alzheimer's Disease. Evidence: 3/10. Source: PMID 16908746. Typical Risk.
Showing effects for A/A genotype
Lupus. Evidence: 6/10. Source: PMID 18001298. ~1.8x Increased Risk.
Graves' Disease. Evidence: 3/10. Source: PMID 18472000. Increased Risk.
Rheumatoid Arthritis. Evidence: 6/10. Source: PMID 36762574. Altered Risk.
Alzheimer's Disease. Evidence: 3/10. Source: PMID 16908746. Reduced Risk.
Showing effects for C/A genotype
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Standard genetic baselines are typical for several autoimmune conditions with this profile. Studies have shown that individuals with this genotype do not carry the elevated risk for systemic lupus erythematosus seen in carriers of the minor allele [1]. Similarly, this profile is associated with a standard baseline risk for Graves disease, an autoimmune thyroid condition [2]. However, this genotype lacks the potentially protective effect against late-onset Alzheimer disease associated with the alternative allele [3]. Overall, this genetic makeup represents the typical inflammatory response profile found in the majority of the global population. Most people worldwide share this standard configuration. Maintaining a healthy lifestyle remains the primary way to support immune health.
Standard baseline risk for systemic lupus erythematosus; Standard baseline risk for Graves disease.
Sample genotype: AA (Homozygous)
Higher risk of several autoimmune conditions is associated with this homozygous profile. Clinical studies have demonstrated that individuals with this genotype face an estimated 1.8-fold increased risk of systemic lupus erythematosus [1]. This genetic profile is also linked to a higher susceptibility to Graves disease, an autoimmune thyroid disorder [2]. Conversely, this genotype may carry a protective benefit against late-onset Alzheimer disease, as noted in some clinical databases [3]. An altered transcriptional regulation of the TNF-alpha cytokine drives these diverse effects [4]. Such alterations can lead to a more pronounced inflammatory response under certain conditions. Possessing two copies of the minor allele makes these associations more consistent compared to single-copy carriers.
Approximately 1.8x increased risk for systemic lupus erythematosus; Elevated susceptibility to Graves disease.
Sample genotype: CA (Heterozygous)
Elevated susceptibility to certain autoimmune disorders is linked to this genetic profile. Research indicates that carriers of this genotype have an approximately 1.8-fold increased risk of developing systemic lupus erythematosus [1]. This genetic variant has also been associated with a higher likelihood of Graves disease, an autoimmune condition affecting the thyroid [2]. On the other hand, some clinical evidence suggests that the A allele may exert a protective effect against the development of late-onset Alzheimer disease [3]. The biological mechanism involves altered promoter activity that influences the production of key inflammatory cytokines like TNF-alpha [4]. These changes can modify how the immune system responds to chronic triggers. Understanding these risks can help in discussing overall immune health with a healthcare provider.
Variants with shared genetic architecture
rs2229094 · LTA Gene · Chr 6 · Gastric Cancer Risk
rs1799964 · LTA Gene · Chr 6 · Inflammatory Disease Risk
rs2229092 · LTA Gene · Chr 6 · Psoriasis Risk
Content updated August 2026.
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