Genetic relationships between systemic lupus erythematosus and a positive antinuclear antibody test in the absence of autoimmune disease
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View abstract on PubMed
Summary
This summary is machine-generated.Genetic factors linked to a positive antinuclear antibody (ANA) test in individuals without autoimmune disease primarily involve the HLA region, but heritability is low. There is limited genetic overlap between ANA positivity and systemic lupus erythematosus (SLE).
Area Of Science
- Genetics
- Immunology
- Rheumatology
Background
- Antinuclear antibody (ANA) positivity is common, but often occurs without defined autoimmune disease.
- Understanding the genetic underpinnings of ANA positivity is crucial for differentiating it from autoimmune conditions like systemic lupus erythematosus (SLE).
Purpose Of The Study
- To identify genetic factors associated with ANA positivity in individuals without autoimmune disease.
- To assess the genetic overlap between ANA positivity and SLE using polygenic risk scores.
Main Methods
- A genome-wide association study (GWAS) was conducted in European ancestry individuals with and without autoimmune disease.
- Meta-analysis of GWAS results and calculation of single nucleotide polymorphism (SNP) heritability for ANA positivity.
- Construction and comparison of polygenic risk scores (PRS) for ANA positivity and SLE across different cohorts.
Main Results
- A significant SNP association with ANA positivity was identified upstream of the TSBP1 gene in the HLA locus (rs1967688).
- SNP heritability for ANA positivity was low (h²SNP = 0.04).
- The PRS for SLE was significantly higher in SLE patients compared to ANA positive individuals, but did not differ between ANA positive, ANA negative, and general control groups.
Conclusions
- ANA positivity in the absence of autoimmune disease is genetically associated with the HLA region, but exhibits low overall heritability.
- There is limited genetic overlap between ANA positivity and SLE, as indicated by few shared SLE-associated SNPs and non-significant PRS associations.
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