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Genetic load in incomplete lupus erythematosus
Matt Slief1,2, Joseph M Kheir1, Miles Smith1
1Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Lupus Science & Medicine
|January 4, 2023
Summary
Patients with incomplete lupus erythematosus (ILE) and systemic lupus erythematosus (SLE) share similar genetic predispositions, as indicated by comparable SLE risk allele genetic loads. Phenotypic differences may stem from ILE-specific variants and environmental factors.
Area of Science:
- Immunogenetics
- Rheumatology
- Genetics
Background:
- Incomplete lupus erythematosus (ILE) presents lupus features without meeting full systemic lupus erythematosus (SLE) classification criteria.
- While some ILE patients progress to SLE, many exhibit milder disease and avoid major organ damage.
- The genetic contribution to the distinct clinical courses of ILE and SLE remains unclear.
Purpose of the Study:
- To investigate whether the milder disease phenotype in ILE is associated with a reduced genetic load of SLE risk alleles compared to SLE.
- To compare the genetic load between patients with ILE, SLE, and healthy controls.
Main Methods:
- Calculated unweighted and weighted genetic loads based on 99 SLE-associated risk alleles.
- Enrolled European American patients with SLE (n=170), ILE (n=169), a subset of ILE not meeting SLICC criteria (ILESLICC, n=119), and healthy controls (n=133).
- Utilized receiver operator characteristic (ROC) analysis to assess the differentiating capacity of genetic load between ILE and SLE.
Main Results:
- Both ILE and SLE patients exhibited significantly higher genetic loads compared to healthy controls (p<0.05).
- No statistically significant difference in median genetic load was observed between ILE and SLE patients.
- ROC analysis confirmed that genetic load could not differentiate between ILE and SLE (AUC=0.51, p=0.78).
Conclusions:
- Patients with ILE and SLE possess comparable genetic loads for SLE risk loci, indicating similar underlying genetic susceptibility.
- The phenotypic distinctions between ILE and SLE are likely influenced by factors beyond the tested SLE risk alleles, such as ILE-specific genetic variants and gene-environment interactions.
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