KIAA0319L – Systemic Lupus Erythematosus

KIAA0319L has been implicated as a novel susceptibility locus for Systemic lupus erythematosus (SLE) in a pan-meta-analysis of two GWAS cohorts comprising 6,835 SLE cases and 14,274 controls (total n = 21,109), where the lead SNP near KIAA0319L reached genome-wide significance (P = 3.31 × 10⁻¹¹, OR = 1.49) (PMID:23740937). This association was replicated across independent SSc and SLE datasets, although no familial segregation data are available.

Expression profiling demonstrated that KIAA0319L transcript levels are significantly elevated in peripheral blood cells from SLE patients relative to healthy controls, suggesting a role in disease pathogenesis (PMID:23740937). While these findings establish reproducible genetic and expression-level correlations, mechanistic insights and monogenic segregation evidence are lacking. Together, current data provide limited support for KIAA0319L as an SLE susceptibility gene, underscoring the need for functional assays and additional epidemiological studies. Key take-home: KIAA0319L is a candidate risk locus for SLE but requires further validation before clinical implementation.

References

• Human Molecular Genetics • 2013 • A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. PMID:23740937

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