Interleukin 1 receptor associated kinase 1 gene polymorphism association with risk of rheumatological diseases in Egyptian population.

BACKGROUND: Interleukin-1 receptor-associated kinase1 (IRAK1) plays a considerable role in the inflammatory signaling pathway. The current study aimed to identify any association between (rs1059703) single nucleotide polymorphism (SNP) and vulnerability to rheumatological diseases in the pediatric and adult Egyptian population.

PATIENTS AND METHODS: The current study included four patient groups: adult Systemic lupus erythematosus (SLE), Rheumatoid arthritis (RA), juvenile systemic lupus erythematosus (JSLE), and juvenile idiopathic arthritis (JIA). Two healthy matched age and sex groups were included as controls. Genotypes of IRAK1 (rs1059703) SNP in patients and controls were determined using the TaqMan allelic discrimination method.

RESULTS: The frequency of AA homozygous genotype and allele A of IRAK1 (rs1059703) SNP is higher in adult SLE patients compared to adult healthy controls (p-value < 0.005). No similar association was detected regarding RA, JSLE, or JIA. However, JSLE patients carrying the A allele have a higher SLE International Collaborating Clinics (SLICC) damage index (SDI) SDI score and a higher stage of renal biopsy than those carrying the G allele (p-value < 0.005).

CONCLUSIONS: Carriers of the A allele and its homozygous genotype of rs1059703 SNP are more prone to develop SLE in adult life and to have a more severe form of the disease in children in Egypt. No significant association was detected between this SNP and RA or JIA.