Annexin A1 and its receptor gene polymorphisms in systemic lupus erythematosus in the Tunisian population

Background An association between ANXA1 , FPR1 and FPR2 gene polymorphisms and the patho-physiology of many human diseases was suggested by numerous studies. Objective Our study aimed to evaluate association between common polymorphisms in the 9q21.13 and 19q13.41 and susceptibility to systemic lupus erythematosus (SLE) in the Tunisian population. Materials We performed a case–control study on 107 Tunisian SLE patients and 122 healthy controls to explore 9 polymorphisms of the three studied genes: rs2811226 and rs3739959 ( ANXA1 ), rs5030880, rs1042229, rs1461765570, rs17849971, rs867228 ( FPR1 ), rs17694990 and rs11666254 ( FPR2 ). Results Four polymorphisms were found to be linked with SLE susceptibility: rs3739959- ANXA1 > G and GG ( p = 0.021, OR = 1.73 and p = 0.014, OR = 2.06 respectively), rs867228- FPR1 > TT ( p = 0.014, OR = 4.59), rs11666254- FPR2 > GG ( p = 0.019, OR = 8.34) and rs17694990- FPR2 > T ( p = 0.05, OR = 1.506). In homogenous groups of SLE patients depending on clinical manifestations and serological results, previous associations were confirmed with a panoply of manifestations of lupus including lupus nephritis, malar rash, mouth ulceration and hypocomplementia. Conclusion Our study showed an association between ANXA1 > rs3739959, FPR1 > rs867228, FPR2 > rs11666254, FPR2 > rs17694990 and SLE susceptibility. Our results also showed a strong association between the two ANXA1 studied SNPs and LN which allowed us to suggest these two SNPs as biomarkers of LN development in SLE. Further research is needed to understand by which mechanism the gene variants affect susceptibility to SLE. Key Points • Lupus erythematosus is an autoimmune disease in which a panoply of factors are implicated • Annexin A1 interaction with its receptors are suggested as a target in therapy of a panoply of human disease in particular cancers • The present results highlighted the implication of Annexin A1 and its receptors gene polymorphisms in the physiopathology of lupus, in particular in the involvement of renal and cutaneous lesions