Abstract
Systematic lupus erythematosus (SLE) is a multi system autoimmune disease characterized by autoantibodies production, multi-organ damage and complex genetic inheritance. Multiple genetic and environemental factors contribute to the pathogenesis of this disease. Recent genome-wide studies, have added substantially to the number of genes associated with SLE. We performed a case control study using 138 SNPs in 93 Tunisian patients affected with lupus and 162 healthy controls. All SNPs were genotyped in a Sequenom platform. To confirm some associations, associated SNPs were analyzed using logistic regression which allows the test of association with a given SNP by adjusting for the effect of confounding variables. Association was especially reported with rs3733197 (P=0.0026, OR=2.04), rs17266594 (P=0.046, OR=1.56) in BANK1 gene, rs2070197 (P=0.0016, OR=2.31), rs2004640 (P=0.024, OR=1.54), rs10954213 (P=0.035, OR=1.53) in IRF5 gene and rs7574865 (P=0.017, OR=1.77) in STAT4 gene: previously confirmed SLE susceptibility genes. rs1800629 (P=0.00036, OR=2.26), rs4147359 (P=0.026, OR=1.55) and rs11575812 (P=0.037, OR=1.57) of TNF-α, IR2RA and IL2 genes respectively were also associated with SLE. Haplotypic analysis reported 2 susceptibility haplotypes: TGG (P=0.00421, OR=1.87) in BANK1 and TCA (P=0.00177, OR=2.34) in IRF5 genes. Our results show that numerous genes, some with known immune related function predispose to lupus.
Highlights
Systemic lupus erythematosus (SLE) is an archetypal systemic autoimmune disease
The prevalence of the SLE and the severity of its manifestations vary among different populations; but the disease is more common in Asians (46.7/100.00)
Four of those 18 single nucleotide polymorphism (SNP) were located in CD3z, three in IFN regulatory factor 5 (IRF5), two in each of BANK1, IL2RB and JAK1 and one in each of IL2, IL2RA, STAT4, TNF-α and PTPN6
Summary
Systemic lupus erythematosus (SLE) is an archetypal systemic autoimmune disease. It is characterized by a diverse array of clinical symptoms, indicative of widespread immune- mediated damage. It is a heterogeneous disease with no single clinical or immunological features required to make a formal diagnosis [1]. The clinical manifestations of SLE, different from one patient to another, are characterized by the production of various antibodies, immune complex deposition and chronic, intense inflammation. The prevalence of the SLE and the severity of its manifestations vary among different populations; but the disease is more common in Asians (46.7/100.00). Genetic factors are known to play an important role in the disease as shown by sibling recurrence risk ratio of 20 and 10-fold excess in SLE concordance between monozygotic twins over dizygotic twins [3,4]
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