Leptin plays an important role in carcinogenesis as leptin/leptin receptor signaling promotes the angiogenesis, proliferation, and inhibits epithelial cell apoptosis. Variants in the leptin receptor gene have potential associations with renal cell carcinoma (RCC). We aimed to investigate association of rs1137101 (A/G) polymorphism at LEPR gene with risk of RCC and patients survival. 123 individuals were classified into group I: 73 RCC patients and group II: 50 healthy controls. Genotyping of the Gln223Arg (A/G) polymorphism rs1137101 at LEPR gene was analyzed using allelic discrimination assay by Real-Time PCR technique. GG genotype was the most frequent among RCC patients (67.1%), while AA genotype was the most frequent in controls (60%); (p < 0.001). By univariate cox regression: gene polymorphism (GG versus GA +AA), stage, histopathologic subtype, and grade were found to affect survival significantly; however, the multivariate analysis showed that only gene polymorphism (GG versus GA +AA) and tumor stage significantly affect survival. LEPR gene variants rs1137101 might be a candidate risk factor for RCC in Egypt. GG genotype is associated with more aggressive tumor behavior and shorter survival compared with GA & AA genotypes so, genotyping of Gln223Arg (A/G) rs1137101 could also predict RCC outcome.

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Systemic lupus erythematosus (SLE) is an autoimmune disease with complex etiology. Genetic aberrations disrupting the immune regulatory mechanisms may initiate autoimmune disease development. Recent studies have proved that the interferon regulatory factor 5 (IRF5) gene is an important risk factor for SLE. We aimed to investigate the association of the rs2004640 polymorphism within the IRF5 gene with SLE and lupus Nephritis and SLE activity in a sample of adult Egyptian population. 199 individuals were classified into: group I: included 118 patients who were further subdivided into 57 patients with and 61 patients without lupus nephritis respectively and group II: 81 healthy subjects as controls. Genotyping of the SNP rs2004640 at IRF5 gene was analyzed via allele discrimination assay using Real-Time PCR. TT genotype was the most abundant among SLE patients (p=0.001), but GG genotype was the most abundant in controls (p=0.001) while, genotype frequency showed no significant statistical difference between lupus patients with and without nephritis (p= 0.2, 0.1 respectively). The multivariate analysis of prediction of SLE activity [assessed by systemic lupus erythematosus disease activity index (SLEDAI) scoring] showed that the protein/creatinine ratio (95% CI, 0.001 to 0.002) and anti-dsDNA (95% CI, 0.005 to 0.1) were independent factors of SLE activity (OR=0.001 and 0.008 respectively). IRF5 gene polymorphism (rs2004640) might be candidate risk factor for developing SLE but not risk factor for lupus nephritis or the disease activity in a sample of adult Egyptian population.