Nermeen Hassan
Suez Canal University, Egypt
Title: Assessment of cluster differentiation 40 single nucleotide polymorphism (rs4810485) among systemic lupus erythematosus patients and correlation with clinical picture of the disease
Biography
Biography: Nermeen Hassan
Abstract
Background: Systemic lupus erythematosus (SLE) is a multifactorial, systemic, chronic autoimmune disease affecting connective tissue. A number of genetic susceptibility loci, conferring high risk for SLE, have been identified. Current evidence shows that the cluster of differentiation (CD) 40-CD40 ligand (L) system plays a crucial role in the development, progression and outcome of SLE. There were no previous studies, to our knowledge, about CD40 single-nucleotide polymorphism (SNP) among Egyptian SLE patients.
Aim: The aim of this work is to compare the frequency of CD40 SNP among patients with SLE versus healthy controls and to evaluate the relationship between CD40 SNP and the clinical picture of the disease.
Methods: The sample populations included two groups; 78 patients of SLE and 78 subjects of healthy control. The study was conducted at Physical Medicine, Rheumatology and Rehabilitation department of Suez Canal University Hospital. Genotyping for CD40 rs4810485 was performed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP).
Results: GG and TT genotypes were significantly higher among SLE group (41.0% and 15.4%, respectively) in comparison to control group (10.3% and 2.6%, respectively) (p<0.0001). G allele was higher among SLE group versus control group (62.8% and 53.8%, respectively), but without significant difference (p>0.05). GG and TT genotypes carry significantly higher risk in SLE group versus control group (OR=6.1 and 6.9, respectively) (p<0.0001), which mean more than 6-folds risk. G allele carry higher risk in SLE group versus control group (OR=1.4), but without significant difference (p>0.05). The frequencies of skin rash, lupus nephritis, pyuria, urinary casts, hypocomplementemia C4, leucopenia and lymphopenia were significantly higher among patients with genotype GG versus patients with genotypes GT & TT in SLE group.
Conclusions: GG and TT genotypes were significantly higher and carry higher risk in SLE group versus control group. There was significant relationship between CD40 SNP and some features of SLE.