Clinical significance of vitamin D deficiency and receptor gene polymorphism in systemic lupus erythematosus patients

Introduction: The vitamin D receptor (VDR) gene is a candidate for susceptibility to autoimmune disorders. Aim of the work: To study the frequency of vitamin D deficiency in Egyptian systemic lupus erythematosus (SLE) patients and investigate the association of BsmI and FokI VDR gene polymorphisms with disease susceptibility, activity and damage. Patients and methods: Forty-five SLE patients and 40 controls were enrolled. SLE Disease Activity Index (SLEDAI) and Systemic Lupus International Collaborating Clinics (SLICC) damage index were assessed for the patients. Serum vitamin D levels were measured in all subjects. Genotyping for the VDR BsmI and FokI gene polymorphisms was performed by polymerase chain reaction and restriction fragment length polymorphism for only 34 patients and 16 controls. Results: The mean age of SLE patients was 28.8 ± 7.9 years and disease duration 11.3 ± 9.8 years. Vitamin D level was significantly lower in patients than control (p < 0.001) and significantly correlated with C3 and C4 levels (p < 0.001) and inversely with SLEDAI (p < 0.001), SLICC (p = 0.005), anti-ds DNA (p < 0.001) and ESR (p = 0.011). There were no significant differences in genotype and allelic frequencies of FokI and BsmI polymorphisms between patients and controls. There was a significant relation of FokI polymorphisms with serum vitamin D level (p = 0.002), SLEDAI (p = 0.021) and SLICC (p = 0.002). BsmI polymorphisms showed significant associations with neuropsychiatric damage, low complement, fever and mucosal ulcers. Conclusions: VDR FokI polymorphism in SLE patients is significantly related to low vitamin D level in SLE patients and both are associated with increasing disease activity and damage denoting important implications in this disease

Study of the LMNA 1908 C/T gene polymorphism in type 2 diabetic Egyptians with vascular complications

Aims/introduction Vascular complications are the main cause of morbidity and mortality in type 2 diabetic patients. Genetic susceptibility is associated with the evolution of diabetic complications. One such gene is the lamin A and C gene located on chromosome 1q21, a susceptibility locus for type 2 diabetes mellitus, and encodes nuclear lamins A and C. The LMNA 1908 C/T polymorphism has been reported to be associated with dyslipidemia, metabolic syndrome, and obesity, suggesting that this polymorphism increases the risk of atherosclerosis and vascular disease. The present study aims to elucidate the association between the LMNA 1908 C/T single nucleotide polymorphism and the prevalence of vascular complications in a sample of type 2 diabetic Egyptian patients. Materials and methods Genomic DNA from 47 type 2 diabetic patients with vascular complications and 20 control participants was analyzed for the LMNA 1908 C/T polymorphism using PCR-RFLP. Results Carriers of the LMNA 1908 T-allele showed a significantly higher prevalence in patients with diabetic nephropathy than carriers of the C-allele (P < 0.05). Multiple regression analysis showed that the LMNA 1908 T-allele tended to be independent risk factor for diabetic nephropathy (P = 0.012, odds ratio = 5.460). Conclusion The findings of this study suggest that the LMNA 1908 C/T single nucleotide polymorphism is associated with the development of diabetic nephropathy in Egyptian type 2 diabetic patients