Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Internal Medicine

Objectives: To investigate whether BsmI and FokI VDR gene polymorphisms could be susceptibility markers for SLE in Egyptian patients and to study their association with lupus activity and damage. Methods: Data were collected on 45 SLE patients and 40 healthy controls including demographics,SLE activity and damage. Serum 25(OH)D3 level was assessed. Genotyping for the VDR BsmI and FokI gene polymorphisms was performed by RFLP/PCR for only 34 SLE patients and 16 controls. Results:Lower base level 25(OH)D3 correlated negatively with SLEDAI score, damage score,anti dsDNA and complement consumption.There were no significant differences in genotype and allelic frequencies of FokI and BsmI polymorphisms between SLE patients and controls. There was a significant positive correlation between FokI polymorphisms and SLEDAI score (p = 0.021) and damage score (p = 0.002). There was also a significant association between FokI polymorphisms and the different vitamin D status in SLE patients (p=0.002) with a higher frequency of vitamin D insufficiency and deficiency in SLE patients carrying the FokI F/F genotype compared to those carrying the f/f and F/f genotypes. BsmI polymorphisms did not correlate with SLEDAI score and damage score, but showed significant associations with neuropsychiatric damage and disease activity variables of SLE as low complement, fever and mucosal ulcers. Conclusion : Low levels of vitamin D in SLE patients correlated with increasing disease activity and damage. FokI polymorphisms correlated significantly with SLEDAI score and damage score and showed a significant association with different vitamin D status in SLE patients.

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