ApaL1 urokinase and Taq1 vitamin D receptor gene polymorphisms in first-stone formers, recurrent stone formers, and controls in a Caucasian population.

The purpose of this study was to determine differences in genotype distribution and allele frequency of urokinase and vitamin D receptor (VDR) single nucleotide polymorphisms (SNPs) between first-stone formers, recurrent stone formers, and controls in a Caucasian population. A total of 86 first-stone formers, 78 recurrent stone formers, and 167 controls were included. Urokinase and VDR SNPs were tested by gene amplification followed by ApaL1 and Taq1 endonuclease digestion, respectively. Baseline variables, genotype, and allele frequencies were compared between the three groups, using descriptive statistics. Adjusted odds ratios were calculated to estimate the risk for recurrent urolithiasis associated with genotypes. We found that differences in the distribution of ApaL1 SNP and Taq1 SNP genotypes were statistically different between recurrent stone formers and first-stone formers, and between recurrent stone formers and controls. Allele frequency analysis showed that the T allele for ApaL1 SNP and the C allele for Taq1 SNP were significantly associated with recurrent urolithiasis. For Taq1 SNP, logistic regression analysis showed that the C/C genotype was associated with a more than threefold higher risk for recurrent urolithiasis. We conclude that ApaL1 and Taq1 SNPs of the urokinase and VDR genes are associated with recurrent urolithiasis in a Caucasian population.

The correlation between ferritin level and acute phase parameters in rheumatoid arthritis and systemic lupus erythematosus.

OBJECTIVE: In this study, we evaluated the relationship between ferritin levels and disease activation in rheumatoid arthritis (RA) patients. MATERIAL AND METHODS: We included 44 patients with RA, 20 patients with systemic lupus erythematosus (SLE), 25 patients with infection, 22 patients with malignancy, and 20 healthy control subjects. Erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), whole blood count, and serum iron parameters were determined in all cases. The joint findings in RA patients were recorded, and disease activity score (DAS) was calculated. In SLE patients, antinuclear antibody (ANA) and anti-dsDNA titers and C3 and C4 complement levels were determined. SLE disease activity index (SLEDAI) score was calculated. RESULTS: Serum ferritin levels in the RA, SLE, and control groups were lower than those in the infection and malignancy groups (p<0.05). The ferritin levels in the RA group did not differ significantly from the SLE and control groups. In RA patients, serum ferritin level had a positive correlation with ESR, CRP, RF, platelet count, and DAS score and had a negative correlation with hematocrit (all p values <0.05). In SLE patients, on the other hand, serum ferritin had a positive correlation with ANA, anti-dsDNA, and SLEDAI (all p values <0.05). According to DAS, ferritin level in inactive RA patients was lower than that in active RA patients. When transferrin saturation was considered, iron deficiency anemia was a quite frequent finding in both active and inactive RA patients. CONCLUSION: Interestingly, we observed that ferritin level in RA patients was similar to the control group; however, it was a good parameter of disease activation. This is because a reduction in storage iron and resultant iron deficiency anemia are very common in RA patients.

Association of vitamin D receptor gene Taq I polymorphism with recurrent urolithiasis in children.

OBJECTIVE: Urolithiasis has a strong familial component. However, to date, no specific genetic abnormality has been identified. It has been reported that allelic variation in the vitamin D receptor (VDR) gene may affect calcium absorption and excretion. Urolithiasis is a multifactorial disease in which both genetic and environmental factors have an effect on onset and severity of disease. In the present study, the role of Taq I polymorphism of vitamin D receptor gene in urolithiasis was studied. METHODS: Eighty children with calcium stone disease (40 with single episode of stone disease and 40 with recurrence) and 40 controls were enrolled. Polymorphic sites were amplified by polymerase chain reaction, digested with Taq I restriction enzymes and analyzed by gel electrophoresis. Allelic or genotypic frequencies were calculated and associations between them and the presence of hypercalciuria, family history and stone recurrence were evaluated. RESULTS: Incidence of Taq I tt genotypes was significantly higher in patients with recurrent calcium-stone disease compared to the controls. In addition, the frequency of the 't' allele was higher in recurrent calcium-stone formers. Taq I t allele was found to be associated with increased risk of recurrence. No association between Taq I polymorphism and a positive family history was found in the present study. The frequency of hypercalciuria was higher in patients with the 'tt' genotype. CONCLUSION: Taq I t allele of the VDR gene may be a risk factor for severe urolithiasis and recurrent stone disease.