Objective. To test the association of osteopontin (OPN) polymorphisms with systemic lupus erythematosus (SLE).Methods. . These effects were independent of each other, i.e., not a consequence of linkage disequilibrium between the 2 alleles. The risk associated with a double dose of susceptibility alleles at both SNPs was 3.8-fold higher (95% CI 2.0-7.4) relative to the complete absence of susceptibility alleles. With regard to individual clinical and immunologic features, a significant association was seen between lymphadenopathy and ؊156 genotypes (overall P ؍ 0.0011, P corr ؍ 0.046). A significantly increased OPN serum level was detected in healthy individuals carrying ؉1239C (P ؍ 0.002), which is indicative of an association between the SLE susceptibility allele and OPN levels. Conclusion. These data suggest the independent effect of a promoter (؊156) and a 3 -untranslated region (؉1239) SNP in SLE susceptibility. We can speculate that these sequence variants (or others in perfect linkage disequilibrium) create a predisposition to high production of OPN, and that this in turn may confer susceptibility to SLE.Systemic lupus erythematosus (SLE) is an autoimmune disease with a multifactorial etiology that is characterized by impaired T cell responses and dysregulation of B cell activation, leading to B cell hyperactivity and production of autoantibodies. Several lines of evi-
Many lines of evidence suggest that IL10 is a strong candidate gene for systemic lupus erythematosus (SLE) susceptibility. In our previously reported study an allele (IL10.G-140bp) of the microsatellite IL10.G located at position À1100 was significantly increased in Italian SLE patients in comparison with controls. Starting from this observation, we tested if sequence variations in the vicinity of IL10.G were more strongly associated with SLE. We performed a comprehensive association study including 26 SNPs (of which four were newly identified in the present study by DHPLC analysis) spanning 8.5 Kb of the 5 0 flanking and the transcribed region of the IL10 gene. The association study was performed by the DNA pool method on an extended panel of Italian patients (205) and controls (631). Haplotypic associations were studied by individual typing of seven selected markers surrounding IL10.G. Gene, genotype and haplotype frequencies were not significantly different in patients and controls. Thus the IL10.G microsatellite remains to date the only IL10 marker associated with SLE in our population. A meta-analysis of all published results indicates a possible direct role of the IL10.G repeat number in SLE susceptibiliy.
We report on a case of a 17-year-old female with systemic lupus erythematosus (SLE), with a clinical history of complex partial seizure, who developed a tonicoclonic crisis after receiving hydroxychloroquine for 2 weeks at a dosage of 200 mg/day (5 mg/kg). The absence of previous similar episodes and of recurrences after withdrawal of the drug in subsequent months, the short latency after administration and the favourable short-term evolution raised suspicions for a potential role of the drug in the development of the isolated convulsive crisis. It is possible for hydroxychloroquine to be responsible for tonicoclonic seizures in predisposed subjects.
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