BackgroundThe development of Systemic Lupus Erythematosus (SLE) depends inter alia on genetic factors including genes involved in oxidative stress and angiogenesis as NOS2 and VEGF. The aim of our study is to evaluate the Single Nucleotide Polymorphisms (SNPs) influence of NOS2 gene (rs2779248, rs2779251 and rs8078340) and VEGF gene (rs1570360 and rs2010963) on SLE development in Algerian patients.MethodsThis is a case-control study of 157 SLE patients (age: 37±2 years, sex ratio: 1: 10, disease duration: 7.6±4.3 years, SLEDAI: 7.3±6.1) and 173 healthy controls (age: 28±9 years, sex ratio: 1: 7). We performed NOS2 and VEGF genes SNPs genotyping TaqMAN technology and we respected the Hardy-Weinberg equilibrium.ResultsFirst, we analyzed the allele frequency of NOS2 and VEGF genes SNPs and we obtained for:NOS2 gene that rs2779248 T allele is associated to SLE’s development (OR 1.92) as well as rs2779251 T (OR 2.01) and rs8078340 A alleles (OR 5.00) unlike rs2779248 C, rs2779251 G and rs8078340 G alleles that are protective against SLE development (OR 0.52, 0.50 and 0.20).VEGF gene that rs2010963 C allele is associated SLE’s development (OR 1.86) unlike rs2010963 G allele that is protective (OR 0.54).Thereafter, we analyzed the genotype frequency and we got for:NOS2 gene that rs2779248 CT genotype is associated to SLE’s development (OR 2.01) as well as rs2779251 GG (OR 1.62) and rs8078340 AA genotypes (OR 3.41) inversely to rs2779248 CC, rs2779251 TT and rs8078340 GG genotypes that are protective (OR 0.35, 0.24 and 0.20).VEGF gene that rs1570360 GG genotype is associated to SLE’s development (OR 1.73) as well as rs2010963 CC genotype (OR 2.91) unlike rs1570360 AG and rs2010963 GG genotypes that are protective (OR 0.51 and 0.58).Furthermore, we observed that the VEGF rs1570360 G allele was assiociated to lupus nephritis development (OR 3.51) as well as GG genotype (OR 3.82). Regarding the haplotype analysis, it showed for the NOS2 gene that AGG haplotype is associated to SLE’s development (OR 2.12) and that CGG is protective (OR 0.50). Finally, as a whole, our results are consistent with the literature data.ConclusionsAt the end of our study, we have demonstrated the role the NOS2 and VEGF genes SNPs in the genetic susceptibility to develop SLE in Algerian patients.Funding Source(s):Pasteur Institute of Algeria
Background ACPA finds its place in early RA diagnosis. Improvements are made in measurement of ACPA with recently designed fluorescent-based microparticles immunoassay which allows the simultaneous detection of 4 anti-CCP autoantibody specificities: anti-HCP1, anti-HCP2, anti-VCP1 and anti-VCP2. Objectives The aim of this work is to evaluate the performance of new anti-CCP multiplexing assay comparing to anti-CCP3 ELISA test. Methods Detection and measurement of ACPA by FIDIS™ anti-CCP (Theradiag) multiplexing assay were compared to the anti-CCP3 ELISA (INOVA) in 171 [98 anti-CCP3 (+), 73 anti-CCP3 (-)] sera patients with early arthritis. Results Global concordance was about 81% between FIDIS anti-CCP and anti-CCP3 (Table 1 and Table 2) while, for each of four FIDIS citrullinated peptides, this concordance is shown on Table 2. Table 1 FIDIS anti-CCP Positive Negative INOVA anti-CCP3 Positive 82 16 Negative 17 56 Table 2 Concordance with anti-CCP3 (%) All citrullinated peptides 81 HCP1 64 HCP2 74 VCP1 68 VCP2 80 We observed a good concordance between two tests. Otherwise, it is noteworthy that among anti-CCP3 (-) patients, 17 (23%) were FIDIS anti-CCP (+). Among them, 53% recognize 1 citrullinated peptide, 35% 2 peptides and 6% 3 or 4 peptides. Thus, the FIDIS anti-CCP test increases the sensitivity of detection of ACPA compared to anti-CCP3 that have proven good diagnostic performance. However, some specificities are not detected by the new method comparatively to anti-CCP3. Conclusions FIDIS anti-CCP multiplexing assay shows good performance comparing to anti-CCP3 and must be assessed on larger series of patients with early RA compared to control populations. References Anzilotti C, Merlini G, Pratesi F, Tommasi C, Chimenti D, Migliorini P. Antibodies to viral citrullinated peptide in rheumatoid arthritis. J Rheumatol. 2006 Apr;33(4):647-51.Pratesi F., Tommasi C., Anzilotti C., Puxeddu I., Sardano E., Di Colo G., Migliorini P. Antibodies to a new viral citrullinated peptide, VCP2: fine specificity and correlation with anti-cyclic citrullinated peptide (CCP) and anti-VCP1 antibodies. Clin. Exp. Immunol. 2011, 164, 337. Disclosure of Interest None declared DOI 10.1136/annrheumdis-2014-eular.6049
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