Ankylosing spondylitis (AS) is a common, highly heritable arthropathy, the pathogenesis of which is poorly understood. The mechanism by which the main gene for the disease, HLA-B27, leads to AS is unknown. Genetic and genomic studies have demonstrated involvement of the interleukin-23 (IL-23) signaling pathway in AS, a finding which has stimulated much new research into the disease and has led to therapeutic trials. Several other genes and genetic regions, including further major histocompatibility complex (MHC) and non-MHC loci, have been shown to be involved in the disease, but it is not clear yet how they actually induce the condition. These findings have shown that there is a strong genetic overlap between AS and Crohn's disease in particular, although there are also major differences in the genes involved in the two conditions, presumably explaining their different presentations. Genomic and proteomic studies are in an early phase but have potential both as diagnostic/prognostic tools and as a further hypothesis-free tool to investigate AS pathogenesis. Given the slow progress in studying the mechanism of association of HLA-B27 with AS, these may prove to be more fruitful approaches to investigating the pathogenesis of the disease. © 2009 John Wiley & Sons A/S.

Genetics and genomics of ankylosing spondylitis

Background The risk of cardiovascular disease (CVD) due to early and pronounced atherosclerosis in patients with rheumatoid arthritis (RA) is 2-5-fold higher than in population. However, the early development of atherosclerosis is complicated by the combined influence of traditional risk factors and the chronic inflammatory process. According to previous data, the polymorphism of apolipoprotein E (ApoE), matrix metalloproteinase-3 (MMP3), interleukin- 6 (IL-6) -174 genes can be considered as one of the factors predisposing to the development of CVD in RA. Objectives The aim of our study was to determine polymorphic variants of ApoE, MMP3, IL-6 - 174 genes involved in the development of early atherosclerosis in patients with RA. Methods We examined 83 patients with RA, mean age 51,0 (38,0; 55,0) years old, disease duration 7,0 (3,0;15,0) years, disease activity 4,91 (4,52; 5,81) points. One hundred three healthy subjects at the mean age 42,0 (36,00; 51,00) years old were a control group. Different allelic variants of ApoE (ɛ3/ɛ3, ɛ3/ɛ4, ɛ2/ɛ3, ɛ2/ɛ4, ɛ4/ɛ4), MMP3 (5A/5A, 5A/6A, 6A/6A), and IL-6 - 174 (C/C, G/C, G/G) genes were revealed with the help of PCR-RFLP. The presence of atherosclerotic alterations of the common carotid artery (CCA) was revealed ultrasonographically according to standard procedures. Results Subclinical atherosclerosis, manifested by the atherosclerotic plaques of CCA, were 1,6 –fold more often in patients with RA than in controls, and were found in 31,33% and 19,42% cases, respectively. Homozygous alleles of ApoE ɛ3/ɛ3, heterozygous alleles of MMP3 5A/6A were detected more common in patients with RA and subclinical atherosclerosis. The frequency of these genes was 61,54% and 57,69%, respectively. Only homozygous alleles ApoE ɛ3/ɛ3 were more inherent in the control group (70,00%). Rare homozygous alleles ApoE ɛ4/ɛ4 were found only in patients with RA and was 7,69%. The combination of genotypes MMP3 5A/6A and Apo ɛ3/ɛ3 has been found in patients with RA and carotid atherosclerosis and was 53,33%. The combination of IL-6 - 174 C/C and Apo ɛ3/ɛ3 genotypes was detected commonly in the control group. Conclusions Thus, we have shown ApoE, MMP3, IL-6 - 174 gene polymorphisms in patients with RA and subclinical atherosclerosis. The presence of carotid atherosclerosis in patients with RA was associated with Apo ɛ3/ɛ3 and MMP3 5A/6A alleles and their combination. The atherosclerotic alterations in the control group were associated with the homozygous alleles Apo ɛ3/ɛ3 and its combination with IL-6 - 174 C/C genotype. Disclosure of Interest None declared DOI 10.1136/annrheumdis-2014-eular.5740

https://ard.bmj.com/content/annrheumdis/73/Suppl_2/807.1.full.pdf

AB0010 Polymorphisms of Genes in the Development of Subclinical Atherosclerosis in Patients with Rheumatoid Arthritis

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AB0010 Polymorphisms of Genes in the Development of Subclinical Atherosclerosis in Patients with Rheumatoid Arthritis