Mahdi Mahmoudi1, Masoud Garshasbi2, Amir Ashraf-Ganjouei1,3, Ali Javinani1,3, Mahdi Vojdanian1, Masoumeh Saafi4, Nooshin Ahmadzadeh1, Ahmadreza Jamshidi1. 1. Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. 2. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran. 3. Students' Scientific Research Center, Tehran University of Medical Sciences, Tehran, Iran. 4. Department of Genetics, Islamic Azad University, Tabriz Branch, Tabriz, Iran.
Abstract
BACKGROUND: Ankylosing Spondylitis (AS) is a chronic autoinflammatory Spondyloarthropathy (SpA) which is characterized by sacroiliitis, which progresses to the axial skeleton. It seems that non-Human Leukocyte Antigen (HLA) and also HLA-B27 are associated with the susceptibility and pathogenesis of the disease. The recent Ge-nome-Wide Association Studies (GWASs) have reported intergenic rs6759298 to be associated with AS etiology. The aim of this study was investigation of the rs6759298 polymorphism in Iranian AS patients. In addition, probable correlations with clinical indices and manifestations were considered. METHODS: This study included 403 patients with AS. The control group consisted of 506 healthy individuals who were matched for sex, age, and ethnicity with AS group. Genotyping of rs6759298 was determined using the Amplification-Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR). RESULTS: The GG genotype and G allele were found to be significantly more prevalent in the patient group in comparison to the control group [(p=2×10-6 and 7.44×10-9; OR (95% CI) =2.16 (1.56-2.98) and 1.73 (1.43-2.08)], respectively. CONCLUSION: No associations were found between patients with three genotypes and any disease manifestations or clinical indices. This investigation confirmed a highly significant association of rs6759298 with disease susceptibility, with no effect on disease progress or clinical presentations. Since rs6759298 belongs to the 2p15 gene desert, further studies would elucidate the exact role of this polymorphism in the pathogenesis of AS.
BACKGROUND: Ankylosing Spondylitis (AS) is a chronic autoinflammatory Spondyloarthropathy (SpA) which is characterized by sacroiliitis, which progresses to the axial skeleton. It seems that non-Human Leukocyte Antigen (HLA) and also HLA-B27 are associated with the susceptibility and pathogenesis of the disease. The recent Ge-nome-Wide Association Studies (GWASs) have reported intergenic rs6759298 to be associated with AS etiology. The aim of this study was investigation of the rs6759298 polymorphism in Iranian AS patients. In addition, probable correlations with clinical indices and manifestations were considered. METHODS: This study included 403 patients with AS. The control group consisted of 506 healthy individuals who were matched for sex, age, and ethnicity with AS group. Genotyping of rs6759298 was determined using the Amplification-Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR). RESULTS: The GG genotype and G allele were found to be significantly more prevalent in the patient group in comparison to the control group [(p=2×10-6 and 7.44×10-9; OR (95% CI) =2.16 (1.56-2.98) and 1.73 (1.43-2.08)], respectively. CONCLUSION: No associations were found between patients with three genotypes and any disease manifestations or clinical indices. This investigation confirmed a highly significant association of rs6759298 with disease susceptibility, with no effect on disease progress or clinical presentations. Since rs6759298 belongs to the 2p15 gene desert, further studies would elucidate the exact role of this polymorphism in the pathogenesis of AS.
Authors: M Mahmoudi; A A Amirzargar; A R Jamshidi; E Farhadi; S Noori; M Avraee; B Nazari; M H Nicknam Journal: Eur Cytokine Netw Date: 2011-12 Impact factor: 2.737
Authors: S Abtahi; A Farazmand; M Mahmoudi; A Ashraf-Ganjouei; A Javinani; B Nazari; H Kavosi; A A Amirzargar; A R Jamshidi; F Gharibdoost Journal: Int J Immunogenet Date: 2015-09-28 Impact factor: 1.466
Authors: Mohammad Hossein Nicknam; Mahdi Mahmoudi; Ali Akbar Amirzargar; Ahmad Reza Jamshidi; Nima Rezaei; Behrouz Nikbin Journal: Eur Cytokine Netw Date: 2009-03 Impact factor: 2.737
Authors: Amity R Roberts; Matteo Vecellio; Liye Chen; Anna Ridley; Adrian Cortes; Julian C Knight; Paul Bowness; Carla J Cohen; B Paul Wordsworth Journal: Ann Rheum Dis Date: 2016-02-25 Impact factor: 19.103
Authors: John D Reveille; Anne-Marie Sims; Patrick Danoy; David M Evans; Paul Leo; Jennifer J Pointon; Rui Jin; Xiaodong Zhou; Linda A Bradbury; Louise H Appleton; John C Davis; Laura Diekman; Tracey Doan; Alison Dowling; Ran Duan; Emma L Duncan; Claire Farrar; Johanna Hadler; David Harvey; Tugce Karaderi; Rebecca Mogg; Emma Pomeroy; Karena Pryce; Jacqueline Taylor; Laurie Savage; Panos Deloukas; Vasudev Kumanduri; Leena Peltonen; Sue M Ring; Pamela Whittaker; Evgeny Glazov; Gethin P Thomas; Walter P Maksymowych; Robert D Inman; Michael M Ward; Millicent A Stone; Michael H Weisman; B Paul Wordsworth; Matthew A Brown Journal: Nat Genet Date: 2010-01-10 Impact factor: 38.330
Authors: Helen Fussell; Darren Nesbeth; Izabela Lenart; Elaine C Campbell; Sarah Lynch; Susana Santos; Keith Gould; Simon J Powis; Antony N Antoniou Journal: Arthritis Rheum Date: 2008-11
Authors: Philip C Robinson; Theodora A M Claushuis; Adrian Cortes; Tammy M Martin; David M Evans; Paul Leo; Pamela Mukhopadhyay; Linda A Bradbury; Katie Cremin; Jessica Harris; Walter P Maksymowych; Robert D Inman; Proton Rahman; Nigil Haroon; Lianne Gensler; Joseph E Powell; Irene E van der Horst-Bruinsma; Alex W Hewitt; Jamie E Craig; Lyndell L Lim; Denis Wakefield; Peter McCluskey; Valentina Voigt; Peter Fleming; Mariapia Degli-Esposti; Jennifer J Pointon; Michael H Weisman; B Paul Wordsworth; John D Reveille; James T Rosenbaum; Matthew A Brown Journal: Arthritis Rheumatol Date: 2015-01 Impact factor: 10.995