1. Association study of genes related to bone formation and resorption and the extent of radiographic change in ankylosing spondylitis
- Author
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Cortes, A, Maksymowych, WP, Wordsworth, BP, Inman, RD, Danoy, P, Rahman, P, Stone, MA, Corr, M, Gensler, Lianne S, Gladman, D, Morgan, A, Marzo-Ortega, H, Ward, MM, SPARCC, TASC, Learch, TJ, Reveille, JD, Brown, MA, and Weisman, MH
- Subjects
Biomedical and Clinical Sciences ,Clinical Sciences ,Immunology ,Genetics ,2.1 Biological and endogenous factors ,Aetiology ,Musculoskeletal ,Adult ,Bone Resorption ,Cervical Vertebrae ,Cyclooxygenase 1 ,Exons ,Female ,Genetic Association Studies ,Genotype ,Haplotypes ,Humans ,Lumbar Vertebrae ,Male ,Middle Aged ,Osteogenesis ,Polymorphism ,Single Nucleotide ,Radiography ,Receptor Activator of Nuclear Factor-kappa B ,Severity of Illness Index ,Spondylitis ,Ankylosing ,SPARCC ,TASC ,Ankylosing spondylitis ,genetic association study ,x-ray ,Public Health and Health Services ,Arthritis & Rheumatology ,Clinical sciences - Abstract
ObjectiveTo identify genetic associations with severity of radiographic damage in ankylosing spondylitis (AS).MethodWe studied 1537 AS cases of European descent; all fulfilled the modified New York Criteria. Radiographic severity was assessed from digitised lateral radiographs of the cervical and lumbar spine using the modified Stoke Ankylosing Spondylitis Spinal Score (mSASSS). A two-phase genotyping design was used. In phase 1, 498 single nucleotide polymorphisms (SNPs) were genotyped in 688 cases; these were selected to capture >90% of the common haplotypic variation in the exons, exon-intron boundaries, and 5 kb flanking DNA in the 5' and 3' UTR of 74 genes involved in anabolic or catabolic bone pathways. In phase 2, 15 SNPs exhibiting p
- Published
- 2015