作者
Adrian Cortes, WP Maksymowych, BP Wordsworth, RD Inman, Patrick Danoy, P Rahman, MA Stone, M Corr, Lianne S Gensler, D Gladman, A Morgan, H Marzo-Ortega, MM Ward, TJ Learch, JD Reveille, MA Brown, MH Weisman
发表日期
2015/7/1
期刊
Annals of the rheumatic diseases
卷号
74
期号
7
页码范围
1387-1393
出版商
BMJ Publishing Group Ltd
简介
Objective
To identify genetic associations with severity of radiographic damage in ankylosing spondylitis (AS).
Method
We 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<0.05 were genotyped in a further cohort of 830 AS cases; results were analysed both separately and in combination with the discovery phase data …
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