白细胞介素1基因簇包含强直性脊柱炎的一个主要易感位点。
The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis.
作者信息
Timms Andrew E, Crane Alison M, Sims Anne-Marie, Cordell Heather J, Bradbury Linda A, Abbott Aaron, Coyne Mark R E, Beynon Owen, Herzberg Ibi, Duff Gordon W, Calin Andrei, Cardon Lon R, Wordsworth B Paul, Brown Matthew A
机构信息
Institute of Musculoskeletal Sciences, University of Oxford, Botnar Research Centre, Oxford, United Kingdom.
出版信息
Am J Hum Genet. 2004 Oct;75(4):587-95. doi: 10.1086/424695. Epub 2004 Aug 12.
Abstract
Ankylosing spondylitis (AS) is a common and highly heritable inflammatory arthropathy. Although the gene HLA-B27 is almost essential for the inheritance of the condition, it alone is not sufficient to explain the pattern of familial recurrence of the disease. We have previously demonstrated suggestive linkage of AS to chromosome 2q13, a region containing the interleukin 1 (IL-1) family gene cluster, which includes several strong candidates for involvement in the disease. In the current study, we describe strong association and transmission of IL-1 family gene cluster single-nucleotide polymorphisms and haplotypes with AS.
摘要
强直性脊柱炎（AS）是一种常见且具有高度遗传性的炎性关节病。尽管基因HLA - B27对该病的遗传几乎至关重要，但仅凭它不足以解释该疾病家族复发的模式。我们之前已证明AS与2q13染色体存在提示性连锁，该区域包含白细胞介素1（IL - 1）家族基因簇，其中包括几个参与该疾病的强有力候选基因。在当前研究中，我们描述了IL - 1家族基因簇单核苷酸多态性和单倍型与AS的强关联及传递情况。
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