The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis

被引：125

作者：

Timms, AE

Crane, AM

Sims, AM

Cordell, HJ

Bradbury, LA

Abbott, A

Coyne, MRE

Beynon, O

Herzberg, I

Duff, GW

Calin, A

Cardon, LR

Wordsworth, BP

Brown, MA

机构：

[1] Univ Oxford, Botnar Res Ctr, Nuffield Orthopaed Ctr, Inst Musculoskeletal Sci, Oxford OX3 7LD, England

[2] Wellcome Trust Ctr Human Genet, Oxford, England

[3] Addenbrookes Hosp, Cambridge Inst Med Res, Cambridge, England

[4] Univ Sheffield, Div Genom Med, Sheffield, S Yorkshire, England

[5] Royal Natl Hosp Rheumat Dis, Bath BA1 1RL, Avon, England

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2004年 / 75卷 / 04期

关键词：

D O I：

10.1086/424695

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：587 / 595

页数：9

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[1] Merlin-rapid analysis of dense genetic maps using sparse gene flow trees [J].