Arid
DOI10.1038/ng.513
Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci
Reveille, John D.1; Sims, Anne-Marie13; Danoy, Patrick13; Evans, David M.2; Leo, Paul13; Pointon, Jennifer J.3; Jin, Rui1; Zhou, Xiaodong1; Bradbury, Linda A.13; Appleton, Louise H.3; Davis, John C.4; Diekman, Laura1; Doan, Tracey13; Dowling, Alison13; Duan, Ran13; Duncan, Emma L.13; Farrar, Claire3; Hadler, Johanna13; Harvey, David3; Karaderi, Tugce3; Mogg, Rebecca5,6; Pomeroy, Emma5,6; Pryce, Karena13; Taylor, Jacqueline13; Savage, Laurie7; Deloukas, Panos8; Kumanduri, Vasudev8; Peltonen, Leena8; Ring, Sue M.2; Whittaker, Pamela8; Glazov, Evgeny13; Thomas, Gethin P.13; Maksymowych, Walter P.9; Inman, Robert D.10; Ward, Michael M.11; Stone, Millicent A.5,6,10; Weisman, Michael H.12; Wordsworth, B. Paul3; Brown, Matthew A.3,13
通讯作者Brown, Matthew A.
来源期刊NATURE GENETICS
ISSN1061-4036
EISSN1546-1718
出版年2010
卷号42期号:2页码:123-U47
英文摘要

To identify susceptibility loci for ankylosing spondylitis, we undertook a genome-wide association study in 2,053 unrelated ankylosing spondylitis cases among people of European descent and 5,140 ethnically matched controls, with replication in an independent cohort of 898 ankylosing spondylitis cases and 1,518 controls. Cases were genotyped with Illumina HumHap370 genotyping chips. In addition to strong association with the major histocompatibility complex (MHC; P < 10(-800)), we found association with SNPs in two gene deserts at 2p15 (rs10865331; combined P = 1.9 x 10(-19)) and 21q22 (rs2242944; P = 8.3 x 10(-20)), as well as in the genes ANTXR2 (rs4333130; P = 9.3 x 10(-8)) and IL1R2 (rs2310173; P = 4.8 x 10(-7)). We also replicated previously reported associations at IL23R (rs11209026; P = 9.1 x 10(-14)) and ERAP1 (rs27434; P = 5.3 x 10(-12)). This study reports four genetic loci associated with ankylosing spondylitis risk and identifies a major role for the interleukin (IL)-23 and IL-1 cytokine pathways in disease susceptibility.


类型Article
语种英语
国家USA ; England ; Canada ; Australia
收录类别SCI-E
WOS记录号WOS:000274084400007
WOS关键词INFLAMMATORY-BOWEL-DISEASE ; GENETIC-SUSCEPTIBILITY ; VARIANTS ; POPULATION ; PHENOTYPES ; RISK ; TNF
WOS类目Genetics & Heredity
WOS研究方向Genetics & Heredity
来源机构University of Oxford
资源类型期刊论文
条目标识符http://119.78.100.177/qdio/handle/2XILL650/165741
作者单位1.Univ Texas Hlth Sci Ctr Houston, Houston, TX USA;
2.Univ Bristol, Dept Social Med, MRC, Ctr Causal Anal Translat Epidemiol, Bristol, Avon, England;
3.Univ Oxford, Botnar Res Ctr, Nuffield Dept Orthopaed Rheumatol & Musculoskelet, Oxford, England;
4.Univ Calif San Francisco, San Francisco, CA 94143 USA;
5.Royal Natl Hosp Rheumat Dis, Natl Hlth Serv Fdn Trust, Bath BA1 1RL, Avon, England;
6.Univ Bath, Bath BA2 7AY, Avon, England;
7.Spondylitis Assoc Amer, Sherman Oaks, CA USA;
8.Wellcome Trust Sanger Inst, Cambridge, England;
9.Univ Alberta, Dept Med, Edmonton, AB, Canada;
10.Univ Toronto, Toronto, ON, Canada;
11.NIAMSD, NIH, Bethesda, MD 20892 USA;
12.Cedars Sinai Med Ctr, Dept Med Rheumatol, Los Angeles, CA 90048 USA;
13.Univ Queensland, Princess Alexandra Hosp, Diamantina Inst Canc Immunol & Metab Med, Brisbane, Qld, Australia
推荐引用方式
GB/T 7714
Reveille, John D.,Sims, Anne-Marie,Danoy, Patrick,et al. Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci[J]. University of Oxford,2010,42(2):123-U47.
APA Reveille, John D..,Sims, Anne-Marie.,Danoy, Patrick.,Evans, David M..,Leo, Paul.,...&Brown, Matthew A..(2010).Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.NATURE GENETICS,42(2),123-U47.
MLA Reveille, John D.,et al."Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci".NATURE GENETICS 42.2(2010):123-U47.
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