Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.

Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.
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DOI:
10.1038/ng.513
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发表时间:
2010-02
期刊:
影响因子:
30.8
通讯作者:
--
中科院分区:
生物学1区
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--
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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 × 10−19) and 21q22 (rs2242944; P = 8.3 × 10−20), as well as in the genes ANTXR2 (rs4333130; P = 9.3 × 10−8) and IL1R2 (rs2310173; P = 4.8 × 10−7). We also replicated previously reported associations at IL23R (rs11209026; P = 9.1 × 10−14) and ERAP1 (rs27434; P = 5.3 × 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.
Osterix周围地区的常见变体与骨矿物质密度和儿童期生长有关。
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发表时间: 2009-04-15
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Timpson NJ;Tobias JH;Richards JB;Soranzo N;Duncan EL;Sims AM;Whittaker P;Kumanduri V;Zhai G;Glaser B;Eisman J;Jones G;Nicholson G;Prince R;Seeman E;Spector TD;Brown MA;Peltonen L;Smith GD;Deloukas P;Evans DM
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影响因子: 9.8
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