Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
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DOI：
10.1038/ng.2667
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发表时间：
2013-07
期刊：
影响因子：
30.8
通讯作者：
Brown, Matthew A.
中科院分区：
文献类型：
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作者：
Cortes, Adrian;Hadler, Johanna;Pointon, Jenny P.;Robinson, Philip C.;Karaderi, Tugce;Leo, Paul;Cremin, Katie;Pryce, Karena;Harris, Jessica;Lee, Seunghun;Joo, Kyung Bin;Shim, Seung-Cheol;Weisman, Michael;Ward, Michael;Zhou, Xiaodong;Garchon, Henri-Jean;Chiocchia, Gilles;Nossent, Johannes;Lie, Benedicte A.;Forre, Oystein;Tuomilehto, Jaakko;Laiho, Kari;Jiang, Lei;Liu, Yu;Wu, Xin;Bradbury, Linda A.;Elewaut, Dirk;Burgos-Vargas, Ruben;Stebbings, Simon;Appleton, Louise;Farrah, Claire;Lau, Jonathan;Kenna, Tony J.;Haroon, Nigil;Ferreira, Manuel A.;Yang, Jian;Mulero, Juan;Fernandez-Sueiro, Jose Luis;Gonzalez-Gay, Miguel A.;Lopez-Larrea, Carlos;Deloukas, Panos;Donnelly, Peter;Bowness, Paul;Gafney, Karl;Gaston, Hill;Gladman, Dafna D.;Rahman, Proton;Maksymowych, Walter P.;Xu, Huji;Crusius, J. Bart A.;van der Horst-Bruinsma, Irene E.;Chou, Chung-Tei;Valle-Onate, Raphael;Romero-Sanchez, Consuelo;Hansen, Inger Myrnes;Pimentel-Santos, Fernando M.;Inman, Robert D.;Videm, Vibeke;Martin, Javier;Breban, Maxime;Reveille, John D.;Evans, David M.;Kim, Tae-Hwan;Wordsworth, Bryan Paul;Brown, Matthew A.
强直性脊柱炎是一种常见的，高度遗传性的炎症性关节炎，主要影响脊柱和骨盆。除HLA-B*27等位基因外，先前已在欧洲血统人群中鉴定出12个与强直性脊柱炎相关的基因座，并在亚洲人中鉴定出2个相关基因座。在这项研究中，我们使用Illumina免疫芯片芯片进行了一项病例对照相关研究，涉及10，619名强直性脊柱炎患者（病例）和15，145名对照。我们确定了13个新的风险位点和12个额外的强直性脊柱炎相关的单倍型在11个位点。两个强直性脊柱炎相关的区域，现在已经确定编码四个氨基肽酶，参与肽加工前的主要组织相容性复合体（MHC）I类介绍。这些位点中的两个位点的保护性变体与氨肽酶功能降低和MHC I类细胞表面表达相关。
Ankylosing spondylitis is a common, highly heritable inflammatory arthritis affecting primarily the spine and pelvis. In addition to HLA-B*27 alleles, 12 loci have previously been identified that are associated with ankylosing spondylitis in populations of European ancestry, and 2 associated loci have been identified in Asians. In this study, we used the Illumina Immunochip microarray to perform a case-control association study involving 10,619 individuals with ankylosing spondylitis (cases) and 15,145 controls. We identified 13 new risk loci and 12 additional ankylosing spondylitis–associated haplotypes at 11 loci. Two ankylosing spondylitis–associated regions have now been identified encoding four aminopeptidases that are involved in peptide processing before major histocompatibility complex (MHC) class I presentation. Protective variants at two of these loci are associated both with reduced aminopeptidase function and with MHC class I cell surface expression.
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影响因子：
168.9
作者：
Ferreira, Manuel A. R.;Matheson, Melanie C.;Duffy, David L.;Marks, Guy B.;Hui, Jennie;Le Souef, Peter;Danoy, Patrick;Baltic, Svetlana;Nyholt, Dale R.;Jenkins, Mark;Hayden, Catherine;Willemsen, Gonneke;Ang, Wei;Kuokkanen, Mikko;Beilby, John;Cheah, Faang;de Geus, Eco J. C.;Ramasamy, Adaikalavan;Vedantam, Sailaja;Salomaa, Veikko;Madden, Pamela A.;Heath, Andrew C.;Hopper, John L.;Visscher, Peter M.;Musk, Bill;Leeder, Stephen R.;Jarvelin, Marjo-Riitta;Pennell, Craig;Boomsma, Dorret I.;Hirschhorn, Joel N.;Walters, Haydn;Martin, Nicholas G.;James, Alan;Jones, Graham;Abramson, Michael J.;Robertson, Colin F.;Dharmage, Shyamali C.;Brown, Matthew A.;Montgomery, Grant W.;Thompson, Philip J.
通讯作者：
Thompson, Philip J.
影响因子：
64.8
作者：
Gregory, Adam P.;Dendrou, Calliope A.;Attfield, Kathrine E.;Haghikia, Aiden;Xifara, Dionysia K.;Butter, Falk;Poschmann, Gereon;Kaur, Gurman;Lambert, Lydia;Leach, Oliver A.;Proemel, Simone;Punwani, Divya;Felce, James H.;Davis, Simon J.;Gold, Ralf;Nielsen, Finn C.;Siegel, Richard M.;Mann, Matthias;Bell, John I.;McVean, Gil;Fugger, Lars
通讯作者：
Fugger, Lars
DOI：
10.1038/ejhg.2009.41
发表时间：
2009-10
期刊：
European journal of human genetics : EJHG
影响因子：
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作者：
通讯作者：
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影响因子：
64.8
作者：
Bettelli, E;Carrier, YJ;Kuchroo, VK
通讯作者：
Kuchroo, VK
影响因子：
30.8
作者：
通讯作者：
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