Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.
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DOI：
10.1038/ng.2007.17
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发表时间：
2007-11
期刊：
影响因子：
30.8
通讯作者：
Brown, Matthew A.
中科院分区：
文献类型：
--
作者：
Newport, Melanie;Sirugo, Giorgio;Lyons, Emily;Vannberg, Fredrik;Hill, Adrian V. S.;Bradbury, Linda A.;Farrar, Claire;Pointon, Jennifer J.;Wordsworth, Paul;Brown, Matthew A.;Franklyn, Jayne A.;Heward, Joanne M.;Simmonds, Matthew J.;Gough, Stephen C. L.;Seal, Sheila;Stratton, Michael R.;Rahman, Nazneen;Ban, Maria;Goris, An;Sawcer, Stephen J.;Compston, Alastair;Conway, David;Jallow, Muminatou;Newport, Melanie;Sirugo, Giorgio;Rockett, Kirk A.;Kwiatkowski, Dominic P.;Bumpstead, Suzannah J.;Chaney, Amy;Downes, Kate;Ghori, Mohammed J. R.;Gwilliam, Rhian;Hunt, Sarah E.;Inouye, Michael;Keniry, Andrew;King, Emma;McGinnis, Ralph;Potter, Simon;Ravindrarajah, Rathi;Whittaker, Pamela;Widden, Claire;Withers, David;Deloukas, Panos;Leung, Hin-Tak;Nutland, Sarah;Stevens, Helen E.;Walker, Neil M.;Todd, John A.;Easton, Doug;Clayton, David G.;Burton, Paul R.;Tobin, Martin D.;Barrett, Jeffrey C.;Evans, David M.;Morris, Andrew P.;Cardon, Lon R.;Cardin, Niall J.;Davison, Dan;Ferreira, Teresa;Pereira-Gale, Joanne;Hallgrimsdottir, Ingeleif B.;Howie, Bryan N.;Marchini, Jonathan L.;Spencer, Chris C. A.;Su, Zhan;Teo, Yik Ying;Vukcevic, Damjan;Donnelly, Peter;Bentley, David;Brown, Matthew A.;Cardon, Lon R.;Caulfield, Mark;Clayton, David G.;Compston, Alastair;Craddock, Nick;Deloukas, Panos;Donnelly, Peter;Farrall, Martin;Barton, Anne;Bruce, Ian N.;Donovan, Hannah;Eyre, Steve;Gilbert, Paul D.;Hilder, Samantha L.;Hinks, Anne M.;John, Sally L.;Potter, Catherine;Silman, Alan J.;Symmons, Deborah P. M.;Thomson, Wendy;Worthington, Jane;Gough, Stephen C. L.;Hall, Alistair S.;Hattersley, Andrew T.;Hill, Adrian V. S.;Kwiatkowski, Dominic P.;Matthew, Christopher G.;McCarthy, Mark I.;Ouwehand, Willem H.;Parkes, Miles;Pembrey, Marcus;Rahman, Nazneen;Samani, Nilesh J.;Stratton, Michael R.;Todd, John A.;Worthington, Jane;Mitchell, Sarah L.;Newby, Paul R.;Brand, Oliver J.;Carr-Smith, Jackie;Pearce, Simon H. S.;Gough, Stephen C. L.;McGinnis, R.;Keniry, A.;Deloukas, P.;Reveille, John D.;Zhou, Xiaodong;Bradbury, Linda A.;Sims, Anne-Marie;Dowling, Alison;Taylor, Jacqueline;Doan, Tracy;Cardon, Lon R.;Davis, John C.;Pointon, Jennifer J.;Savage, Laurie;Ward, Michael M.;Learch, Thomas L.;Weisman, Michael H.;Wordsworth, Paul;Brown, Matthew A.
我们对1000例强直性脊柱炎（AS）、自身免疫性甲状腺疾病（AITD）、多发性硬化症和乳腺癌的独立病例进行了14,436个nsSNP和897个MHC tagSNP的基因分型。比较这些疾病对一个共同的对照组1500个健康的英国人，我们报告的初始关联和独立复制的两个新的基因座AS，ARTS 1和IL 23 R，并确认先前报道的AITD与TSHR和FCRL 3的关联。这些研究结果，部分通过扩大对照参考组与其他疾病组的个人，以增加统计能力，突出了重要的新的可能性，自身免疫调节，并表明，IL 23 R可能是一个常见的易感因素，为主要的“血清阴性”疾病。
We have genotyped 14,436 nsSNPs and 897 MHC tagSNPs in 1000 independent cases of Ankylosing Spondylitis (AS), Autoimmune Thyroid Disease (AITD), Multiple Sclerosis and Breast Cancer. Comparing each of these diseases against a common control set of 1500 unselected healthy British individuals, we report initial association and independent replication of two new loci for AS, ARTS1 and IL23R, and confirmation of the previously reported AITD association with TSHR and FCRL3. These findings, enabled in part by expanding the control reference group with individuals from the other disease groups to increase statistical power, highlight important new possibilities for autoimmune regulation and suggest that IL23R may be a common susceptibility factor for the major ‘seronegative’ diseases.
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影响因子：
4.5
作者：
Libioulle C;Louis E;Hansoul S;Sandor C;Farnir F;Franchimont D;Vermeire S;Dewit O;de Vos M;Dixon A;Demarche B;Gut I;Heath S;Foglio M;Liang L;Laukens D;Mni M;Zelenika D;Van Gossum A;Rutgeerts P;Belaiche J;Lathrop M;Georges M
通讯作者：
Georges M
影响因子：
6.5
作者：
Capon, F;Semprini, S;Novelli, G
通讯作者：
Novelli, G
影响因子：
5.2
作者：
Dechairo, BM;Zabaneh, D;Gough, SC
通讯作者：
Gough, SC
影响因子：
5.8
作者：
Hiratani, H;Bowden, DW;Akamizu, T
通讯作者：
Akamizu, T
影响因子：
30.8
作者：
Hampe, Jochen;Franke, Andre;Schreiber, Stefan
通讯作者：
Schreiber, Stefan