A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
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DOI：
10.1038/ng.468
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发表时间：
2009-11
期刊：
影响因子：
30.8
通讯作者：
Graham, Robert R.
中科院分区：
文献类型：
--
作者：
Gateva, Vesela;Sandling, Johanna K.;Hom, Geoff;Taylor, Kimberly E.;Chung, Sharon A.;Sun, Xin;Ortmann, Ward;Kosoy, Roman;Ferreira, Ricardo C.;Nordmark, Gunnel;Gunnarsson, Iva;Svenungsson, Elisabet;Padyukov, Leonid;Sturfelt, Gunnar;Jonsen, Andreas;Bengtsson, Anders A.;Rantapaa-Dahlqvist, Solbritt;Baechler, Emily C.;Brown, Elizabeth E.;Alarcon, Graciela S.;Edberg, Jeffrey C.;Ramsey-Goldman, Rosalind;McGwin, Gerald, Jr.;Reveille, John D.;Vila, Luis M.;Kimberly, Robert P.;Manzi, Susan;Petri, Michelle A.;Lee, Annette;Gregersen, Peter K.;Seldin, Michael F.;Ronnblom, Lars;Criswell, Lindsey A.;Syvanen, Ann-Christine;Behrens, Timothy W.;Graham, Robert R.
全基因组关联研究最近确定了至少15个系统性红斑狼疮（SLE）的易感基因座。为了确认额外的风险位点，我们在全基因组研究中从2,466个显示与SLE相关的名义证据（P < 0.05）的区域中选择SNP，并在1,963例病例和4,329例对照的独立样本中进行基因分型。这项重复研究确定了5个新的SLE易感基因座（P < 5 × 10−8）：TNIP 1（OR = 1.27）、PRDM 1（OR = 1.20）、JAZF 1（OR = 1.20）、UHRF 1BP 1（OR = 1.17）和IL 10（OR = 1.19）。我们确定了另外21个P ≤ 1 × 10−5的候选基因座。对先前与其他自身免疫性疾病相关的等位基因进行的候选筛选表明，有5个基因座（P < 1 × 10−3）可能与SLE相关：IFIH 1、CFB、CLEC 16 A、IL 12 B和SH 2B 3。这些结果扩大了SLE易感基因位点的数量，并暗示了SLE发病机制中的几个关键免疫途径。
Genome-wide association studies have recently identified at least 15 susceptibility loci for systemic lupus erythematosus (SLE). To confirm additional risk loci, we selected SNPs from 2,466 regions that showed nominal evidence of association to SLE (P < 0.05) in a genome-wide study and genotyped them in an independent sample of 1,963 cases and 4,329 controls. This replication effort identified five new SLE susceptibility loci (P < 5 × 10−8): TNIP1 (odds ratio (OR) = 1.27), PRDM1 (OR = 1.20), JAZF1 (OR = 1.20), UHRF1BP1 (OR = 1.17) and IL10 (OR = 1.19). We identified 21 additional candidate loci with P ≤ 1 × 10−5. A candidate screen of alleles previously associated with other autoimmune diseases suggested five loci (P < 1 × 10−3) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3. These results expand the number of confirmed and candidate SLE susceptibility loci and implicate several key immunologic pathways in SLE pathogenesis.
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影响因子：
30.8
作者：
Marchini, Jonathan;Howie, Bryan;Donnelly, Peter
通讯作者：
Donnelly, Peter
影响因子：
30.8
作者：
Nair RP;Duffin KC;Helms C;Ding J;Stuart PE;Goldgar D;Gudjonsson JE;Li Y;Tejasvi T;Feng BJ;Ruether A;Schreiber S;Weichenthal M;Gladman D;Rahman P;Schrodi SJ;Prahalad S;Guthery SL;Fischer J;Liao W;Kwok PY;Menter A;Lathrop GM;Wise CA;Begovich AB;Voorhees JJ;Elder JT;Krueger GG;Bowcock AM;Abecasis GR;Collaborative Association Study of Psoriasis
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Collaborative Association Study of Psoriasis
影响因子：
30.8
作者：
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通讯作者：
Rich, Stephen S.
影响因子：
3.9
作者：
Kosoy, Roman;Nassir, Rami;Tian, Chao;White, Phoebe A.;Butler, Lesley M.;Silva, Gabriel;Kittles, Rick;Alarcon-Riquelme, Marta E.;Gregersen, Peter K.;Belmont, John W.;De La Vega, Francisco M.;Seldin, Michael F.
通讯作者：
Seldin, Michael F.
影响因子：
30.8
作者：
Fisher, Sheila A.;Tremelling, Mark;Anderson, Carl A.;Gwilliam, Rhian;Bumpstead, Suzannah;Prescott, Natalie J.;Nimmo, Elaine R.;Massey, Dunecan;Berzuini, Carlo;Johnson, Christopher;Barrett, Jeffrey C.;Cummings, Fraser R.;Drummond, Hazel;Lees, Charlie W.;Onnie, Clive M.;Hanson, Catherine E.;Blaszczyk, Katarzyna;Inouye, Mike;Ewels, Philip;Ravindrarajah, Radhi;Keniry, Andrew;Hunt, Sarah;Carter, Martyn;Watkins, Nick;Ouwehand, Willem;Lewis, Cathryn M.;Cardon, Lon;Lobo, Alan;Forbes, Alastair;Sanderson, Jeremy;Jewell, Derek P.;Mansfield, John C.;Deloukas, Panos;Mathew, Christopher G.;Parkes, Miles;Satsangi, Jack
通讯作者：
Satsangi, Jack