GWAS identifies four novel eosinophilic esophagitis loci.
GWAS identifies four novel eosinophilic esophagitis loci.
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DOI：
10.1038/ncomms6593
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发表时间：
2014-11-19
影响因子：
16.6
通讯作者：
Hakonarson, Hakon
中科院分区：
文献类型：
--
作者：
Sleiman, Patrick M. A.;Wang, Mei-Lun;Cianferoni, Antonella;Aceves, Seema;Gonsalves, Nirmala;Nadeau, Kari;Bredenoord, Albert J.;Furuta, Glenn T.;Spergel, Jonathan M.;Hakonarson, Hakon
嗜酸性食管炎(EoE)是一种以嗜酸性粒细胞渗入食道为特征的过敏性疾病。我们以前报道过TSLP/WDR36基因座与EoE的关联。在这里，我们报告了另外四个基因座在全基因组范围内的显著关联：c11orf30和STAT6，它们以前与特应性和自身免疫性疾病相关，以及两个EoE特异性基因座，ANKRD27和CAPN14，ANKRD27调节黑素生成酶到表皮黑素细胞的运输，CAPN14编码在食道中高度丰富的钙蛋白。五个EoE基因座的识别，不仅扩大了我们对疾病的病因学理解，而且可能代表着治疗EoE最衰弱的方面--食管炎和重塑--的新的治疗靶点。
Eosinophilic esophagitis (EoE) is an allergic disorder characterized by infiltration of the esophagus with eosinophils. We had previously reported association of the TSLP/WDR36 locus with EoE. Here we report genome-wide significant associations at four additional loci; c11orf30 and STAT6, which have been previously associated with both atopic and autoimmune disease, and two EoE-specific loci, ANKRD27 that regulates the trafficking of melanogenic enzymes to epidermal melanocytes and CAPN14, that encodes a calpain whose expression is highly enriched in the esophagus. The identification of five EoE loci, not only expands our etiological understanding of the disease but may also represent new therapeutic targets to treat the most debilitating aspect of EoE, esophageal inflammation and remodeling.
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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.
DOI：
10.1016/j.jaci.2011.09.029
发表时间：
2012-03
期刊：
The Journal of allergy and clinical immunology
影响因子：
--
作者：
Granada M;Wilk JB;Tuzova M;Strachan DP;Weidinger S;Albrecht E;Gieger C;Heinrich J;Himes BE;Hunninghake GM;Celedón JC;Weiss ST;Cruikshank WW;Farrer LA;Center DM;O'Connor GT
通讯作者：
O'Connor GT
影响因子：
30.8
作者：
通讯作者：
--
使用系统发育，进化和表达分析的确定性经典钙蛋白酶家族的表征。
影响因子：
5.8
作者：
Macqueen DJ;Wilcox AH
通讯作者：
Wilcox AH
影响因子：
16.8
作者：
Schaefer, Ingmar B.;Hesketh, Geoffrey G.;Bright, Nicholas A.;Gray, Sally R.;Pryor, Paul R.;Evans, Philip R.;Luzio, J. Paul;Owen, David J.
通讯作者：
Owen, David J.