5q22 常见变异与儿童嗜酸性食管炎相关。
Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
机构信息
Division of Allergy and Immunology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
出版信息
Nat Genet. 2010 Apr;42(4):289-91. doi: 10.1038/ng.547. Epub 2010 Mar 7.
Abstract
Eosinophilic esophagitis (EoE) is an allergic disorder characterized by the accumulation of eosinophils in the esophagus. We report association of EoE with variants at chromosome 5q22 encompassing TSLP and WDR36 (rs3806932, combined P = 3.19 x 10(-9)). TSLP is overexpressed in esophageal biopsies from individuals with EoE compared with unaffected individuals, whereas WDR36 expression is unaltered between the two groups. These data implicate the 5q22 locus in the pathogenesis of EoE and identify TSLP as the most likely candidate gene in the region.
摘要
嗜酸性粒细胞性食管炎 (EoE) 是一种过敏疾病，其特征是食管中嗜酸性粒细胞的积聚。我们报告了 EoE 与染色体 5q22 上包含 TSLP 和 WDR36 的变异之间的关联(rs3806932，联合 P = 3.19 x 10(-9))。与未受影响的个体相比，患有 EoE 的个体的食管活检中 TSLP 过度表达，而两组之间 WDR36 的表达没有改变。这些数据表明 5q22 位点在 EoE 的发病机制中起作用，并确定 TSLP 为该区域最可能的候选基因。
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Am J Physiol Gastrointest Liver Physiol. 2009 Sep;297(3):G550-8. doi: 10.1152/ajpgi.00148.2009. Epub 2009 Jul 1.
2
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Adv Immunol. 2009;102:135-226. doi: 10.1016/S0065-2776(09)01203-6.
3
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