TNFSF10基因单体型与支气管哮喘相关
2010/12/17
摘要
哮喘患者气道中的肿瘤坏死因子相关凋亡诱导配体(TRAIL)表达增加，而且与过敏性气道疾病相关（通过促进STAT6依赖的Th2细胞效应子功能）。为了解TNFSF10基因的单核苷酸多态性（SNPs）是否与支气管哮喘相关，我们对498名居住在德国南部的高加索人，采用限制性片段长度多态性分析，检测TNFSF10的SNPs。与单个SNPs不同，来自于8个SNPs的单体型与哮喘相关（p = 0.00012）。小型基因单体型方法可获得4个等位基因，组成2个（rs3136586/ rs3136598）、3个（rs12488654/rs3136586/rs3136598和rs3136586/rs3136598/rs3136604）和4个（rs12488654/ rs3136586/ rs3136598/ rs3136604）的SNPs，这些SNPs与哮喘显著相关（分别为P= 0.00005, P= 0.00008, P= 0.00017和P=0.00038）。TNFSF10等位基因联合SNPs，也与哮喘有关，说明TRAIL在哮喘标志性特征的发展中具有重要作用。
（苏楠 审校）
Pediatr Allergy Immunol. 2010 Oct 20. doi: 10.1111/j.1399-3038.2010.01027.x.
Haplotypes covering the TNFSF10 gene are associated with bronchial asthma.
Weckmann M, Kopp MV, Heinzmann A, Mattes J.
Centre for Paediatrics an Adolescent Medicine, University of Freiburg, Freiburg, Germany Immunology&Respiratory Research Group, Discipline of Immunology and Microbiology, School of Biomedical Science, University of Newcastle Paediatric Respiratory and Sleep Medicine, John Hunter Children’s Hospital, Newcastle, Australia.
Abstract
Tumour necrosis factor-related apoptosis-inducing ligand (TRAIL) is elevated in the airways of subjects with asthma and has been linked to the development of allergic airway disease by promoting STAT6-dependent T helper 2 cell (T(H) 2) effector functions. To determine whether single nucleotide polymorphisms (SNPs) in the TNFSF10 gene are associated with bronchial asthma we genotyped 498 Caucasian subjects living in Southern Germany for eight SNPs in the TNFSF10 by restriction fragment length polymorphism analysis. In contrast to single SNPs, haplotypes constructed from eight SNPs were robustly associated with asthma (p = 0.00012). A small haplotype approach returned four alleles consisting of two (rs3136586/ rs3136598), three (rs12488654/rs3136586/rs3136598 and rs3136586/rs3136598/rs3136604), and four SNPs (rs12488654/ rs3136586/ rs3136598/ rs3136604) that were highly associated with asthma (p = 0.00005, p = 0.00008, p = 0.00017 and p = 0.00038). Combinations of SNPs in the TNFSF10 allele were strongly associated with asthma supporting the concept that TRAIL is important in the development of hallmark features of this disease.
PediatrAllergyImmunol.2010Oct20.doi:10.1111/j.1399-3038.2010.01027.x.
哮喘患者气道中的肿瘤坏死因子相关凋亡诱导配体(TRAIL)表达增加，而且与过敏性气道疾病相关（通过促进STAT6依赖的Th2细胞效应子功能）。为了解TNFSF10基因的单核苷酸多态性（SNPs）是否与支气管哮喘相关，我们对498名居住在德国南部的高加索人，采用限制性片段长度多态性分析，检测TNFSF10的SNPs。与单个SNPs不同，来自于8个SNPs的单体型与哮喘相关（p = 0.00012）。小型基因单体型方法可获得4个等位基因，组成2个（rs3136586/ rs3136598）、3个（rs12488654/rs3136586/rs3136598和rs3136586/rs3136598/rs3136604）和4个（rs12488654/ rs3136586/ rs3136598/ rs3136604）的SNPs，这些SNPs与哮喘显著相关（分别为P= 0.00005, P= 0.00008, P= 0.00017和P=0.00038）。TNFSF10等位基因联合SNPs，也与哮喘有关，说明TRAIL在哮喘标志性特征的发展中具有重要作用。
（苏楠 审校）
Pediatr Allergy Immunol. 2010 Oct 20. doi: 10.1111/j.1399-3038.2010.01027.x.
Haplotypes covering the TNFSF10 gene are associated with bronchial asthma.
Weckmann M, Kopp MV, Heinzmann A, Mattes J.
Centre for Paediatrics an Adolescent Medicine, University of Freiburg, Freiburg, Germany Immunology&Respiratory Research Group, Discipline of Immunology and Microbiology, School of Biomedical Science, University of Newcastle Paediatric Respiratory and Sleep Medicine, John Hunter Children’s Hospital, Newcastle, Australia.
Abstract
Tumour necrosis factor-related apoptosis-inducing ligand (TRAIL) is elevated in the airways of subjects with asthma and has been linked to the development of allergic airway disease by promoting STAT6-dependent T helper 2 cell (T(H) 2) effector functions. To determine whether single nucleotide polymorphisms (SNPs) in the TNFSF10 gene are associated with bronchial asthma we genotyped 498 Caucasian subjects living in Southern Germany for eight SNPs in the TNFSF10 by restriction fragment length polymorphism analysis. In contrast to single SNPs, haplotypes constructed from eight SNPs were robustly associated with asthma (p = 0.00012). A small haplotype approach returned four alleles consisting of two (rs3136586/ rs3136598), three (rs12488654/rs3136586/rs3136598 and rs3136586/rs3136598/rs3136604), and four SNPs (rs12488654/ rs3136586/ rs3136598/ rs3136604) that were highly associated with asthma (p = 0.00005, p = 0.00008, p = 0.00017 and p = 0.00038). Combinations of SNPs in the TNFSF10 allele were strongly associated with asthma supporting the concept that TRAIL is important in the development of hallmark features of this disease.
PediatrAllergyImmunol.2010Oct20.doi:10.1111/j.1399-3038.2010.01027.x.
上一篇：
纬度、紫外线暴露和维生素D在儿童哮喘和枯草热中的作用：一项澳大利亚的多中心研究
下一篇：
成人中重度哮喘患者支气管对组胺的反应性与气道重构有关
