A genome-wide association study of total serum and mite-specific IgEs in asthma patients.
A genome-wide association study of total serum and mite-specific IgEs in asthma patients.
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DOI：
10.1371/journal.pone.0071958
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Shin HD
中科院分区：
文献类型：
--
作者：
Kim JH;Cheong HS;Park JS;Jang AS;Uh ST;Kim YH;Kim MK;Choi IS;Cho SH;Choi BW;Bae JS;Park CS;Shin HD
免疫球蛋白E （IgE）是哮喘和过敏性疾病的核心参与者之一。虽然哮喘患者的血清IgE水平（一种有用的内表型）普遍升高，但影响哮喘中IgE调节的遗传因素仍不完全清楚。为了确定哮喘患者血清总IgEs和螨特异性IgEs的遗传变异，对877名韩国哮喘患者进行了657,366个单核苷酸多态性（SNPs）的全基因组关联研究（GWAS）。本研究发现了几个可能与哮喘患者总IgE相关的新基因，如CRIM1 （rs848512, P = 1.18×10−6;rs711254, P = 6.73×10−6）、ZNF71 （rs10404342, P = 7.60×10−6）、TLN1 （rs4879926, P = 7.74×10−6）和SYNPO2 （rs1472066, P = 8.36×10−6;rs1038770, P = 8.66×10−6）。关于特异性IgE与室内尘螨的关系，我们观察到OPRK1和LOC730217附近的基因间snp可能分别与哮喘患者的pteronyssinus （D.p.）和Dermatophagoides farinae （D.f.）有关。在进一步的通路分析中，估计磷脂酰肌醇信号系统和粘附体连接通路在哮喘总IgE水平的调节中发挥作用。虽然还需要在其他人群中对这些结果进行功能评估和复制，但哮喘患者血清IgE的GWAS可以促进对新发现的遗传变异在哮喘及其相关表型中的作用的更好理解。
Immunoglobulin E (IgE) is one of the central players in asthma and allergic diseases. Although the serum IgE level, a useful endophenotype, is generally increased in patients with asthma, genetic factors influencing IgE regulation in asthma are still not fully understood. To identify the genetic variations associated with total serum and mite-specific IgEs in asthmatics, a genome-wide association study (GWAS) of 657,366 single nucleotide polymorphisms (SNPs) was performed in 877 Korean asthmatics. This study found that several new genes might be associated with total IgE in asthmatics, such as CRIM1 (rs848512, P = 1.18×10−6; rs711254, P = 6.73×10−6), ZNF71 (rs10404342, P = 7.60×10−6), TLN1 (rs4879926, P = 7.74×10−6), and SYNPO2 (rs1472066, P = 8.36×10−6; rs1038770, P = 8.66×10−6). Regarding the association of specific IgE to house dust mites, it was observed that intergenic SNPs nearby to OPRK1 and LOC730217 might be associated with Dermatophagoides pteronyssinus (D.p.) and Dermatophagoides farinae (D.f.) in asthmatics, respectively. In further pathway analysis, the phosphatidylinositol signaling system and adherens junction pathways were estimated to play a role in the regulation of total IgE levels in asthma. Although functional evaluations and replications of these results in other populations are needed, this GWAS of serum IgE in asthmatics could facilitate improved understanding of the role of the newly identified genetic variants in asthma and its related phenotypes.
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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
DOI：
10.4168/aair.2011.3.4.236
发表时间：
2011-10
期刊：
Allergy, asthma & immunology research
影响因子：
--
作者：
Lee SH;Park JS;Park CS
通讯作者：
Park CS
影响因子：
14.9
作者：
Desmet FO;Hamroun D;Lalande M;Collod-Béroud G;Claustres M;Béroud C
通讯作者：
Béroud C
影响因子：
4.4
作者：
Doi, Tomomitsu;Obayashi, Kunie;Koyasu, Shigeo
通讯作者：
Koyasu, Shigeo
影响因子：
3.3
作者：
Kelly LA;Erwin EA;Platts-Mills TA
通讯作者：
Platts-Mills TA