Genetic variants in interferon regulatory factor 2 (IRF2) are associated with atopic dermatitis and eczema herpeticum.
Genetic variants in interferon regulatory factor 2 (IRF2) are associated with atopic dermatitis and eczema herpeticum.
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DOI：
10.1038/jid.2011.374
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发表时间：
2012-03
影响因子：
6.5
通讯作者：
Barnes, Kathleen C.
中科院分区：
文献类型：
--
作者：
Gao, Pei-Song;Leung, Donald Y. M.;Rafaels, Nicholas M.;Boguniewicz, Mark;Hand, Tracey;Gao, Li;Hata, Tissa R.;Schneider, Lynda C.;Hanifin, Jon M.;Beaty, Terri H.;Beck, Lisa A.;Weinberg, Adriana;Barnes, Kathleen C.
干扰素调节因子2（Interferon Regulatory Factor 2，IRF 2）是一个转录因子家族的成员，参与干扰素诱导的对病毒感染的免疫应答的调节。为了测试IRF 2的遗传变异是否可以预测AD和ADEH的风险，我们对欧洲裔美国人（n=435）和非裔美国人（n = 339）人群中的78个IRF 2标记单核苷酸多态性（SNP）进行了基因分型。在欧洲裔美国人中观察到AD与两个SNP（rs793814，P = 0.007，比值比（OR）= 0.52; rs3756094，P = 0.037，OR = 0.66）之间的显著关联，在非洲裔美国人中观察到AD与一个SNP（rs3775572，P = 0.016，OR = 0.46）之间的显著关联。在欧洲裔美国人中也观察到ADEH和五个SNP之间的显著关联（P = 0.049-0.022）。单倍型分析进一步加强了与ADEH的关联，其中5-SNP（CAGGA）单倍型显示出与ADEH的最强关联（P = 0.0008）。8个IRF 2 SNP与单纯疱疹病毒（HSV）刺激后IFNγ的产生显著相关（P = 0.048-0.0008），包括AD相关SNP（rs 13139310，P = 0.008）。我们的研究结果表明，IRF 2中的不同标记物可能与AD和ADEH相关，这可能取决于种族血统，IRF 2中的遗传变异可能导致对HSV的异常免疫反应。
Interferon regulatory factor 2 (IRF2) is a member of a family of transcriptional factors involved in the modulation of interferon induced immune responses to viral infection. To test whether genetic variants in IRF2 predict risk of AD and ADEH, we genotyped 78 IRF2 tagging single nucleotide polymorphisms (SNPs) in both European American (n=435) and African American (n = 339) populations. Significant associations were observed between AD and two SNPs (rs793814, P = 0.007, odds ratio (OR) = 0.52; rs3756094, P = 0.037, OR = 0.66) among European Americans and one SNP (rs3775572, P = 0.016, OR = 0.46) among African Americans. Significant associations were also observed between ADEH and five SNPs (P = 0.049-0.022) among European Americans. The association with ADEH was further strengthened by haplotype analyses, wherein a 5-SNP (CAGGA) haplotype showed the strongest association with ADEH (P = 0.0008). Eight IRF2 SNPs were significantly associated with IFNγ production post-herpes simplex virus (HSV) stimulation (P = 0.048-0.0008), including an AD-associated SNP (rs13139310, P = 0.008). Our findings suggest distinct markers in IRF2 may be associated with AD and ADEH, which may depend upon ethnic ancestry, and genetic variants in IRF2 may contribute to an abnormal immune response to HSV.
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