Polymorphisms within the CTLA4 gene are associated with infant atopic dermatitis
Polymorphisms within the CTLA4 gene are associated with infant atopic dermatitis
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DOI：
10.1111/j.1365-2133.2005.07080.x
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发表时间：
2006-03-01
影响因子：
10.3
通讯作者：
Stewart, G
中科院分区：
文献类型：
--
作者：
Jones, G;Wu, S;Stewart, G
背景特应性皮炎（AD）是儿童期最常见的疾病之一。它可以对受影响个人的身心健康产生重大影响。虽然环境触发因素很重要，但AD也有很强的遗传成分。识别与AD相关的基因可能有助于更好地了解这种疾病的基础及其与其他过敏性疾病，如asthma.Objectives的抑制性CTLA 4受体，一个重要的调节T细胞的基因编码的多态性与哮喘以及自身免疫性疾病。我们现在已经测试了CTLA 4基因的多态性是否也与儿童早期AD。方法从澳大利亚西悉尼招募了112名儿童及其父母的家庭队列。所有儿童均由儿科皮肤科医生就诊，并在生命的前3年内出现AD。结果CTLA 4基因第1外显子和3'端非翻译区+49（A）和CT60（B）多态性与个体和单倍型的相关性显著（P = 0.037，OR 1.59，P <0.01），与CTLA 4基因第1外显子和3'端非翻译区+49（A）和CT60（B）多态性显著相关（P <0.05）。95%置信区间（CI）1-2.55]和CT 60（A）等位基因的临界显著性（P = 0.055，OR 1.51，95% CI 1-2.38）。结论CTLA 4基因多态性与早发性婴儿AD的发病有关。这与哮喘队列的发现一致，表明+49（A）/CT60（A）单倍型是哮喘和AD共同的遗传风险因素。
Background Atopic dermatitis (AD) is one of the most common childhood disorders. It can have a significant impact on the physical and psychological well-being of affected individuals. Although environmental triggers are important, AD also has a strong genetic component. Identifying genes associated with AD may help to understand better the basis of this disorder and its relationship with other allergic disorders such as asthma.Objectives Polymorphisms in the gene encoding the inhibitory CTLA4 receptor, an important regulator of T cells, are associated with asthma as well as autoimmune disorders. We have now tested whether polymorphisms in the CTLA4 gene are also associated with early childhood AD.Methods A family-based cohort of 112 children and their parents was recruited from Western Sydney, Australia. All children were seen by a paediatric dermatologist and presented with AD within the first 3 years of life. Using the transmission disequilibrium test, individual and haplotypic associations with the +49 and CT60 polymorphisms in exon 1 and the 3' nontranslated DNA of the CTLA4 gene were tested.Results Single tests of association revealed significant association of the +49(A) [P = 0.037, odds ratio (OR) 1.59, 95% confidence interval (CI) 1-2.55] and borderline significance of the CT60(A) alleles (P = 0.055, OR 1.51, 95% CI 1-2.38). Significant association of the +49(A)/CT60(A) haplotype was detected (P = 0.002, OR 1.78, 95% CI 1.2-2.65).Conclusions Polymorphisms within the gene encoding CTLA4 were associated with early onset infant AD. This is in agreement with findings from asthmatic cohorts, suggesting that the +49(A)/CT60(A) haplotype is a genetic risk factor common to asthma and AD.