Kim Jeong Hyun, Lee So Yeon, Kang Mi Jin, Yoon Jisun, Jung Sungsu, Cho Hyun Ju, Kim Hyo Bin, Hong Soo Jong
Department of Medicine, University of Ulsan Collage of Medicine, Seoul, Korea.
Department of Pediatrics, Childhood Asthma Atopy Center, Environmental Health Center, Asan Medical Center, University of Ulsan Collage of Medicine, Seoul, Korea.
Allergy Asthma Immunol Res. 2018 Jul;10(4):397-405. doi: 10.4168/aair.2018.10.4.397.
Atopic dermatitis (AD) is a common and chronic inflammatory skin disease affecting up to 20% of children and 3% of adults worldwide. Although previous reports including genome-wide association study (GWAS) approaches have identified several risk factors that appear to be associated with AD development, replication studies are lacking. In our current study, we replicated the associations between candidate susceptibility loci and AD.
A total of 885 Korean subjects (425 AD patients and 460 unaffected controls) were genotyped for 17 single nucleotide polymorphisms (SNPs) from previous GWASs and meta-analyses of AD and from immune-related genes.
Several SNPs showed significant associations with AD in the case-control analysis (minimum P=0.005 at rs17389644), suggesting that these polymorphisms may be related to this disease. In addition, several SNPs showed significant signals (minimum P=0.004 at rs6473227) in severe AD compared to unaffected controls. In additional linear regression analysis, a few genotypes appeared to have potential effects on the SCORing AD (SCORAD) values (minimum P=0.003 at rs13361382 on TMEM232) and immunoglobulin E (IgE) levels (minimum P<0.0001 at rs4713555 near HLA-DRB1 and HLA-DQA1) in AD patients.
Our replication and extended study provide additional supporting information on the genetic associations (especially, variants in TMEM232 and nearby to IL21 and HLA-DRB1/HLA-DQA1) related to AD, its clinical severity and IgE involvement.
特应性皮炎（AD）是一种常见的慢性炎症性皮肤病，全球高达20%的儿童和3%的成年人受其影响。尽管此前包括全基因组关联研究（GWAS）方法在内的报告已确定了一些似乎与AD发病相关的风险因素，但缺乏重复研究。在我们当前的研究中，我们重复验证了候选易感基因座与AD之间的关联。
对885名韩国受试者（425例AD患者和460名未受影响的对照）进行基因分型，检测先前AD的GWAS及荟萃分析以及免疫相关基因中的17个单核苷酸多态性（SNP）。
在病例对照分析中，几个SNP与AD存在显著关联（rs17389644处最小P = 0.005），表明这些多态性可能与该疾病相关。此外，与未受影响的对照相比，几个SNP在重度AD中显示出显著信号（rs6473227处最小P = 0.004）。在额外的线性回归分析中，一些基因型似乎对AD患者的特应性皮炎评分（SCORAD）值（TMEM232基因上的rs13361382处最小P = 0.003）和免疫球蛋白E（IgE）水平（HLA - DRB1和HLA - DQA1附近的rs4713555处最小P<0.0001）有潜在影响。
我们的重复及扩展研究为与AD、其临床严重程度及IgE参与相关的遗传关联（特别是TMEM232以及IL21和HLA - DRB1/HLA - DQA1附近的变异）提供了更多支持信息。
