全基因组关联研究在日本人群中鉴定出特应性皮炎的 8 个新易感位点。
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
机构信息
Laboratory for Respiratory Diseases, Center for Genomic Medicine, RIKEN, Yokohama, Japan.
出版信息
Nat Genet. 2012 Nov;44(11):1222-6. doi: 10.1038/ng.2438. Epub 2012 Oct 7.
Atopic dermatitis is a common inflammatory skin disease caused by interaction of genetic and environmental factors. On the basis of data from a genome-wide association study (GWAS) and a validation study comprising a total of 3,328 subjects with atopic dermatitis and 14,992 controls in the Japanese population, we report here 8 new susceptibility loci: IL1RL1-IL18R1-IL18RAP (P(combined) = 8.36 × 10(-18)), the major histocompatibility complex (MHC) region (P = 8.38 × 10(-20)), OR10A3-NLRP10 (P = 1.54 × 10(-22)), GLB1 (P = 2.77 × 10(-16)), CCDC80 (P = 1.56 × 10(-19)), CARD11 (P = 7.83 × 10(-9)), ZNF365 (P = 5.85 × 10(-20)) and CYP24A1-PFDN4 (P = 1.65 × 10(-8)). We also replicated the associations of the FLG, C11orf30, TMEM232-SLC25A46, TNFRSF6B-ZGPAT, OVOL1, ACTL9 and KIF3A-IL13 loci that were previously reported in GWAS of European and Chinese individuals and a meta-analysis of GWAS for atopic dermatitis. These findings advance the understanding of the genetic basis of atopic dermatitis.
特应性皮炎是一种常见的炎症性皮肤疾病，由遗传和环境因素相互作用引起。在一项全基因组关联研究（GWAS）和一项验证研究的数据基础上，该研究共纳入了 3328 名特应性皮炎患者和 14992 名对照者，我们在日本人群中报告了 8 个新的易感基因座：IL1RL1-IL18R1-IL18RAP（合并 P 值=8.36×10(-18)）、主要组织相容性复合体（MHC）区域（P=8.38×10(-20)）、OR10A3-NLRP10（P=1.54×10(-22)）、GLB1（P=2.77×10(-16)）、CCDC80（P=1.56×10(-19)）、CARD11（P=7.83×10(-9)）、ZNF365（P=5.85×10(-20)）和 CYP24A1-PFDN4（P=1.65×10(-8)）。我们还复制了 FLG、C11orf30、TMEM232-SLC25A46、TNFRSF6B-ZGPAT、OVOL1、ACTL9 和 KIF3A-IL13 基因座在欧洲和中国人群 GWAS 以及特应性皮炎 GWAS 荟萃分析中的关联。这些发现提高了我们对特应性皮炎遗传基础的理解。
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