Wang HongYan, Guo MeiHua, Shen SongKe, He Li, Zhang XueJun, Zuo XianBo, Yang Sen
Institute of Dermatology and Department of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China.
J Dermatol. 2015 Apr;42(4):378-81. doi: 10.1111/1346-8138.12754. Epub 2015 Jan 9.
Acne vulgaris is a common skin disease characterized by chronic inflammation of the pilosebaceous unit resulting from androgen-induced increased sebum production, altered keratinization, inflammation and bacterial colonization of hair follicles by propionibacterium acnes. Our previous genome-wide association study on acne has identified two new susceptibility loci. To search for potential gene-gene interactions and investigate the best-fit association models for the single nucleotide polymorphisms (SNP) from these interacting genes, we implemented logistic regression analysis in the combined sample of 2916 cases with severe acne and 4716 controls. The most significant association evidence was observed under an additive model for rs6896064 and under a dominant model the rest of these SNP. Significant interactions between these SNP were observed in this study: the SELL × MRPS36P2 (Padjusted = 4.15 × 10(-10)), TP63 × DDB2 (Padjusted = 7.62 × 10(-08)), DDB2 × CACNA1H (Padjusted = 1.89 × 10(-07)), ADAM19 × GNAI1 × CDH13 (Padjusted = 1.22 × 10(-04)) and ADAM19 × GABRG2 × GNAI2 × CDH13 (Pad justed = 6.33 × 10(-05)). These results may contribute to our understanding of acne genetic etiology and account for the additional risk of certain patients.
寻常痤疮是一种常见的皮肤病，其特征是皮脂腺毛囊的慢性炎症，这是由雄激素诱导的皮脂分泌增加、角质化改变、炎症以及痤疮丙酸杆菌在毛囊中的细菌定植所导致的。我们之前关于痤疮的全基因组关联研究已经确定了两个新的易感基因座。为了寻找潜在的基因-基因相互作用，并研究来自这些相互作用基因的单核苷酸多态性（SNP）的最佳拟合关联模型，我们在2916例重度痤疮患者和4716例对照的合并样本中进行了逻辑回归分析。在rs6896064的加性模型下以及其余这些SNP的显性模型下观察到了最显著的关联证据。在本研究中观察到了这些SNP之间的显著相互作用：SELL×MRPS36P2（校正P值 = 4.15×10⁻¹⁰）、TP63×DDB2（校正P值 = 7.62×10⁻⁸）、DDB2×CACNA1H（校正P值 = 1.89×10⁻⁷）、ADAM19×GNAI1×CDH13（校正P值 = 1.22×10⁻⁴）以及ADAM19×GABRG2×GNAI2×CDH13（校正P值 = 6.33×10⁻⁵）。这些结果可能有助于我们理解痤疮的遗传病因，并解释某些患者的额外风险。
