两个新的易感性基因座 1q24.2 和 11p11.2 赋予严重痤疮发病风险。

Two new susceptibility loci 1q24.2 and 11p11.2 confer risk to severe acne.

机构信息

1] Department of Dermatology, First Affiliated Hospital of Kunming Medical University, and Institute of Dermatology & Venereology of Yunnan province, Kunming 650032, China [2].

1] Laboratory for Conservation and Utilization of Bio-Resources & Key Laboratory for Microbial Resources of the Ministry of Education, Yunnan University, Kunming 650091, China [2] State Key Laboratory of Genetic Resources and Evolution, and Yunnan Laboratory of Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China [3].

出版信息

Nat Commun. 2014;5:2870. doi: 10.1038/ncomms3870.

DOI:10.1038/ncomms3870

PMID:24399259

Abstract

Severe acne is a chronic inflammatory skin disorder characterized by widespread inflammatory lesions including nodules, cysts and potential scarring. Here we perform the first genome-wide association study of severe acne in a Chinese Han population comprising 1,056 cases and 1,056 controls using the Illumina HumanOmniZhongHua-8 BeadChip. In an independent cohort of 1,860 cases and 3,660 controls of Chinese Han, we replicate 101 SNPs of which 3 showed consistent association. We identify two new susceptibility loci at 11p11.2 (DDB2, rs747650, P(combined)=4.41 × 10⁻⁹ and rs1060573, P(combined)=1.28 × 10⁻⁸) and 1q24.2 (SELL, rs7531806, P(combined)=1.20 × 10⁻⁸) that are involved in androgen metabolism, inflammation processes and scar formation in severe acne. These results point to new genetic susceptibility factors and suggest several new biological pathways related to severe acne.

摘要

严重痤疮是一种慢性炎症性皮肤病，其特征为广泛的炎症性病变，包括结节、囊肿和潜在的瘢痕。在这里，我们对一个由 1056 例病例和 1056 例对照组成的中国汉族人群中的严重痤疮进行了首次全基因组关联研究，使用的是 Illumina HumanOmniZhongHua-8 BeadChip。在一个由 1860 例病例和 3660 例对照组成的中国汉族独立队列中，我们复制了 101 个 SNP，其中 3 个 SNP 显示出一致的相关性。我们在 11p11.2 处确定了两个新的易感位点（DDB2，rs747650，P(combined)=4.41 × 10⁻⁹ 和 rs1060573，P(combined)=1.28 × 10⁻⁸）和 1q24.2（SELL，rs7531806，P(combined)=1.20 × 10⁻⁸），这些位点涉及雄激素代谢、炎症过程和严重痤疮的瘢痕形成。这些结果指出了新的遗传易感性因素，并提示了与严重痤疮相关的几个新的生物学途径。