DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Acne (severe). The EFO term acne was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: acne

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

L He, WJ Wu, JK Yang, H Cheng, XB Zuo, W Lai, TW Gao, CL Ma, N Luo, JQ Huang, FY Lu, YQ Liu, YJ Huang, QJ Lu, HL Zhang, L Wang, WZ Wang, MM Wang, SX Xiao, Q Sun, CY Li, YP Bai, H Li, ZC Zhou, FS Zhou, G Chen, B Liang, J Qi, XY Yang, T Yang, X Zheng, LD Sun, XJ Zhang, YP Zhang

TITLE:

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

JOURNAL:

Nature communications None 2014, Vol 5, pp. 2870

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. PUBMED: 24399259
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