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GWAS Study

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

He L, Wu WJ, Yang JK et al.

24399259 PubMed ID
GWAS Study Type
7582 Participants
115 Views
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

HL
He L
WW
Wu WJ
YJ
Yang JK
CH
Cheng H
ZX
Zuo XB
LW
Lai W
GT
Gao TW
MC
Ma CL
LN
Luo N
HJ
Huang JQ
LF
Lu FY
LY
Liu YQ
HY
Huang YJ
LQ
Lu QJ
ZH
Zhang HL
WL
Wang L
WW
Wang WZ
WM
Wang MM
XS
Xiao SX
SQ
Sun Q
LC
Li CY
BY
Bai YP
LH
Li H
ZZ
Zhou ZC
ZF
Zhou FS
CG
Chen G
LB
Liang B
QJ
Qi J
YX
Yang XY
YT
Yang T
ZX
Zheng X
SL
Sun LD
ZX
Zhang XJ
ZY
Zhang YP
Chapter II

Abstract

Summary of the research findings

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.

1,031 Han Chinese ancestry cases, 1,031 Han Chinese ancestry controls

Chapter III

Study Statistics

Key metrics and study information

7582
Total Participants
GWAS
Study Type
Yes
Replicated
1,860 Han Chinese ancestry cases, 3,660 Han Chinese ancestry controls
Replication Participants
East Asian
Ancestry
China
Recruitment Country
Chapter IV

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