ELF1 is associated with systemic lupus erythematosus in Asian populations.
Systemic lupus erythematosus (SLE) is an autoimmune disease with a strong genetic involvement. The susceptibility genes identified so far can only explain a small proportion of disease heritability. Through a genome-wide association in a Hong Kong Chinese cohort and subsequent replication in two other Asian populations, with a total of 3164 patients and 4482 matched controls, we identified association of ELF1 (E74-like factor 1) with SLE (rs7329174, OR = 1.26, joint P= 1.47 × 10(-8)). ELF1 belongs to the ETS family of transcription factors and is known to be involved in T cell development and function. Database analysis revealed transcripts making use of three alternative exon1s for this gene. Near equivalent expression levels of distinct transcripts initiated from alternative exon1s were detected in peripheral blood mononuclear cells from both SLE patients and healthy controls. Although a direct association of rs7329174 with the three forms of transcripts for this gene was not detected, these findings support an important role of ELF1 in SLE susceptibility and suggest a potentially tight regulation for the expression of this gene.
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine,The University of Hong Kong, 21 Sassoon Road, Hong Kong, China.
Jing
J
Yang
Wanling
W
Yang
Nattiya
N
Hirankarn
Dong Qing
DQ
Ye
Yan
Y
Zhang
Hai-Feng
HF
Pan
Chi Chiu
CC
Mok
Tak Mao
TM
Chan
Raymond Woon Sing
RW
Wong
Mo Yin
MY
Mok
Ka Wing
KW
Lee
Sik Nin
SN
Wong
Alexander Moon Ho
AM
Leung
Xiang-Pei
XP
Li
Yingyos
Y
Avihingsanon
Pornpimol
P
Rianthavorn
Thavatchai
T
Deekajorndej
Kanya
K
Suphapeetiporn
Vorasuk
V
Shotelersuk
Larry
L
Baum
Patrick
P
Kwan
Tsz Leung
TL
Lee
Marco Hok Kung
MH
Ho
Pamela Pui Wah
PP
Lee
Wilfred Hing Sang
WH
Wong
Shuai
S
Zeng
Jing
J
Zhang
Chun-Ming
CM
Wong
Irene Oi Lin
IO
Ng
Maria-Mercè
MM
Garcia-Barceló
Stacey S
SS
Cherny
Paul Kwong-Hang
PK
Tam
Pak Chung
PC
Sham
Chak Sing
CS
Lau
Yu Lung
YL
Lau
D044466:Asian People / Q000235:genetics; D002681:China; D030541:Databases, Genetic; D036383:Ephrin-A2 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006239:Haplotypes; D006723:Hong Kong; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D013601:T-Lymphocytes / Q000378:metabolism; D013785:Thailand; D014157:Transcription Factors
D036383:Ephrin-A2; D014157:Transcription Factors