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 Systemic lupus erythematosus. The EFO term systemic lupus erythematosus 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: systemic lupus erythematosus

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

J Yang, W Yang, N Hirankarn, DQ Ye, Y Zhang, HF Pan, CC Mok, TM Chan, RW Wong, MY Mok, KW Lee, SN Wong, AM Leung, XP Li, Y Avihingsanon, P Rianthavorn, T Deekajorndej, K Suphapeetiporn, V Shotelersuk, L Baum, P Kwan, TL Lee, MH Ho, PP Lee, WH Wong, S Zeng, J Zhang, CM Wong, IO Ng, MM Garcia-Barceló, SS Cherny, PK Tam, PC Sham, CS Lau, YL Lau

TITLE:

ELF1 is associated with systemic lupus erythematosus in Asian populations.

JOURNAL:

Human molecular genetics Feb 2011, Vol 20, pp. 601-7

ABSTRACT:

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. PUBMED: 21044949
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