ELF1 is associated with systemic lupus erythematosus in Asian populations

Jing Yang, Wanling Yang, Nattiya Hirankarn, Dong Qing Ye, Yan Zhang, Hai Feng Pan, Chi Chiu Mok, Tak Mao Chan, Raymond Woon Sing Wong, Mo Yin Mok, Ka Wing Lee, Sik Nin Wong, Alexander Moon Ho Leung, Xiang Pei Li, Yingyos Avihingsanon, Pornpimol Rianthavorn, Thavatchai Deekajorndej, Kanya Suphapeetiporn, Vorasuk Shotelersuk, Larry BaumPatrick Kwan, Tsz Leung Lee, Marco Hok Kung Ho, Pamela Pui Wah Lee, Wilfred Hing Sang Wong, Shuai Zeng, Jing Zhang, Chun Ming Wong, Irene Oi Lin Ng, Maria Mercè Garcia-Barceló, Stacey S. Cherny, Paul Kwong Hang Tam, Pak Chung Sham, Chak Sing Lau, Yu Lung Lau

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55 Citations (Scopus)


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.

Original languageEnglish
Article numberddq474
Pages (from-to)601-607
Number of pages7
JournalHuman Molecular Genetics
Issue number3
Publication statusPublished - 1 Feb 2011

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