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JING YANG; WANLING YANG; KA WING LEE; SIK NIN WONG; LEUNG, Alexander Moon Ho; LI, Xiang-Pei; AVIHINGSANON, Yingyos; RIANTHAVORN, Pornpimol; DEEKAJORNDEJ, Thavatchai; SUPHAPEETIPORN, Kanya; SHOTELERSUK, Vorasuk; BAUM, Larry; HIRANKARN, Nattiya; KWAN, Patrick; TSZ LEUNG LEE; HOK KUNG HO, Marco; PUI WAH LEE, Pamela; HING SANG WONG, Wilfred; SHUAI ZENG; JING ZHANG; WONG, Chun-Ming; OI LIN NG, Irene; GARCIA-BARCELO, Maria-Mercè; DONG QING YE; CHERNY, Stacey S; KWONG-HANG TAM, Paul; PAK CHUNG SHAM; CHAK SING LAU; YU LUNG LAU; YAN ZHANG; PAN, Hai-Feng; CHI CHIU MOK; TAK MAO CHAN; WONG, Raymond Woon Sing; MO YIN MOK
Human molecular genetics, 02/2011, Letnik: 20, Številka: 3Journal Article
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.
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in: SICRIS
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