ELF1 is associated with systemic lupus erythematosus in Asian populations
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AbstractSystemic 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. © The Author 2010. Published by Oxford University Press. All rights reserved.
All Author(s) ListYang J., Yang W., Hirankarn N., Ye D.Q., Zhang Y., Pan H.-F., Mok C.C., Chan T.M., Sing Wong R.W., Mok M.Y., Lee K.W., Wong S.N., Ho Leung A.M., Li X.-P., Avihingsanon Y., Rianthavorn P., Deekajorndej T., Suphapeetiporn K., Shotelersuk V., Baum L., Kwan P., Lee T.L., Kung Ho M.H., Wah Lee P.P., Sang Wong W.H., Zeng S., Zhang J., Wong C.-M., Lin Ng I.O., Garcia-Barcelo M.-M., Cherny S.S., Tam P.K.-H., Sham P.C., Lau C.S., Lau Y.L.
Journal nameHuman Molecular Genetics
Year2011
Month2
Day1
Volume Number20
Issue Number3
PublisherOxford University Press
Place of PublicationUnited Kingdom
Pages601 - 607
ISSN0964-6906
eISSN1460-2083
LanguagesEnglish-United Kingdom

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