Genome-wide association study in asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus

Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

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Author(s)

  • Wanling Yang
  • Nan Shen
  • Dong-Qing Ye
  • Qiji Liu
  • Yan Zhang
  • Xiao-Xia Qian
  • Nattiya Hirankarn
  • Dingge Ying
  • Hai-Feng Pan
  • Chi Chiu Mok
  • Tak Mao Chan
  • Raymond Woon Sing Wong
  • Ka Wing Lee
  • Sik Nin Wong
  • Alexander Moon Ho Leung
  • Xiang-Pei Li
  • Yingyos Avihingsanon
  • Chun-Ming Wong
  • Tsz Leung Lee
  • Marco Hok Kung Ho
  • Pamela Pui Wah Lee
  • Yuk Kwan Chang
  • Philip H. Li
  • Ruo-Jie Li
  • Lu Zhang
  • Wilfred Hing Sang Wong
  • Irene Oi Lin Ng
  • Chak Sing Lau
  • Pak Chung Sham
  • Yu Lung Lau

Detail(s)

Original languageEnglish
Article numbere1000841
Journal / PublicationPLoS Genetics
Volume6
Issue number2
Publication statusPublished - Feb 2010
Externally publishedYes

Link(s)

Abstract

Systemic lupus erythematosus is a complex and potentially fatal autoimmune disease, characterized by autoantibody production and multi-organ damage. By a genome-wide association study (320 patients and 1,500 controls) and subsequent replication altogether involving a total of 3,300 Asian SLE patients from Hong Kong, Mainland China, and Thailand, as well as 4,200 ethnically and geographically matched controls, genetic variants in ETS1 and WDFY4 were found to be associated with SLE (ETS1: rs1128334, P = 2.33x10-11, OR = 1.29; WDFY4: rs7097397, P = 8.15x10-12, OR = 1.30). ETS1 encodes for a transcription factor known to be involved in a wide range of immune functions, including Th17 cell development and terminal differentiation of B lymphocytes. SNP rs1128334 is located in the 3'-UTR of ETS1, and allelic expression analysis from peripheral blood mononuclear cells showed significantly lower expression level from the risk allele. WDFY4 is a conserved protein with unknown function, but is predominantly expressed in primary and secondary immune tissues, and rs7097397 in WDFY4 changes an arginine residue to glutamine (R1816Q) in this protein. Our study also confirmed association of the HLA locus, STAT4, TNFSF4, BLK, BANK1, IRF5, and TNFAIP3 with SLE in Asians. These new genetic findings may help us to gain a better understanding of the disease and the functions of the genes involved. © 2010 Yang et al.

Research Area(s)

Citation Format(s)

Genome-wide association study in asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus. / Yang, Wanling; Shen, Nan; Ye, Dong-Qing et al.
In: PLoS Genetics, Vol. 6, No. 2, e1000841, 02.2010.

Research output: Journal Publications and ReviewsRGC 21 - Publication in refereed journalpeer-review

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