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Genome-wide association study in asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus
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نویسنده
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yang w. ,shen n. ,ye d.-q. ,liu q. ,zhang y. ,qian x.-x. ,hirankarn n. ,ying d. ,pan h.-f. ,mok c.c. ,chan t.m. ,wong r.w.s. ,lee k.w. ,mok m.y. ,wong s.n. ,leung a.m.h. ,li x.-p. ,avihingsanon y. ,wong c.-m. ,lee t.l. ,ho m.h.k. ,lee p.p.w. ,chang y.k. ,li p.h. ,li r.-j. ,zhang l. ,wong w.h.s. ,ng i.o.l. ,lau c.s. ,sham p.c. ,lau y.l.
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منبع
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plos genetics - 2010 - دوره : 6 - شماره : 2
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چکیده
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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.
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آدرس
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department of paediatrics and adolescent medicine,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, joint molecular rheumatology laboratory of the institute of health sciences,shanghai renji hospital,shanghai jiaotong university school of medicine,shanghai, China, department of epidemiology and biostatistics,anhui medical university,school of public health,hefei,anhui, China, department of paediatrics and adolescent medicine,lks faculty of medicine,university of hong kong,pokfulam,hong kong,department of medical genetics,key laboratory for experimental teratology of the ministry of education,shandong university school of medicine,jinan,shandong, China, department of paediatrics and adolescent medicine,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, joint molecular rheumatology laboratory of the institute of health sciences,shanghai renji hospital,shanghai jiaotong university school of medicine,shanghai, China, department of microbiology,faculty of medicine,chulalongkorn university,bangkok, Thailand, department of paediatrics and adolescent medicine,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, department of epidemiology and biostatistics,anhui medical university,school of public health,hefei,anhui, China, department of medicine,tuen mun hospital,new territory, Hong Kong, department of medicine,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, department of medicine,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, department of medicine,pamela youde nethersole eastern hospital,chai wan, Hong Kong, department of medicine,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, department of paediatrics and adolescent medicine,tuen mun hospital,new territory, Hong Kong, department of medicine,queen elizabeth hospital,kowloon, Hong Kong, department of rheumatology,anhui provincial hospital,hefei,anhui, China, department of medicine,faculty of medicine,chulalongkorn university,bangkok, Thailand, department of pathology,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, department of paediatrics and adolescent medicine,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, department of paediatrics and adolescent medicine,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, department of paediatrics and adolescent medicine,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, department of paediatrics and adolescent medicine,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, department of paediatrics and adolescent medicine,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, department of paediatrics and adolescent medicine,lks faculty of medicine,university of hong kong,pokfulam,hong kong,department of epidemiology and biostatistics,anhui medical university,school of public health,hefei,anhui, China, department of paediatrics and adolescent medicine,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, department of paediatrics and adolescent medicine,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, department of pathology,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, department of medicine,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, department of psychiatry,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong, department of paediatrics and adolescent medicine,lks faculty of medicine,university of hong kong,pokfulam, Hong Kong
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Authors
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