原创力文档replicated associations of tnfaip3, tnip1 and ets1 with systemic lupus erythematosus in a southwestern chinese population复制tnfaip3协会,tnip1 ets1与系统性红斑狼疮在西南中国人口.pdfVIP
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replicated associations of tnfaip3, tnip1 and ets1 with systemic lupus erythematosus in a southwestern chinese population复制tnfaip3协会,tnip1 ets1与系统性红斑狼疮在西南中国人口
Zhong et al. Arthritis Research Therapy 2011, 13:R186
/content/13/6/R186
RESEARCH ARTICLE Open Access
Replicated associations of TNFAIP3, TNIP1 and
ETS1 with systemic lupus erythematosus in a
southwestern Chinese population
1,4† 2,3*† 1,5 2,3 2,3 1,5 1 4*
Hua Zhong , Xiao-lan Li , Ming Li , Li-xia Hao , Rong-wei Chen , Kun Xiang , Xue-bin Qi , Runlin Z Ma
and Bing Su1*
Abstract
Introduction: Recent genome-wide and candidate gene association studies in large numbers of systemic lupus
erythematosus (SLE) patients have suggested approximately 30 susceptibility genes. These genes are involved in
three types of biological processes, including immune complex processing, toll-like receptor function and type I
interferon production, and immune signal transduction in lymphocytes, and they may contribute to the
pathogenesis of SLE. To better understand the genetic risk factors of SLE, we investigated the associations of seven
SLE susceptibility genes in a Chinese population, including FCGR3A, FCGR2A, TNFAIP3, TLR9, TREX1, ETS1 and TNIP1.
Methods: A total of 20 SNPs spanning the seven SLE susceptibility genes were genotyped in a sample of 564
unrelated SLE patients and 504 unrelated healthy controls recruited from Yunnan, southwestern China. The
associations of SNPs with SLE were assessed by statistical analysis.
Results: Five SNPs in two genes (TNFAIP3 and ETS1) were significantly associated with SLE (corrected P values
ranging from 0.03 to 5.5 × 10-7). Through stratified analysis, TNFAIP3 and ETS1 showed significant associations with
multiple SLE subphenotypes (such as malar rash, arthritis, hematologic disorder and antinuclear antibody) while
TNIP1 just showed relatively weak
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