title: Evidence for genetic association of TBX21 and IFNG with systemic lupus erythematosus in a Chinese Han population.
abstract: TBX21 recode T-bet which is an important transcription factor that drives the Th1 immune response primarily by promoting expression of the interferon-gamma (IFNG) gene. Recent studies have shown that genetic variants in TBX21 and IFNG are connected with risk of systemic lupus erythematosus (SLE). The aim of the present study was to replicate these genetic associations with SLE in Anhui Chinese population. Genotyping of 3 variants (rs4794067 in TBX21, rs2069705 and rs2069718 in IFNG) was performed. A total of 3732 subjects were included in the final analysis. The study only identified the association of rs2069705 with SLE susceptibility (T vs. C: odds ratio [OR] = 1.12, 95% confidence interval [CI] = 1.00-1.26, P = 0.046). Combined analysis with Hong Kong GWAS showed that the OR for rs2069705 was 1.10 (95% CI: 1.01-1.21, P = 0.027). Further pooled analysis with Korean populations involving 10498 subjects showed a more significant association between rs2069705 and SLE (T vs. C: OR = 1.11, 95%CI = 1.04-1.19, P = 0.002; TT + TC vs. CC: OR = 1.11, 95%CI = 1.02-1.21, P = 0.012; TT vs. TC + CC: OR = 1.28, 95%CI = 1.07-1.54, P = 0.008; TT vs. CC: OR =  .33, 95%CI = 1.10-1.60, P = 0.003). In addition, we also identified a significant genetic interaction between rs2069705 and rs4794067 in Anhui Chinese population. Our study suggests that IFNG and IFNG-TBX21 interaction are involved in SLE susceptibility.
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.|Anhui Provincial Laboratory of Population Health and Major Disease Screening and Diagnosis, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Rui-Xue
authors.initials: RX
authors.lastname: Leng
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.|Anhui Provincial Laboratory of Population Health and Major Disease Screening and Diagnosis, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Hai-Feng
authors.initials: HF
authors.lastname: Pan
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.|Anhui Provincial Laboratory of Population Health and Major Disease Screening and Diagnosis, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Juan
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.|Anhui Provincial Laboratory of Population Health and Major Disease Screening and Diagnosis, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Xiao-Ke
authors.initials: XK
authors.lastname: Yang
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.|Anhui Provincial Laboratory of Population Health and Major Disease Screening and Diagnosis, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Chao
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.|Anhui Provincial Laboratory of Population Health and Major Disease Screening and Diagnosis, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Sha-Sha
authors.initials: SS
authors.lastname: Tao
authors.affiliation: Department of Nephrology, The Second Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
authors.forename: De-Guang
authors.initials: DG
authors.lastname: Wang
authors.affiliation: Department of Rheumatology and Immunology, Anhui Provincial Hospital, Affiliated to Anhui Medical University, Hefei, Anhui, China.
authors.forename: Xiao-Mei
authors.initials: XM
authors.lastname: Li
authors.affiliation: Department of Rheumatology and Immunology, Anhui Provincial Hospital, Affiliated to Anhui Medical University, Hefei, Anhui, China.
authors.forename: Xiang-Pei
authors.initials: XP
authors.lastname: Li
authors.affiliation: Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, China.
authors.forename: Wanling
authors.initials: W
authors.lastname: Yang
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.|Anhui Provincial Laboratory of Population Health and Major Disease Screening and Diagnosis, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Dong-Qing
authors.initials: DQ
authors.lastname: Ye
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006723:Hong Kong; D006801:Humans; D007371:Interferon-gamma / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D020825:T-Box Domain Proteins / Q000235:genetics*; D055815:Young Adult; D000098815:T-bet Transcription Factor
chemical_list: C573415:IFNG protein, human; D020825:T-Box Domain Proteins; D000098815:T-bet Transcription Factor; D007371:Interferon-gamma