title: Association of genetic variations in the STAT4 and IRF7/KIAA1542 regions with systemic lupus erythematosus in a Northern Han Chinese population.
abstract: Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. Genome-wide association studies have identified SLE susceptibility variations at the IRF7/KIAA1542 locus and with STAT4 gene in European populations. We decided to investigate the association of single-nucleotide polymorphisms (SNPs) in the IRF7/KIAA1542 region (rs4963128, rs2246614, and rs702966) and in STAT4 (rs7574865 and rs7582694) with SLE disease in a Northern Han Chinese population of 748 patients and 750 healthy controls. Our study indicated a strong association between rs7574865 (odds ratio = 0.68; 95% confidence interval 0.59-0.79; p = 1.57 × 10(-6)) and SLE and between rs7574865 and the production of anti-Sm antibodies. Additionally, rs4963128 and rs2246614 were correlated with a variety of clinical subphenotypes, such as lupus nephritis, arthritis, and the production of anti-SSA/B autoantibodies, despite a lack of significant association between these two SNPs and SLE disease susceptibility in general.
authors.affiliation: Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Li
authors.forename: Chunwei
authors.initials: C
authors.lastname: Cao
authors.forename: Haixia
authors.initials: H
authors.lastname: Luan
authors.forename: Chaohua
authors.initials: C
authors.lastname: Li
authors.forename: Chaojun
authors.initials: C
authors.lastname: Hu
authors.forename: Shulan
authors.initials: S
authors.lastname: Zhang
authors.forename: Xiaofeng
authors.initials: X
authors.lastname: Zeng
authors.forename: Fengchun
authors.initials: F
authors.lastname: Zhang
authors.forename: Changqing
authors.initials: C
authors.lastname: Zeng
authors.forename: Yongzhe
authors.initials: Y
authors.lastname: Li
mesh_terms: D000328:Adult; D001168:Arthritis / Q000235:genetics; D001323:Autoantibodies; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D050839:Interferon Regulatory Factor-7 / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008181:Lupus Nephritis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D050797:STAT4 Transcription Factor / Q000235:genetics*; D015398:Signal Transduction
chemical_list: D001323:Autoantibodies; C494234:IRF7 protein, human; D050839:Interferon Regulatory Factor-7; D050797:STAT4 Transcription Factor; C494090:STAT4 protein, human