title: Association of AFF1 rs340630 and AFF3 rs10865035 polymorphisms with systemic lupus erythematosus in a Chinese population.
abstract: The aim of this study was to evaluate whether two single-nucleotide polymorphisms (SNPs), AF4/FMR2 family, member 1 (AFF1) rs340630 and AF4/FMR2 family, member 3 (AFF3) rs10865035, show significant evidence for association with systemic lupus erythematosus (SLE) in a Chinese population. A total of 868 Chinese patients with SLE and 975 geographically and ethnically matched healthy control subjects were enrolled in the current study. The genotypes of these two SNPs were determined by Sequenom MassArray technology. Significant evidence for association of AFF3 rs10865035 with SLE was detected (for A versus G, P = 4.81 × 10(-4), odds ratio (OR) 1.26, 95% confidence interval (95% CI) 1.11-1.44). However, no association between AFF1 rs340630 and SLE was found in the Chinese population (for A versus G, P = 0.79, OR 0.98, 95% CI 0.86-1.12). No significant evidence for association of AFF3 rs10865035 polymorphism with any clinical features was detected. By targeting a variant with convincing evidence for association with rheumatoid arthritis, significant association of AFF3 rs10865035 with SLE was detected in the Chinese population, indicating that AFF3 might be a common autoimmunity gene. Further case-control studies based on larger sample sizes in diverse ethnic populations are required to clarify the role of AFF1 rs340630 in SLE.
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, People's Republic of China.
authors.forename: Han
authors.initials: H
authors.lastname: Cen
authors.forename: Rui-Xue
authors.initials: RX
authors.lastname: Leng
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Mo
authors.initials: M
authors.lastname: Zhou
authors.forename: Chen-Chen
authors.initials: CC
authors.lastname: Feng
authors.forename: Gui-Mei
authors.initials: GM
authors.lastname: Chen
authors.forename: Rui
authors.initials: R
authors.lastname: Li
authors.forename: Hai-Feng
authors.initials: HF
authors.lastname: Pan
authors.forename: Xiang-Pei
authors.initials: XP
authors.lastname: Li
authors.forename: Dong-Qing
authors.initials: DQ
authors.lastname: Ye
mesh_terms: D000328:Adult; D001172:Arthritis, Rheumatoid / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D035602:Transcriptional Elongation Factors; D055815:Young Adult
chemical_list: C097738:AFF3 protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D035602:Transcriptional Elongation Factors; C081449:AFF1 protein, human