title: B-cell activating factor promoter polymorphisms in egyptian patients with systemic lupus erythematosus.
abstract: BACKGROUND
  Systemic lupus erythematosus (SLE) is a heterogonous autoimmune disease involving most immune cells. Studies have revealed a number of cytokine pathways that play important roles in the disease process. Among these is B- cell activating factor (BAFF), which regulates B-cell maturation, survival, and function.
  
  
  OBJECTIVE
  To study the association between BAFF promoter polymorphism and systemic lupus erythematosus (SLE).
  
  
  METHODS
  Single nucleotide polymorphisms in the BAFF promoter region; -2841 (T>C), -2701 (T>A), -871 (C>T) were investigated by PCR-RFLP genotyping in fifty Egyptian SLE patients and thirty normal controls.
  
  
  RESULTS
  The frequency of mutant alleles of both -871C>T and -2701 T>A was higher among SLE patients than controls (p-value <0.001 and 0.000 respectively). There was a highly significant relationship between -871 C>T polymorphism and SLE (P<0.001), with the sensitivity and the specificity of the test being 100 %, and 70%, respectively. Patients expressing the -2701 T>A allele were seven times more prone to SLE than those with the T/T wild genotype (sensitivity of the test = 78%, specificity = 66.7%, odds ratio = 7.09, C.I at 95% = 2.29-22.64).
  
  
  CONCLUSIONS
  Polymorphisms in the regulatory region of the BAFF gene do contribute to the susceptibility to SLE in Egyptian patients, which indicates BAFF as a potential therapeutic target.
authors.affiliation: Clinical and Chemical Pathology Department, Cairo University, Giza, 12411, Egypt. raniaa_zayed@yahoo.com
authors.forename: Rania A
authors.initials: RA
authors.lastname: Zayed
authors.forename: Hala F
authors.initials: HF
authors.lastname: Sheba
authors.forename: Mennat Allah K
authors.initials: MA
authors.lastname: Abo Elazaem
authors.forename: Zainab A
authors.initials: ZA
authors.lastname: Elsaadany
authors.forename: Lobna O
authors.initials: LO
authors.lastname: Elmessery
authors.forename: Jelan A
authors.initials: JA
authors.lastname: Mahmoud
authors.forename: Dalia R
authors.initials: DR
authors.lastname: Abdel Rahman
authors.forename: Faten R
authors.initials: FR
authors.lastname: Abdou
mesh_terms: D000293:Adolescent; D000328:Adult; D053264:B-Cell Activating Factor / Q000235:genetics*; D016022:Case-Control Studies; D004534:Egypt; D005260:Female; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D011401:Promoter Regions, Genetic / Q000235:genetics*; D055815:Young Adult
chemical_list: D053264:B-Cell Activating Factor; C505719:TNFSF13B protein, human
keywords: 2701 T>A; 2841 T>C; 871 C>T; BAFF; Polymorphism; SLE