title: Association between 318C/T polymorphism of the CTLA-4 gene and systemic lupus erythematosus in Iranian patients.
abstract: BACKGROUND
  Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) is an important negative regulator of T-cell response. It is a functional candidate gene connected with susceptibility to systemic lupus erythematosus (SLE). We analyzed the role of -318C/T polymorphism in the promoter region of the CTLA-4 gene in Iranian patients suffering from SLE.
  
  
  METHODS
  A total of 180 SLE patients and 304 healthy ethnically matched controls were enrolled in the study. DNA was extracted from blood samples according to the standard procedure. Polymerase chain reaction restriction fragments length polymorphism (PCR-RFLP) was used to analyze the genotype and allele frequencies of these polymorphisms.
  
  
  RESULTS
  The CC genotype was observed in 170 (94.5%) of the SLE patients, which was significantly different compared to the controls (251 [82.4%]; P = 0.0001, OR = 3.51 95%CI = 1.77-7.53). T allele was significantly more common in the controls (9.2%) compared to SLE patients 2.8% (P = 0.0001, OR = 0.26, 95%CI = 0.13-0.53). There was no significant correlation between different genotypes and age, gender or family history of SLE in the studied population.
  
  
  CONCLUSIONS
  It can be concluded that -318C/T polymorphism of CTLA-4 gene might play a significant role in the development of SLE in the Iranian patients.
authors.affiliation: Golestan University of Medical Sciences, Gorgan, Iran.|Osteoporosis Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mahdieh
authors.initials: M
authors.lastname: Shojaa
authors.affiliation: Department of Rheumatology, Faculty of Medicine, Bone Joint and Connective Tissue Research Center (BJCRC), Golestan University of Medical Sciences, Gorgan, Iran.
authors.forename: Mehrdad
authors.initials: M
authors.lastname: Aghaie
authors.affiliation: Endocrinology & Metabolism Research Center (EMRC), Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mahsa
authors.initials: M
authors.lastname: Amoli
authors.affiliation: Golestan University of Medical Sciences, Gorgan, Iran.
authors.forename: Naemeh
authors.initials: N
authors.lastname: Javid
authors.affiliation: Golestan University of Medical Sciences, Gorgan, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Shakeri
authors.affiliation: Osteoporosis Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Patricia
authors.initials: P
authors.lastname: Khashayar
authors.affiliation: Golestan University of Medical Sciences, Gorgan, Iran.
authors.forename: Alijan
authors.initials: A
authors.lastname: Tabarraei
authors.affiliation: Osteoporosis Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Abbas A
authors.initials: AA
authors.lastname: Keshtkar
authors.affiliation: Golestan University of Medical Sciences, Gorgan, Iran.
authors.forename: Hamid R
authors.initials: HR
authors.lastname: Joshaghani
authors.affiliation: Endocrinology & Metabolism Research Center (EMRC), Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Arghavan
authors.initials: A
authors.lastname: Kouroshnia
authors.affiliation: Department of Public Health, Alborz University of Medical Sciences, Karaj, Iran.|Non-communicable Diseases Research Center, Endocrinology and Metabolism Population Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mostafa
authors.initials: M
authors.lastname: Qorbani
authors.affiliation: Genetics Department, Islamic Azad University Tehran, Tehran Medical Branch, Tehran, Iran.
authors.forename: Faranak
authors.initials: F
authors.lastname: Mahmoudi
authors.affiliation: Medical School, Shahed University of Medical Sciences, Tehran, Iran.
authors.forename: Ramin
authors.initials: R
authors.lastname: Mohebbi
authors.affiliation: Genetics Department, Islamic Azad University Tehran, Tehran Medical Branch, Tehran, Iran.
authors.forename: Neda
authors.initials: N
authors.lastname: Ranjbarpour
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D060908:CTLA-4 Antigen / Q000235:genetics* / Q000276:immunology; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007492:Iran; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012307:Risk Factors; D055815:Young Adult
chemical_list: D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human
keywords: 
  CTLA-4
  ; 318C/T; polymorphism; promoter; systemic lupus erythematosus