title: Is there a genetic predisposition for Turkish patients with sarcoidosis in the 329-bp region containing the BTNL2 rs2076530 polymorphism?
abstract: OBJECTIVE
  Sarcoidosis is a complex, multifactorial immune disorder with unknown etiology. A single nucleotide polymorphism (G→A, rs2076530) in the butyrophilin-like 2 (BTNL2) gene results in a truncating protein formation. It has been previously reported that this variation may be a risk factor for sarcoidosis in certain ethnic groups. This study was conducted to determine whether there is any genetic predisposition for the BTNL2 rs2076530 polymorphism in the 329-bp region in Turkish patients with sarcoidosis.
  
  
  METHODS
  DNA samples were obtained from volunteers including 53 Turkish patients with sarcoidosis and 52 healthy controls. Analysis of the 329-bp region was carried out by polymerase chain reaction and sequencing of genomic DNA.
  
  
  RESULTS
  We did not find any genetic variation except the rs2076530 polymorphism in the 329-bp region. The AA genotype was associated with an increased risk of sarcoidosis in a recessive model [P = 0.027, OR 2.56 (95% CI 1.02-6.49)], but it did not include a risk for sarcoidosis in a dominant model (P = 0.885).
  
  
  CONCLUSIONS
  Our results emphasize the recessive characteristic of the rs2076530 polymorphism in Turkish patients with sarcoidosis. The lack of any genetic variation except rs2076530 in the 329-bp region is another significant finding for Turkish patients.
authors.affiliation: Department of Medical Genetics, Eskişehir Osmangazi University, Eskişehir, Turkey. mozdemir@ogu.edu.tr
authors.forename: Muhsin
authors.initials: M
authors.lastname: Ozdemir
authors.forename: Faruk
authors.initials: F
authors.lastname: Saydam
authors.forename: Emel
authors.initials: E
authors.lastname: Kurt
authors.forename: Irfan
authors.initials: I
authors.lastname: Değirmenci
authors.forename: Tunç
authors.initials: T
authors.lastname: Tuncel
authors.forename: Oğuz
authors.initials: O
authors.lastname: Cilingir
authors.forename: Hasan Veysi
authors.initials: HV
authors.lastname: Güneş
authors.forename: Sevilhan
authors.initials: S
authors.lastname: Artan
mesh_terms: D000071797:Butyrophilins; D016022:Case-Control Studies; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008562:Membrane Glycoproteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012507:Sarcoidosis / Q000208:ethnology / Q000235:genetics*; D014421:Turkey
chemical_list: C408263:BTNL2 protein, human; D000071797:Butyrophilins; D008562:Membrane Glycoproteins