title: Association between single nucleotide polymorphisms in prospective genes and susceptibility to ankylosing spondylitis and inflammatory bowel disease in a single centre in Turkey.
abstract: OBJECTIVE
  To establish the prevalence of the single nucleotide polymorphisms (SNPs) of endoplasmic reticulum aminopeptidase 1 (ERAP1), IL-23 receptor (IL-23R), signal transducer and activator of transcription 3 (STAT-3) and Janus kinase 2 (JAK-2) in ankylosing spondylitis (AS) and inflammatory bowel disease (IBD) in a Turkish population.
  
  
  METHODS
  A total of 562 subjects who presented at the Ankara University internal medicine departments of rheumatology and gastroenterology outpatient clinics were recruited in this study, including 365 patients with AS, 197 patients with IBD and 230 healthy controls. ERAP1, IL-23R, STAT-3 and JAK-2) were genotyped in competitive allele-specific polymerase chain reactions.
  
  
  RESULTS
  The ERAP1 (rs26653) polymorphism was found to increase the disease risk in patients with AS and IBD compared with the control group (p=0.02 and p=0.01, respectively). In addition, this polymorphism revealed a significant relationship with the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and the Bath AS Functional Index (BASFI) in patients with AS (r=0.829, p < 0.001 and r=0.731, p < 0.001, respectively).
  
  
  CONCLUSIONS
  The ERAP1 gene polymorphism might be a risk factor in the pathogenesis of AS and IBD. In contrast, IL-23R gene polymorphisms may serve a protective role in AS and IBD.
authors.affiliation: Department of Rheumatology, Yıldırım Beyazıt University School of Medicine, Ankara, Turkey. ftr.mustafaturgut@hotmail.com.
authors.forename: Orhan
authors.initials: O
authors.lastname: Küçükşahin
authors.forename: Aşkın
authors.initials: A
authors.lastname: Ateş
authors.forename: Nuran
authors.initials: N
authors.lastname: Türkçapar
authors.forename: Murat
authors.initials: M
authors.lastname: Törüner
authors.forename: Murat
authors.initials: M
authors.lastname: Turgay
authors.forename: Türker
authors.initials: T
authors.lastname: Duman
authors.forename: Ali
authors.initials: A
authors.lastname: Şahin
authors.forename: Mustafa Turgut
authors.initials: MT
authors.lastname: Yıldızgören
authors.forename: Alexis K
authors.initials: AK
authors.lastname: Okoh
authors.forename: Emre
authors.initials: E
authors.lastname: Külahçıoğlu
authors.forename: Şükran
authors.initials: Ş
authors.lastname: Erten
authors.forename: Gülay
authors.initials: G
authors.lastname: Kınıklı
authors.forename: Saeid
authors.initials: S
authors.lastname: Assadpour
authors.forename: Nurşen
authors.initials: N
authors.lastname: Düzgün
mesh_terms: D000328:Adult; D000483:Alleles; D000626:Aminopeptidases / Q000097:blood; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000097:blood / Q000235:genetics*; D053614:Janus Kinase 2 / Q000097:blood; D008297:Male; D008875:Middle Aged; D015778:Minor Histocompatibility Antigens / Q000097:blood; D020641:Polymorphism, Single Nucleotide; D018123:Receptors, Interleukin / Q000097:blood; D012307:Risk Factors; D050796:STAT3 Transcription Factor / Q000097:blood; D012720:Severity of Illness Index; D013167:Spondylitis, Ankylosing / Q000097:blood / Q000235:genetics*; D014421:Turkey
chemical_list: C515500:IL23R protein, human; D015778:Minor Histocompatibility Antigens; D018123:Receptors, Interleukin; D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D000626:Aminopeptidases; C464841:ERAP1 protein, human