title: A polymorphism in ERAP1 is associated with susceptibility to ankylosing spondylitis in a Turkish population.
abstract: We assessed the role played by the ERAP1 gene in Turkish patients with ankylosing spondylitis (AS) in terms of disease susceptibility, clinical manifestations, and disease severity. We included 150 consecutive AS patients who met the modified New York classification criteria and 150 healthy controls. We documented the presence of 10 ERAP1 single-nucleotide polymorphisms (SNPs) and HLA-B27 in these patients. ERAP1 SNPs were genotyped using competitive allele-specific polymerase chain reaction. Differences between genotype and allele frequencies were compared using the Pearson's Chi-square test. The associations between ERAP1 SNPs, on the one hand, and with disease severity and clinical findings, on the other, were determined. One SNP, rs26653, was significantly associated with AS susceptibility (OR 1.609, 95% CI 1.163-2.226; p = 0.004). The population-attributable risk of possession of the rs26653 SNP allele was 23.4%. No relationship was noted between HLA-B27 positivity and the distribution of rs26653 genotype frequency. No associations were seen between disease severity measures and clinical manifestations of AS. In summary, an ERAP1 polymorphism was associated with AS in a Turkish population. The contributions of HLA-B27 and the rs26653 SNP to AS pathogenesis appear to be independent.
authors.affiliation: Division of Rheumatology, Gulhane Military Medical Academy School of Medicine, Gn.Tevfik Sağlam Cad., 06018, Etlik, Ankara, Turkey, muhcinar@hotmail.com.
authors.forename: Muhammet
authors.initials: M
authors.lastname: Cinar
authors.forename: Hatice
authors.initials: H
authors.lastname: Akar
authors.forename: Sedat
authors.initials: S
authors.lastname: Yilmaz
authors.forename: Ismail
authors.initials: I
authors.lastname: Simsek
authors.forename: Mutlu
authors.initials: M
authors.lastname: Karkucak
authors.forename: Rahsan Ilıkci
authors.initials: RI
authors.lastname: Sagkan
authors.forename: Aysel
authors.initials: A
authors.lastname: Pekel
authors.forename: Hakan
authors.initials: H
authors.lastname: Erdem
authors.forename: Ismail Yasar
authors.initials: IY
authors.lastname: Avci
authors.forename: Cengizhan
authors.initials: C
authors.lastname: Acikel
authors.forename: Ugur
authors.initials: U
authors.lastname: Musabak
authors.forename: Yusuf
authors.initials: Y
authors.lastname: Tunca
authors.forename: Salih
authors.initials: S
authors.lastname: Pay
mesh_terms: D000328:Adult; D000483:Alleles; D000626:Aminopeptidases / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D015778:Minor Histocompatibility Antigens; D020641:Polymorphism, Single Nucleotide; D012720:Severity of Illness Index; D013167:Spondylitis, Ankylosing / Q000235:genetics*; D014421:Turkey
chemical_list: D015778:Minor Histocompatibility Antigens; D000626:Aminopeptidases; C464841:ERAP1 protein, human