title: IkappaBalpha promoter polymorphisms in patients with Behçet's disease.
abstract: To investigate the role of IkappaBalpha promoter polymorphisms in the development of Behçet's disease, eighty-six patients with Behçet's disease and 120 healthy controls were enrolled in this study. The IkappaBalpha -881A/G, -826C/T, -550A/T, -519C/T, and -297C/T polymorphisms were measured by the method of polymerase chain reaction/ restriction fragment length polymorphism. This study demonstrated that the genotype frequencies of IkappaBalpha -826C/T and -826T/T were significantly higher in the patients with Behçet's disease than in the controls. Both in the dominant and in the recessive models, the patients with Behçet's disease have higher frequencies of the IkappaBalpha -826T containing genotype than the controls. The allele frequency of IkappaBalpha -826T was significantly increased in the patients with Behçet's disease. The frequencies of the IkappaBalpha -881A -826T -550A -519C -297C and IkappaBalpha -881A -826T -550A -519T -297C haplotypes were significantly higher in the patients with Behçet's disease than in the controls. In contrast, the haplotype frequency of IkappaBalpha -881A -826C -550A -519C -297C in the patients with Behçet's disease was significantly decreased. This study also revealed that the Behçet's disease patients with IkappaBalpha -826T/T have higher prevalence of skin lesions than those without IkappaBalpha -826T/T. In summary, the IkappaBalpha -826T allele, IkappaBalpha -881A -826T -550A -519C -297C and IkappaBalpha -881A -826T -550A -519T -297C haplotypes might be associated with susceptibility to Behçet's disease. The IkappaBalpha -826T/T genotype was related to the development of skin lesions in the patients with Behçet's disease.
authors.affiliation: Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Yu-Hung
authors.initials: YH
authors.lastname: Hung
authors.forename: Cheng-Chin
authors.initials: CC
authors.lastname: Wu
authors.forename: Tsan-Teng
authors.initials: TT
authors.lastname: Ou
authors.forename: Chia-Hui
authors.initials: CH
authors.lastname: Lin
authors.forename: Ruei-Nian
authors.initials: RN
authors.lastname: Li
authors.forename: Yu-Chih
authors.initials: YC
authors.lastname: Lin
authors.forename: Wen-Chan
authors.initials: WC
authors.lastname: Tsai
authors.forename: Hong-Wen
authors.initials: HW
authors.lastname: Liu
authors.forename: Jeng-Hsien
authors.initials: JH
authors.lastname: Yen
mesh_terms: D000328:Adult; D001528:Behcet Syndrome / Q000235:genetics* / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D020672:I-kappa B Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D000072000:NF-KappaB Inhibitor alpha; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012867:Skin / Q000473:pathology
chemical_list: D005819:Genetic Markers; D020672:I-kappa B Proteins; C000606204:NFKBIA protein, human; D000072000:NF-KappaB Inhibitor alpha