☆ 4.2 Article

I kappa B alpha promoter polymorphisms in patients with Behcet's disease

DISEASE MARKERS (2010)

期刊

DISEASE MARKERS

卷 28, 期 1, 页码 55-62

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HINDAWI LTD

DOI: 10.1155/2010/305953

关键词

I kappa B alpha; NFkB inhibitor; polymorphisms; Behcet's disease

类别

Biotechnology & Applied Microbiology Genetics & Heredity Medicine, Research & Experimental Pathology

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摘要

To investigate the role of I kappa B alpha promoter polymorphisms in the development of Behcet's disease, eighty-six patients with Behcet's disease and 120 healthy controls were enrolled in this study. The I kappa B alpha -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 I kappa B alpha -826C/T and -826T/T were significantly higher in the patients with Behcet's disease than in the controls. Both in the dominant and in the recessive models, the patients with Behcet's disease have higher frequencies of the I kappa B alpha -826T containing genotype than the controls. The allele frequency of I kappa B alpha -826T was significantly increased in the patients with Behcet's disease. The frequencies of the I kappa B alpha -881A -826T -550A -519C -297C and I kappa B alpha -881A -826T -550A -519T -297C haplotypes were significantly higher in the patients with Behcet's disease than in the controls. In contrast, the haplotype frequency of I kappa B alpha -881A -826C -550A -519C -297C in the patients with Behcet's disease was significantly decreased. This study also revealed that the Behcet's disease patients with I kappa B alpha -826T/T have higher prevalence of skin lesions than those without I kappa B alpha -826T/T. In summary, the I kappa B alpha -826T allele, I kappa B alpha -881A -826T -550A -519C -297C and I kappa B alpha -881A -826T -550A -519T -297C haplotypes might be associated with susceptibility to Behcet's disease. The I kappa B alpha -826T/T genotype was related to the development of skin lesions in the patients with Behcet's disease.

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Case report: Novel variants in RELA associated with familial Behcet's-like disease

Jason W. An, Pallavi Pimpale-Chavan, Deborah L. Stone, Marcia Bandeira, Fatma Dedeoglu, Jeffrey Lo, John Bohnsack, Sofia Rosenzweig, Oskar Schnappauf, Dilan Dissanayake, Linda T. Hiraki, Daniel L. Kastner, Christina Pelajo, Ronald M. Laxer, Ivona Aksentijevich

Summary: RELA haploinsufficiency is an autoinflammatory condition characterized by intermittent fevers and mucocutaneous ulcerations. Only eight cases have been reported in the literature, but this study adds four families with three novel and one previously described pathogenic variant in RELA. Clinical features include orogenital ulcers, rash, joint inflammation, and fever. Treatment with glucocorticoids, colchicine, and TNF inhibitors has shown benefit. The study highlights the importance of the NF-kappa B pathway and the regulatory role of RELA in mucosal homeostasis, and suggests considering RELA associated inflammatory disease in patients with Behcet's Disease, particularly those with early onset and/or a strong family history.

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