tailieunhanh - Báo cáo y học: " Novel genetic analysis in Behçet’s disease"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học General Psychiatry cung cấp cho các bạn kiến thức về ngành y đề tài: Novel genetic analysis in Behçet’s disease. | Available online http content 11 4 123 Editorial Novel genetic analysis in Behẹet s disease Graham Wallace Academic Unit of Ophthalmology School of Immunity and Infection University of Birmingham Vincent Drive Edgbaston Birmingham B15 2TT UK Corresponding author Graham Wallace Published 5 August 2009 Arthritis Research Therapy 2009 11 123 doi ar2757 This article is online at http content 11 4 123 2009 BioMed Central Ltd See related research by Fei et al. http content 11 3 R66 Abstract Behqet s disease BD is characterized by oral and genital ulceration and is complicated by eye skin joint and central nervous system lesions. It has long been understood that BD has a strong genetic component but to date the identified genes account for only around 30 of the risk for developing the disease and the work has mostly been based on candidate gene analysis. In a recent report Fei and coworkers presented the results of the first genome-wide analysis of patients with BD. These findings suggest new pathways for investigation in this complex disease. Error like straws upon the surface flow He who would search for pearls must dive below John Dryden 1678 Fei and coworkers 1 identified novel single nucleotide polymorphisms SNPs in five genes KIAA1529 CPVL LOC100129342 UBASH3B and UBAC2 that encode proteins with both known and unknown functions. Moreover subset analysis showed links between some of the SNPs and particular manifestations of Behqet s disease BD . KIAA1529 and LOC100129342 have no known function but the latter SNP on chromosome 1p34 confirms a locus previously identified in a multiplex family study 2 . UBASH3B and UBAC2 encode ubiquitin-associated proteins. The ubiquitin system is best described in targeting misfolded or damaged proteins for proteosomal degradation but it is also involved in several other cellular processes including regulation of nuclear factor-KB .