Kaya Tamer İrfan
Department of Dermatology, Faculty of Medicine, Mersin University, 33079 Mersin, Turkey.
Patholog Res Int. 2012;2012:912589. doi: 10.1155/2012/912589. Epub 2011 Oct 16.
Behçet's disease (BD) is a systemic inflammatory disorder characterized mainly by recurrent oral and genital ulcers and eye involvement. Although the pathogenesis remains poorly understood, a variety of studies have demonstrated that genetic predisposition is a major factor in disease susceptibility. Peculiar geographical distribution of BD along the ancient Silk Road has been regarded as evidence supporting genetic influence. The observed aggregation of BD in families of patients with BD is also supportive for a genetic component in its etiology. HLA-B51 (B510101 subtype) is the most strongly associated genetic marker for BD in countries on the Silk Road. In recent years, several genome-wide association studies and genetic polymorphism studies have also found new genetic associations with BD, which may have a supplementary role in disease susceptibility and/or severity. The author reviewed the HLA and non-HLA genetic association studies.
白塞病（BD）是一种全身性炎症性疾病，主要特征为复发性口腔溃疡、生殖器溃疡和眼部受累。尽管其发病机制仍知之甚少，但多项研究表明，遗传易感性是疾病易感性的主要因素。BD在古代丝绸之路沿线的特殊地理分布被视为支持遗传影响的证据。在BD患者家族中观察到的BD聚集现象也支持其病因中有遗传成分。在丝绸之路沿线国家，HLA - B51（B510101亚型）是与BD关联最密切的遗传标记。近年来，多项全基因组关联研究和基因多态性研究也发现了与BD新的遗传关联，这可能在疾病易感性和/或严重程度方面起补充作用。作者对白塞病的HLA和非HLA遗传关联研究进行了综述。
