Horita Tetsuya, Merrill Joan T
Clinical Pharmacology Research program, Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, OK 73104, USA.
Curr Rheumatol Rep. 2004 Dec;6(6):458-62. doi: 10.1007/s11926-004-0025-0.
Antiphospholipid syndrome (APS) is an autoimmune disease characterized by recurrent arterial or venous thrombosis or fetal loss and the presence of antiphospholipid antibodies (aPL). Genetic factors are thought to play a role in the susceptibility to APS. Similar to many other polygenic autoimmune diseases, human leukocyte antigen associations have been reported. The genetics of b(2)-glycoprotein I, one of the most representative target antigens of aPL, has been extensively studied. Additional genetic risk factors for the development of thrombosis in patients with aPL have also been discussed. However, the genes involved in APS have not been identified because antigen specificity of aPL and the pathophysiology of APS are highly heterogeneous and multifactorial. Genome-wide linkage analysis and larger cohort studies would lead to better understanding of the genes that might be involved in APS.
抗磷脂综合征（APS）是一种自身免疫性疾病，其特征为反复发生动脉或静脉血栓形成、胎儿丢失以及抗磷脂抗体（aPL）的存在。遗传因素被认为在APS易感性中起作用。与许多其他多基因自身免疫性疾病类似，已有关于人类白细胞抗原关联的报道。aPL最具代表性的靶抗原之一β2糖蛋白I的遗传学已得到广泛研究。也讨论了aPL患者发生血栓形成的其他遗传危险因素。然而，由于aPL的抗原特异性和APS的病理生理学具有高度异质性和多因素性，参与APS的基因尚未被确定。全基因组连锁分析和更大规模的队列研究将有助于更好地了解可能参与APS的基因。
