家族性系统性红斑狼疮：遗传和环境因素的作用
Familial systemic lupus erythematosus: the role of genetic and environmental factors.
作者信息
Eroglu G E, Kohler P F
机构信息
Department of Medicine, Division of Allergy and Clinical Immunology, Tulane University School of Medicine, New Orleans, Louisiana, USA.
出版信息
Ann Rheum Dis. 2002 Jan;61(1):29-31. doi: 10.1136/ard.61.1.29.
OBJECTIVE
To examine the contribution of genetic and environmental factors to disease occurrence in 26 families with two or more members affected with systemic lupus erythematosus (SLE).
METHODS
Genetic and environmental factors were examined by HLA-A, B, C/DR typing and by determining the presence of lymphocytotoxic antibodies (LCA) in patients and their consanguineous and non-consanguineous relatives.
RESULTS
No association between SLE and HLA-A, B, C antigens was found. There was, however, a significant association with HLA-DR2 in white subjects with SLE. The most striking finding was that HLA sharing was increased among the affected members, suggesting genetic similarities. Seven of 14 sib pairs (50%) who had concordant SLE were HLA identical as opposed to an expected 25%. Another interesting finding was that 15/18 (83%) patients with SLE and 11/22 (50%) consanguineous relatives had LCA, while 1/9 (11%) spouses, and 2/42 (5%) healthy controls had these antibodies.
CONCLUSION
Genetic factors have a role in the development and expression of SLE. Environmental factors may trigger the disease in genetically susceptible hosts.
目的
研究遗传和环境因素对26个有两名或更多成员患系统性红斑狼疮（SLE）的家庭中疾病发生的影响。
方法
通过HLA - A、B、C/DR分型以及检测患者及其近亲与非近亲亲属中淋巴细胞毒性抗体（LCA）的存在情况来研究遗传和环境因素。
结果
未发现SLE与HLA - A、B、C抗原之间存在关联。然而，在患SLE的白人受试者中，与HLA - DR2存在显著关联。最显著的发现是，患病成员之间的HLA共享增加，表明存在遗传相似性。14对同患SLE的同胞中有7对（50%）HLA相同，而预期比例为25%。另一个有趣的发现是，18名SLE患者中有15名（83%）以及22名近亲中有11名（50%）有LCA，而9名配偶中有1名（11%）以及42名健康对照中有2名（5%）有这些抗体。
结论
遗传因素在SLE的发生和表现中起作用。环境因素可能在遗传易感宿主中引发该疾病。
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