Gül A, Inanç M, Ocal L, Aral O, Koniçe M
Division of Rheumatology, Department of Internal Medicine, Istanbul School of Medicine, University of Istanbul, Istanbul, Turkey.
Ann Rheum Dis. 2000 Aug;59(8):622-5. doi: 10.1136/ard.59.8.622.
Familial aggregation of Behçet's disease has been reported previously. The current study aimed at investigating the sibling recurrence risk ratio (lambda s) for Behçet's disease, which is of value in the estimation of the magnitude of genetic factors in the pathogenesis of Behçet's disease.
170 consecutive unrelated index cases (98 male, 72 female) were interviewed with a detailed questionnaire to ascertain their family trees and the manifestations of Behçet's disease in their relatives. Subsequently, the immediately older sibling, or if an older sibling was not available, the immediately younger sibling, was selected as the second sibling for the evaluation. These siblings were contacted by telephone, and all subjects with recurrent oral ulcers were invited for examination.
31 of the 170 index cases had 51 relatives fulfilling the International Study Group criteria. Among 166 second siblings, seven had Behçet's disease (six male, one female) and 22 siblings (eight male, 14 female) with recurrent oral ulcers were identified. Sibling recurrence rate-defined as the ratio of the risk of being affected among the siblings of patients and the risk of being affected in the general population- was found to be 4.2%, which gives a lambda s value for Behçet's disease of between 11.4 and 52.5 in Turkey.
A high lambda s value supports a strong genetic background for Behçet's disease which will be helpful in designing genetic linkage studies.
先前已有关于白塞病家族聚集性的报道。本研究旨在调查白塞病的同胞复发风险率（λs），这对于评估白塞病发病机制中遗传因素的大小具有重要意义。
对170例连续的非亲缘关系索引病例（98例男性，72例女性）进行详细问卷调查，以确定其家族谱系以及亲属中白塞病的表现。随后，选择年龄稍大的同胞，若没有年龄稍大的同胞，则选择年龄稍小的同胞作为第二个同胞进行评估。通过电话联系这些同胞，邀请所有复发性口腔溃疡的受试者前来检查。
170例索引病例中有31例有51名亲属符合国际研究组标准。在166名第二个同胞中，7例患有白塞病（6例男性，1例女性），并确定了22名患有复发性口腔溃疡的同胞（8例男性，14例女性）。同胞复发率（定义为患者同胞中患病风险与一般人群中患病风险之比）为4.2%，在土耳其，白塞病的λs值在11.4至52.5之间。
高λs值支持白塞病有强大的遗传背景，这将有助于设计基因连锁研究。
