Dilley A, Hooper W C, Austin H, Jamil M, Miller C, Stokes M, Evatt B, Eldridge J
Hematologic Diseases Branch, Division of AIDS, STD, and Laboratory Research, National Center for Infectious Diseases, Centers for Disease Control and Prevention, US Department of Health and Human Services, Atlanta, Georgia 30333, USA.
J Thromb Haemost. 2003 Nov;1(11):2317-21. doi: 10.1046/j.1538-7836.2003.00416.x.
Legg-Perthes disease is a pediatric hip disorder characterized by avascular necrosis of the femoral head. The etiology of Legg-Perthes disease may involve repeated interruptions of the blood supply to the proximal femur. Thus, the role of thrombosis in Legg-Perthes disease is of interest. The focus of this analysis is an evaluation of the relationship between Legg-Perthes disease and the beta fibrinogen gene G-455-A polymorphism in 55 cases of Legg-Perthes disease and 56 age, race, and gender-matched healthy controls. Parents of subjects completed a questionnaire about their child's lifestyle and medical history. Blood was obtained for plasma and DNA analysis. Study subjects were predominantly white (93%), male (77%) and under age 16 (70%). Cases were more likely to be exposed to passive smoke than were controls (odds ratio 5.6, 95% confidence interval 2.0-12.0). Assuming a dominant genetic model, individuals who possessed either the G/A or A/A genotype were over three times more likely to have Legg-Perthes disease compared to those without the polymorphism (odds ratio 3.4, 95% confidence interval 1.5-7.8). Separate analyzes by smoke exposure revealed that the excess risk of the G-455-A polymorphism occurred in those exposed (odds ratio 7.0) as opposed to those unexposed to passive smoke (odds ratio 1.9). Although this difference in the odds ratios is not statistically significant (P=0.2), it suggests a possible interactive effect of cigarette smoke and the b fibrinogen gene G-455-A polymorphism in the risk of developing Legg-Perthes disease.
莱-佩二氏病是一种小儿髋关节疾病，其特征为股骨头缺血性坏死。莱-佩二氏病的病因可能涉及股骨近端血液供应的反复中断。因此，血栓形成在莱-佩二氏病中的作用备受关注。本分析的重点是评估55例莱-佩二氏病患者与56例年龄、种族和性别匹配的健康对照者中，莱-佩二氏病与β纤维蛋白原基因G-455-A多态性之间的关系。受试者的父母填写了一份关于其子女生活方式和病史的问卷。采集血液用于血浆和DNA分析。研究对象主要为白人（93%）、男性（77%）且年龄在16岁以下（70%）。与对照组相比，病例组更有可能接触到被动吸烟（优势比5.6，95%置信区间2.0 - 12.0）。假设为显性遗传模式，与没有该多态性的个体相比，拥有G/A或A/A基因型的个体患莱-佩二氏病的可能性高出三倍多（优势比3.4，95%置信区间1.5 - 7.8）。按吸烟暴露情况进行的单独分析显示，G-455-A多态性的额外风险出现在暴露组（优势比7.0），而非未接触被动吸烟的组（优势比1.9）。尽管优势比的这种差异无统计学意义（P = 0.2），但它提示香烟烟雾与β纤维蛋白原基因G-455-A多态性在患莱-佩二氏病风险中可能存在交互作用。
