Familial systemic sclerosis following exposure to organic solvents and the possible implication of genetic factors.
Familial systemic sclerosis following exposure to organic solvents and the possible implication of genetic factors.
复制标题
接触有机溶剂后的家族性系统性硬化症以及遗传因素的可能影响。
DOI：
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发表时间：
2001
期刊：
影响因子：
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通讯作者：
F. Dammacco
中科院分区：
文献类型：
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作者：
N. Calvani;F. Silvestris;F. Dammacco
遗传和环境因素都被怀疑在系统性硬化症的发病机制中发挥作用。我们比较其发生在3姐妹篇在干洗店工作，并暴露于职业吸入有机溶剂。两个姐妹篇显示人类白细胞抗原（HLA）-DR 11/DQ 7单倍型受到影响。第三个人和其他人一样从事同样的工作10多年，没有任何疾病的迹象。事实上，她有一个不同的HLA单倍型点的重要性，遗传因素在增加系统性硬化症的风险。这表明DR 11/DQ 7单倍型增强了与抗拓扑异构酶-I抗体的产生相关的系统性硬化症的临床亚组的发展，并且环境触发物在具有这种遗传背景的受试者中引发疾病。
Both genetic and environmental factors are suspected to play a role in the pathogenesis of systemic sclerosis. We compare its occurrence in 3 sisters working in a dry cleaner's shop and exposed to occupational inhalation of organic solvents. Two sisters showing the human leukocyte antigens (HLA)-DR11/DQ7 haplotype were affected. The third has maintained the same job as the others for over 10 years and has no signs of the disease. The fact that she has a different HLA haplotype points to the significance of genetic factors in increasing the risk of systemic sclerosis. It is suggested that the DR11/DQ7 haplotype enhances the development of a clinical subset of systemic sclerosis associated with production of anti-topoisomerase-I antibodies, and that environmental triggers prime the disease in subjects with this genetic background.