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The geneticist's approach to complex disease.遗传学家对复杂疾病的研究方法。
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Clin Exp Immunol. 1994 May;96(2):267-74. doi: 10.1111/j.1365-2249.1994.tb06552.x.
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HLA-DPB1 glutamate 69: a genetic marker of beryllium disease.人类白细胞抗原-DPB1第69位谷氨酸:铍病的一种遗传标志物。
Science. 1993 Oct 8;262(5131):242-4. doi: 10.1126/science.8105536.
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Genetics of scleroderma.硬皮病的遗传学
Clin Dermatol. 1994 Jul-Sep;12(3):337-47. doi: 10.1016/0738-081x(94)90286-0.
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Autoantibodies in systemic sclerosis.系统性硬化症中的自身抗体
Int Rev Immunol. 1995;12(2-4):145-57. doi: 10.3109/08830189509056709.
6
"The sarcoidosis map": a joint survey of clinical and immunogenetic findings in two European countries.“结节病图谱”:欧洲两个国家临床与免疫遗传学研究结果的联合调查
Am J Respir Crit Care Med. 1995 Aug;152(2):557-64. doi: 10.1164/ajrccm.152.2.7633707.
7
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8
Restricted V alpha 2.3 gene usage by CD4+ T lymphocytes in bronchoalveolar lavage fluid from sarcoidosis patients correlates with HLA-DR3.结节病患者支气管肺泡灌洗液中CD4 + T淋巴细胞受限的Vα2.3基因使用与HLA - DR3相关。
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弥漫性肺疾病:遗传易感性与环境接触的产物。

Diffuse lung disease: product of genetic susceptibility and environmental encounters.

作者信息

Lympany P A, du Bois R M

机构信息

Department of Occupational and Environmental Medicine, Imperial College School of Medicine at the National Heart and Lung Institute, London, UK.

出版信息

Thorax. 1997 Jan;52(1):92-4. doi: 10.1136/thx.52.1.92.

DOI:10.1136/thx.52.1.92
PMID:9039244
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1758416/
Abstract

Diffuse (interstitial) lung disease comprises a wide variety of conditions, individually relatively uncommon but collectively being found in approximately 50 per 100,000 population. Some of these diseases are of known aetiology but others are not. It has been suggested that the environment is a major contributory factor in this group of diseases. However, since not all individuals exposed to a common environment develop interstitial diseases, it can be hypothesised that there is a genetic predisposition to their development. These diseases cause major morbidity and mortality due to lung injury and fibrosis. It follows that, if individuals who are genetically predisposed to develop diseases characterised by lung injury and fibrosis can be identified, then management strategies can be designed which will attempt to identify and treat early disease and, in the longer term, to develop targeted genetic interventional approaches to treatment.

摘要

弥漫性(间质性)肺病包含多种病症,每种病症相对不常见,但总体上每10万人中约有50人患病。其中一些疾病病因已知,但其他一些病因不明。有人认为环境是这组疾病的主要促成因素。然而,由于并非所有暴露于共同环境的个体都会患上间质性疾病,因此可以推测存在导致这些疾病发生的遗传易感性。这些疾病由于肺损伤和纤维化而导致严重的发病和死亡。因此,如果能够识别出具有发生以肺损伤和纤维化为特征的疾病的遗传易感性个体,那么就可以设计管理策略,试图识别和早期治疗疾病,并从长远来看,开发针对性的基因介入治疗方法。