系统性风湿性疾病发展中的遗传学、环境因素及基因-环境相互作用
Genetics, environment, and gene-environment interactions in the development of systemic rheumatic diseases.
作者信息
Sparks Jeffrey A, Costenbader Karen H
机构信息
Division of Rheumatology, Immunology and Allergy, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.
Division of Rheumatology, Immunology and Allergy, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.
出版信息
Rheum Dis Clin North Am. 2014 Nov;40(4):637-57. doi: 10.1016/j.rdc.2014.07.005. Epub 2014 Sep 2.
Rheumatic diseases offer distinct challenges to researchers because of heterogeneity in disease phenotypes, low disease incidence, and geographic variation in genetic and environmental factors. Emerging research areas, including epigenetics, metabolomics, and the microbiome, may provide additional links between genetic and environmental risk factors in the pathogenesis of rheumatic disease. This article reviews the methods used to establish genetic and environmental risk factors and studies gene-environment interactions in rheumatic diseases, and provides specific examples of successes and challenges in identifying gene-environment interactions in rheumatoid arthritis, systemic lupus erythematosus, and ankylosing spondylitis. Emerging research strategies and future challenges are discussed.
由于疾病表型的异质性、低发病率以及遗传和环境因素的地理差异，风湿性疾病给研究人员带来了独特的挑战。包括表观遗传学、代谢组学和微生物组学在内的新兴研究领域，可能会在风湿性疾病发病机制中的遗传和环境风险因素之间提供更多联系。本文综述了用于确定遗传和环境风险因素的方法，以及研究风湿性疾病中基因-环境相互作用的方法，并提供了在类风湿关节炎、系统性红斑狼疮和强直性脊柱炎中识别基因-环境相互作用的成功案例和挑战的具体实例。还讨论了新兴的研究策略和未来的挑战。
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