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Genetics of sarcoidosis.

机译:结节病的遗传学。

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摘要

Sarcoidosis is a multigenic and multifactorial disease. Predisposing genes have been identified and fast progress in molecular technologies including systematic genome-wide association studies and large-scale resequencing will aid the discovery of further risk loci and variants. The exploration of the molecular epidemiology of genetic variants in the pathogenesis of sarcoidosis will allow an assessment of their prognostic usefulness. To this end, different granulomatous disorders of known and unknown etiology should be investigated jointly by genetic, immunobiological, and proteomic approaches. The definition of individual genetic risk profiles in sarcoidosis and other chronic inflammatory disorders seems achievable and a useful route for clinical translation.
机译:结节病是一种多基因和多因素疾病。已经确定了易感基因,分子技术的快速进步,包括系统的全基因组关联研究和大规模重测序,将有助于发现更多的风险基因座和变异体。探索结节病发病机制中遗传变异的分子流行病学将有助于评估其预后的价值。为此,应通过遗传,免疫生物学和蛋白质组学方法共同研究已知病因和病因不同的肉芽肿性疾病。结节病和其他慢性炎性疾病中个体遗传风险谱的定义似乎是可以实现的,并且是临床翻译的有用途径。

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