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Role of genetics in the diagnosis and prognosis of Crohns disease

机译:遗传学在克罗恩病诊断和预后中的作用

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摘要

Considering the epidemiological, genetic and immunological data, we can conclude that the inflammatory bowel diseases are heterogeneous disorders of multifactorial etiology in which hereditability and environment interact to produce the disease. It is probable that patients have a genetic predisposition for the development of the disease coupled with disturbances in immunoregulation. Several genes have so far been related to the diagnosis of Crohn’s disease. These genes are related to innate pattern recognition receptors, to epithelial barrier homeostasis and maintenance of epithelial barrier integrity, to autophagy and to lymphocyte differentiation. So far, the strongest and most replicated associations with Crohn’s disease have been demonstrated with NOD2, IL23R and ATG16L1 genes. Many genes have so far been implicated in the prognosis of Crohn’s disease and many attempts have been made for classification of genetic profiles in Crohn’s disease. CARD15 seems to be not only a susceptibility gene, but also a disease-modifier gene for Crohn’s disease. Enriching our understanding of Crohn’s disease genetics is of value, but when combining genetic data with functional data the outcome could be of major importance to clinicians.
机译:考虑到流行病学,遗传和免疫学数据,我们可以得出结论,炎症性肠病是多因素病因的异质性疾病,其中遗传性和环境相互作用产生该疾病。患者很可能具有疾病发展的遗传易感性以及免疫调节的紊乱。迄今为止,有几种基因与克罗恩氏病的诊断有关。这些基因与先天性模式识别受体,上皮屏障稳态和上皮屏障完整性的维持,自噬和淋巴细胞分化有关。迄今为止,已经通过NOD2,IL23R和ATG16L1基因证明了与克罗恩氏病最强,最复制的关联。迄今为止,许多基因都与克罗恩氏病的预后有关,并且已经做出了许多尝试来对克罗恩氏病的遗传特征进行分类。 CARD15似乎不仅是克罗恩病的易感基因,而且是疾病改良剂基因。丰富我们对克罗恩病遗传学的理解是有价值的,但是当将遗传数据与功能数据结合时,结果对临床医生可能至关重要。

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