Tamboli Cyrus P, Cortot Antoine, Colombel Jean-Frédéric
Department of Hepato-Gastroenterology, Hôpital Claude Huriez, Lille, France.
Eur J Gastroenterol Hepatol. 2003 Jun;15(6):587-92. doi: 10.1097/00042737-200306000-00002.
Epidemiological data, notably concordance rates in twin pairs and familial aggregation, have provided strong evidence for the importance of the genetic contribution in inflammatory bowel diseases. Genome wide scanning has been remarkably successful in identifying a number of susceptibility loci. The identification of the IBD1 gene on chromosome 16 as NOD2/CARD15 definitely establishes that a significant proportion of Crohn's disease has an underlying genetic cause. In addition, our knowledge of the clinical impact of other genes in modelling disease phenotypes has increased in parallel. These results have led to great optimism that important clinical applications will result from genetic research in the near future.
流行病学数据，尤其是双胞胎对的一致性率和家族聚集性，为遗传因素在炎症性肠病中的重要性提供了有力证据。全基因组扫描在识别多个易感基因座方面取得了显著成功。16号染色体上的IBD1基因被确定为NOD2/CARD15，这明确表明相当一部分克罗恩病有潜在的遗传病因。此外，我们对其他基因在塑造疾病表型方面的临床影响的认识也同步增加。这些结果让人们非常乐观地认为，在不久的将来，基因研究将带来重要的临床应用。
