Jung C, Hugot J-P
Hopital Robert Debré, Service de gastroentérologie et nutrition pédiatriques, 48, boulevard Sérurier, 75019 Paris, France.
Gastroenterol Clin Biol. 2009 Jun;33 Suppl 3:S123-30. doi: 10.1016/S0399-8320(09)73147-1.
The genetic component of Inflammatory Bowel Diseases is among the best known for complex genetic disorders. If the functional candidate gene approach was rarely fruitful in the past, genome-wide scans allowed finding several susceptibility genes for Crohn disease including NOD2, IL23R, ATG16L1, IRGM, TNFSF15, a region close to PTGER4, PTPN2, PTPN22, NKX2-3 and many others. Only one gene, ECM1, has been reported for ulcerative colitis alone. We now need to further explore these new genes before to understand their biological role. However they clearly demonstrate the importance of innate immunity and autophagy for Crohn's disease and of the TH-17 differentiation for ulcerative colitis, Crohn's disease and other inflammatory disorders.
炎症性肠病的遗传成分在复杂遗传疾病中是最为人所知的。如果说过去功能候选基因方法很少取得成果，那么全基因组扫描则发现了多个克罗恩病的易感基因，包括NOD2、IL23R、ATG16L1、IRGM、TNFSF15、靠近PTGER4的一个区域、PTPN2、PTPN22、NKX2 - 3等等。仅针对溃疡性结肠炎报道了一个基因ECM1。我们现在需要进一步探索这些新基因，然后才能了解它们的生物学作用。然而，它们清楚地证明了固有免疫和自噬对克罗恩病的重要性，以及TH - 17分化对溃疡性结肠炎、克罗恩病和其他炎症性疾病的重要性。
