Holtmann Gerald, Liebregts Tobias, Siffert Winfried
Department of Internal Medicine, Division of Gastroenterology and Hepatology, University of Essen, Hufelandstr 55, 45122 Essen, Germany.
Best Pract Res Clin Gastroenterol. 2004 Aug;18(4):633-40. doi: 10.1016/j.bpg.2004.04.006.
There are a number of abnormalities of gastrointestinal function, including sensory and motor dysfunction, which are believed to play a role in the manifestation of symptoms in patients with functional gastrointestinal disorders (FGID). In addition, there is a remarkable psychiatric comorbidity. Family and twin studies have provided strong evidence for a clustering of FGID in families and an increased concordance in monozygotic compared to dizygotic twins. This points towards the role of one or more hereditary (genetic) factors. Considering these disorders of function and the psychiatric comorbidity, polymorphisms of adrenergic, opioidergic or serotonergic receptors as well as G-protein beta3 (GNB3) subunit gene polymorphisms (C825T) and polymorphisms of 5-HT transporter genes are suitable causes. In addition, mediators or regulators of mucosal inflammation may trigger events that ultimately result in the manifestation of FGID. Thus, relevant polymorphisms of genes with immunmodulating and/or neuromodulating features (OPRM1, IL-4, IL-4R, TNFalpha) may also play a role in the manifestation of FGIDs.
存在多种胃肠功能异常，包括感觉和运动功能障碍，这些被认为在功能性胃肠疾病（FGID）患者症状的表现中起作用。此外，还存在显著的精神共病情况。家族和双生子研究为FGID在家族中的聚集以及同卵双胞胎相比异卵双胞胎更高的一致性提供了有力证据。这表明一个或多个遗传（基因）因素的作用。考虑到这些功能障碍和精神共病，肾上腺素能、阿片样物质能或5-羟色胺能受体的多态性以及G蛋白β3（GNB3）亚基基因多态性（C825T）和5-羟色胺转运体基因的多态性是合适的病因。此外，黏膜炎症的介质或调节因子可能引发最终导致FGID表现的事件。因此，具有免疫调节和/或神经调节特征的基因（OPRM1、IL-4、IL-4R、TNFα）的相关多态性也可能在FGID的表现中起作用。
