Universite de Montreal IBD Genetics Research Center

描述(由申请人提供)：本申请是对RFA DK-06-504的响应，以继续NIDDK炎症性肠病遗传学联合会(IBDGC)和我们作为遗传研究中心(GRC)的角色。克罗恩病(CD)和溃疡性结肠炎(UC)是两种常见的胃肠道慢性炎症性疾病，统称为炎症性肠病(IBD)。据估计，多达100万美国人受到这些令人衰弱的疾病的影响。IBD可能发生在所有年龄段的人中，但它主要是一种出现在青少年和年轻人中的疾病。目前还没有已知的治疗IBD的方法。在过去的五年中，一些IBD基因(CARD15、IBD5、MYO9B和IL23R)已经被发现，但这些基因并不能解释IBD的所有遗传风险。 复杂性状遗传学的主要挑战之一是有足够的动力进行研究。为了迎接这一挑战，NIDDK支持了北美IBDGC的创建。该联盟由六个GRC和一个数据协调中心(DCC)组成。该联盟的主要目标是收集大量的IBD患者和配对对照的表型良好的队列，并应用最新的分析和技术方法来发现影响个人患CD或UC的易感性的风险因素。蒙大拿大学(UMGRC)在招募研究对象、为NIDDK公共IBD储存库收集样本和信息方面一直并将继续发挥重要作用，并将领导和参与旨在：(1)确定IBD的遗传风险因素，(2)了解这些因素如何导致IBD，以及(3)确定这种知识如何改善这些慢性病患者的临床管理的研究。 IBD是一种主要影响年轻人的慢性消化道炎症性疾病，其特点是长期患病，需要有效的药物治疗和实质性的手术治疗。我们的工作将识别IBD基因，并有望帮助：(1)识别疾病风险人群，(2)预测疾病进程，(3)帮助选择治疗方法，(4)了解导致IBD的生物学机制，以便开发新的预防和治疗干预措施。IBD基因鉴定和方法学的进展也可能适用于其他常见的遗传性疾病。

DESCRIPTION (provided by applicant): This application is submitted in response to RFA DK-06-504 to continue the efforts of the NIDDK Inflammatory Bowel Disease Genetics Consortium (IBDGC) and our role as a Genetic Research Center (GRC). Crohn's disease (CD) and ulcerative colitis (UC) are two common chronic inflammatory diseases of the gastrointestinal tract, collectively known as the inflammatory bowel diseases (IBD). It is estimated that as many as one million Americans are affected with these debilitating diseases. IBD may occur in people of all ages, but it is primarily a disease that arises in adolescents and young adults. Currently there is no known cure for IBD. Over the last five years, a number of IBD genes (CARD15, IBD5, MYO9B, and IL23R) have been identified, but these do not explain all of the genetic risk to IBD. One of the major challenges in complex trait genetics is having sufficiently powered studies. In order to meet this challenge, the NIDDK has supported the creation of the North American IBDGC. This Consortium consists of six GRCs and one data-coordinating center (DCC). The primary goals of this Consortium have been to collect a large and extremely well phenotyped cohort of IBD patients and matched controls and to apply the latest analytical and technological approaches for the discovery of risk factors that influence an individual's predisposition to developing CD or UC. The Universit¿ de Montr¿al GRC (UMGRC) has played and will continue to play an important role in the recruitment of study subjects, collection of samples and information for the NIDDK public IBD repository, and will lead and participate in the studies aimed to: (1) identify genetic risk factors for IBD, (2) understand how these factors can lead to IBD, and (3) determine how this knowledge can improve clinical management of patients with these chronic diseases. IBD is a chronic inflammatory disease of the digestive tract that primarily affects young people and is characterized by long-term illness and the need for potent medical therapy and substantial surgical therapy. Our work will identify IBD genes and is expected to help: (1) identify persons at risk for disease, (2) predict disease course, (3) aid in selection of treatment, (4) understand the biological mechanisms that lead to IBD such that novel preventive and therapeutic interventions can be developed. Advances in IBD gene identification and methodologic approaches may also be applicable to other common genetic disorders.