Genetic epidemiology of irritable bowel syndrome (IBS)

肠易激综合征（IBS）的遗传流行病学

• 批准号: 7025075
• 负责人: YURI ANN SAITO LOFTUS
• 金额: $ 12.69万
• 依托单位: MAYO CLINIC ROCHESTER
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-03-01 至 2009-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7025075
• 关键词: clinical research; disease /disorder etiology; disease /disorder onset; environmental health; family genetics; gene environment interaction; genetic susceptibility; human subject; irritable bowel syndrome; patient oriented research; postdoctoral investigator; psychosomatic disorders; questionnaires; statistics /biometry

DESCRIPTION (provided by applicant): Yuri Ann Saito's long-term research objective is to understand the pathophysiology of functional gastrointestinal disorders so that effective treatments may be found for this common disorder that affects 10- 20% of the population. She believes that this can be achieved in part through the use of advanced epidemiological methods. The K23 Mentored Patient-Oriented Research Career Development Award would provide an excellent opportunity to gain experience in conducting high-quality epidemiological and genetic epidemiological research in functional gastrointestinal diseases. The proposed research plan is targeted toward expanding our basic understanding of why irritable bowel syndrome (IBS) appears to cluster in families, and to evaluate the environmental and possible genetic factors contributing to IBS. A combined case-control and family study is proposed where questionnaire data will be collected from 500 clinic-based patients with IBS, 500 clinic-based controls, and approximately 5000 first-degree relatives. The aims of this study are geared to answer whether IBS truly aggregates in families, what are the characteristics of familial IBS, and whether IBS transmission in families follows a genetic pattern. Thus, this study composed of 3 complementary sections: a familial aggregation study, classification regression tree (CART) analysis to identify clinical and epidemiological features of familial IBS, and complex segregation analysis to determine whether there is evidence of a major gene for IBS. This study's significance is that it will provide meaningful scientific data that would justify future genetic studies including a more extended biospecimen-based study with a search for candidate genes. The study will also provide insight into the non-genetic factors that lead to IBS and its variable manifestations. This career award would build upon her previous experience using survey-based data to study clinic patients and the community and her M.P.H. It would allow her to obtain training in genetic epidemiology, statistical genetics, and genetics through coursework, attending seminars, and through the project itself at an institution rich in clinical and epidemiological research resources. The additional training and the data generated from this research career development award would ensure that she would advance her academic career, successfully compete for independent peer-reviewed funding, and make significant scientific contributions to the understanding of this and other gastrointestinal disorders.

描述(由申请人提供)： Yuri Ann Saito的长期研究目标是了解功能性胃肠道疾病的病理生理学，以便找到有效的治疗方法来治疗这种影响10%-20%人口的常见疾病。她认为，这部分可以通过使用先进的流行病学方法来实现。K23指导的以患者为导向的研究职业发展奖将提供一个绝佳的机会，在功能性胃肠道疾病的高质量流行病学和遗传流行病学研究方面获得经验。拟议的研究计划旨在扩大我们对肠易激综合征(IBS)为什么似乎在家族中聚集的基本理解，并评估导致IBS的环境和可能的遗传因素。建议采用病例对照和家庭研究相结合的方法，从500名临床IBS患者、500名临床对照和大约5000名一级亲属收集问卷数据。这项研究的目的是回答IBS是否真的聚集在家庭中，家族性IBS的特征是什么，以及IBS在家庭中的传播是否遵循遗传模式。因此，本研究由3个互补部分组成：家族聚集性研究，用于确定家族性IBS临床和流行病学特征的分类回归树(CART)分析，以及用于确定是否存在IBS主基因证据的复杂分离分析。这项研究的意义在于，它将提供有意义的科学数据，证明未来的遗传学研究是合理的，包括更广泛的基于生物样品的研究，以寻找候选基因。这项研究还将提供对导致IBS及其各种表现的非遗传因素的洞察。这一职业奖将建立在她以前使用基于调查的数据来研究临床患者、社区和她的M.P.H.的经验的基础上。它将使她能够通过课程作业、参加研讨会和在一个拥有丰富临床和流行病学研究资源的机构通过项目本身获得遗传流行病学、统计遗传学和遗传学方面的培训。额外的培训和从这项研究职业发展奖中产生的数据将确保她将推进她的学术生涯，成功地竞争独立同行评议的资金，并为理解这一疾病和其他胃肠道疾病做出重大的科学贡献。