Genetic Risk contribution to Alcoholic chronic Pancreatitis (GRAP study)

遗传风险对酒精性慢性胰腺炎的影响（GRAP 研究）

• 批准号: 181008647
• 负责人: Professor Dr. Jonas Rosendahl
• 金额: --
• 依托单位: Universitätsklinik und Poliklinik für Innere Medizin I
• 依托单位国家: 德国
• 项目类别: Research Grants
• 财政年份: 2010
• 资助国家: 德国
• 起止时间: 2009-12-31 至 2015-12-31
• 项目状态: 已结题
• 来源: https://gepris.dfg.de/gepris/projekt/181008647?language=en
• 关键词: Genetic; Risk; contribution; Alcoholic; chronic

Chronic pancreatitis (CP) is a progressive inflammatory disease of the pancreas leading to irreversible damage of the organ. Incidence rates are 3.5-10 per 100.000 inhabitants and due to this considerable incidence rate CP is responsible for a rather huge debit for health care and social systems. In the Western world alcohol abuse is the predominant contributor. However, only 5 % of alcoholics develop CP. This fact and familial clustering suggest the presence of genetic susceptibility factors. To evaluate the genetic contributors to alcoholic CP we plan to conduct a genome-wide association study (GWAS) in 2.585 patients with alcoholic CP. The advent of high throughput genome-wide scanning technologies allows a systematic analysis of DNA sequence variations as demonstrated sufficiently by former studies. We established a Pan-European working party on alcoholic CP assembling researchers from all over Europe that collected 2.585 DNA-samples of well phenotyped patients with alcoholic CP. We plan to perform a case-control genome-wide association analysis. Controls arise from established studies and are already genotyped. Genotyping and bioinformatical and biostatistical analysis will be conducted using the infrastructure of the LIFE-center in Leipzig.

慢性胰腺炎（CP）是胰腺的进行性炎症性疾病，导致器官不可逆转。发病率为每100.000居民3.5-10，由于这种相当大的发生率，CP负责医疗保健和社会系统的巨大借方。在西方世界，滥用酒精是主要的贡献者。但是，只有5％的酗酒者发展为CP。这个事实和家族聚类表明存在遗传易感性因素。为了评估酒精CP的遗传因素，我们计划在2.585例酒精CP患者中进行全基因组关联研究（GWAS）。高吞吐量全基因组扫描技术的出现允许对DNA序列变化进行系统分析，如以前的研究所证明的那样。我们建立了一个泛欧的泛欧工作派对，涉及来自欧洲各地的研究人员，收集了2.585个含醇CP的良好表型患者DNA样本。我们计划进行病例对照全基因组的关联分析。对照是由既定的研究产生的，并且已经进行了基因分型。基因分型和生物信息和生物统计分析将使用莱比锡的生活中心基础结构进行。

项目成果

CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?

• DOI: 10.1136/gutjnl-2011-300645
• 发表时间: 2013-04-01
• 期刊: GUT
• 影响因子: 24.5
• 作者: Rosendahl, Jonas;Landt, Olfert;Witt, Heiko
• 通讯作者: Witt, Heiko