公开(公告)号：US20090226904A1

公开(公告)日：2009-09-10

申请号：US12095564

申请日：2006-12-01

申请人： Pål R. Njolstad ,  Helge Raeder ,  Stefan Johansson ,  Pål Ivar Holm ,  Anders Molven

发明人： Pål R. Njolstad ,  Helge Raeder ,  Stefan Johansson ,  Pål Ivar Holm ,  Anders Molven

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6883 ,  C12N9/20 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172

摘要： The present invention relates to association of one or more polymorphisms located in the human CEL gene to the occurrence of exocrine pancreatic dysfunction and a endocrine pancreatic dysfunction in the form of diabetes. The invention relates both to methods for diagnosing a predisposition to said diseases, classifying said diseases and to methods and compositions for treating subjects with said diseases. Furthermore the invention relates to screens for identifying compounds effective in treating said diseases. The invention describes specific single nucleotide polymorphisms the presence of which in the genome of an individual is strongly associated with the predisposition of said individual to exocrine pancreatic dysfunction and diabetes.

摘要翻译： 本发明涉及位于人CEL基因中的一种或多种多态性与外分泌胰腺功能障碍的发生和糖尿病形式的内分泌胰腺功能障碍的关联。 本发明涉及用于诊断所述疾病倾向的方法，对所述疾病进行分类，以及用于治疗患有所述疾病的受试者的方法和组合物。 此外，本发明涉及用于鉴定有效治疗所述疾病的化合物的筛选。 本发明描述了特定的单核苷酸多态性，其在个体的基因组中的存在与所述个体对外分泌胰腺功能障碍和糖尿病的倾向强烈相关。