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2. 发明申请

US20070265217A1 Single Nucleotide Polymorphisms as Prognostic Tool to Diagnose Adverse Drug Reactions (Adr) and Drug Efficacy 审中-公开
标题翻译：单核苷酸多态性作为诊断不良药物反应（Adr）和药物功效的预后工具
公开(公告)号：US20070265217A1
公开(公告)日：2007-11-15
申请号：US11572039
申请日：2005-07-13
申请人： Udo Stropp , Stephen Schwers , Harald Kallabis
发明人： Udo Stropp , Stephen Schwers , Harald Kallabis
IPC分类号： A61K31/7088 , A61P9/00 , C07H21/04 , C07K2/00 , C12N1/15 , C12N1/19 , C12N15/63 , C12N5/10 , C12P21/00 , C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/106 , C12Q2600/156 , C12Q2600/172
摘要： The invention provides diagnostic methods and kits including oligo and/or polynucleotides or derivatives, including as well antibodies determining whether a human subject is at risk of getting adverse drug reaction after statin therapy or whether the human subject is a high or low responder or a good a or bad metabolizer of statins. The invention provides further diagnostic methods and kits including antibodies determining whether a human subject is at risk for a cardiovascular disease. Still further the invention provides polymorphic sequences and other genes. The present invention further relates to isolated polynucleotides encoding a phenotype associated (PA) gene polypeptide useful in methods to identify therapeutic agents and useful for preparation of a medicament to treat cardiovascular disease or influence drug response, the polynucleotide is selected from the group comprising: SEQ ID 1-131 with allelic variation as indicated in the sequences section contained in a functional surrounding like full length cDNA for PA gene polypeptide and with or without the PA gene promoter sequence. Sequences: The sequence section contains all phenotype associated (‘PA’) SNPs and adjacent genomic sequences. The position of the polymorphisms that were used for the association studies (‘baySNP’) is indicated. Sometimes additional variations are found in the surrounding genomic sequence, that are marked by it's respective IUPAC code. Although those surrounding SNPs were not explicitly analyzed, they likely exhibit a similar association to a phenotype as the baySNP (due to linkage disequilibrium, Reich D. E. et al. Nature 411, 199-204, 2001).
摘要翻译：本发明提供了包括寡核苷酸和/或多核苷酸或衍生物的诊断方法和试剂盒，包括确定人类受试者在他汀类药物治疗后是否有获得不良药物反应风险的抗体，还是人类受试者是高反应者还是低反应者他汀类药物或代谢物。本发明提供了进一步的诊断方法和试剂盒，包括确定人受试者是否处于心血管疾病风险的抗体。本发明还提供了多态序列和其他基因。本发明还涉及编码可用于鉴定治疗剂并用于制备治疗心血管疾病或影响药物应答的药物的方法中的表型相关（PA）基因多肽的分离的多核苷酸，所述多核苷酸选自SEQ ID NO： ID 1-131，其具有等位基因变异，如包含在功能性周围的序列部分中所示，如PA基因多肽的全长cDNA并具有或不具有PA基因启动子序列。序列：序列部分包含所有表型相关（'PA'）SNP和相邻基因组序列。指出用于关联研究（'baySNP'）的多态性的位置。有时在周围的基因组序列中会发现额外的变化，它们由相应的IUPAC代码标记。尽管周围的SNP没有明确分析，但它们可能与baySNP（由于连锁不平衡，Reich D.E.等人，Nature 411,199-204,2001）表现出类似的关联。

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