Abstract: This invention relates to polymorphisms in the human pyruvate dehydrogenase complex E2 (PDH E2 or PDC E2) gene and corresponding novel allelic polypeptides encoded thereby. The invention also relates to methods and materials for analysing allelic variation in the PDH E2 gene, and to the use of PDH E2 polymorphism in the diagnosis and treatment of. diseases in which modulation of pyruvate dehydrogenase activity could be of therapeutic benefit, such as diabetes, asthma, obesity, sepsis and peripheral vascular disease. In particular, the invention is based on the discovery of two single nucleotide polymorphisms (SNPs) in the coding region of the human PDH E2 gene.

Abstract: This invention relates to polymorphisms in the human pyruvate dehydrogenase E1&bgr; (PDH E1&bgr;) gene. The invention also relates to methods and materials for analysing allelic variation in the PDH E1&bgr; gene, and to the use of PDH E1&bgr; polymorphism in the diagnosis and treatment of diseases in which modulation of pyruvate dehydrogenase activity could be of therapeutic benefit, such as diabetes, asthma, obesity, sepsis and peripheral vascular disease. In particular, the invention is based on the discovery of a single nucleotide polymorphism in the coding region of the human PDH E1&bgr; gene, and three single nucleotide polymorphisms in the 3′ untranslated region (3′UTR) of the human PDH E1&bgr; gene.

Abstract: This invention relates to polymorphisms in the human prostaglandin E2 receptor 1 (EP1-R) gene and corresponding novel allelic polypeptides encoded thereby. Fourteen specific polymorphisms are identified. The invention also relates to methods and materials for analysing allelic variation in the EP1-R gene and to the use of said polymorphism in the diagnosis and treatment of EP1-R ligand mediated diseases, such as cancer or arthritis.