Abstract: The present invention relates to previously unknown disease associations between various genes, loci and biomarkers and essential hypertension. The detection of these biomarkers provides novel in vitro methods and test kits which can be used as an aid when making risk assessment, molecular diagnosis or prognosis of HT or a HT related condition. The disclosed methods and test kits do not require interaction with the body of a subject during the biomarker detection. Instead the methods and test kits are for in vitro use (e.g. in a clinical laboratory) and typically biological samples for the biomarker analyses using a method or a test kit of this invention have been collected earlier in a different place. In addition the biomarkers provide methods and systems for identifying novel agents for preventing, treating and/or reducing risk of HT or a HT related condition. The HT associated genes can be used to develop novel therapies for prevention and/or treatment of essential hypertension.

Abstract: The invention provides a method of identifying subject's susceptibility or predisposition to or risk of developing cardiovascular diseases such as myocardial infarction (MI) or coronary heart disease (CHD) by detecting gene polymorphisms and other gene mutations in a defensin gene from a biological sample of the subject and obtaining information concerning the family and medical history, blood, serum, plasma and urinary analytes of the subject. The invention also provides a multivariate model, a combination or algorithm of variables which best describes the probability of CHD, especially MI. The invention also relates to a test kit and software for accomplishing the method. The present invention also relates to a variant defensin gene.

Abstract: Genes, SNP markers and haplotypes of susceptibility or predisposition to T2D and subdiagnosis of T2D and related medical conditions are disclosed. Methods for diagnosis, prediction of clinical course and efficacy of treatments for T2D, obesity and related phenotypes using polymorphisms in the risk genes are also disclosed. The genes, gene products and agents of the invention are also useful for monitoring the effectiveness of prevention and treatment of T2D and related traits. Kits are also provided for the diagnosis, selecting treatment and assessing prognosis of T2D. Novel methods for prevention and treatment of metabolic diseases such as T2D based on the disclosed T2D genes, polypeptides and related pathways are also disclosed.

Abstract: This invention relates to the therapeutic, diagnostic and pharmacogenetic use of nucleic acids and proteins involved in the regulation of human high density lipoprotein (HDL) and pharmaceutical agents and other therapies affecting this. This invention discloses methods for the treatment and prevention of low HDL states and diseases to prevent cardiovascular diseases such as coronary heart disease (CHD), acute myocardial infarction (AMI), chronic CHD and cerebrovascular stroke and for selecting treatment in a subject and for selecting subjects for studies testing HDL elevating agents, as well as to transgenic animals.

Abstract: This invention is directed to a DNA sequence comprising a nucleotide sequence encoding a variant paraoxonase protein and to said variant paraoxonase protein as well as a method and a kit for detecting a risk of cancer, coronary or cerebrovascular disease, hypertension, type 2 diabetes, dementia, joint arthrosis, cataract, or sensitivity to organophosphorus compounds in a subject, the method comprising isolating genomic DNA from said subject, determining the allelic pattern for the codon 102 of the paraoxonase encoding PON1 gene in the genomic DNA, identification of Ile101Val mutation indicating said risk being increased and for targeting paraoxonase activity modulating therapies. Further this invention relates to transgenic animals comprising a human DNA molecule encoding said variant paraoxonase and to a method of phenotype-targeted gene sequencing.

Abstract: This invention relates to the therapeutic, diagnostic and pharmacogenetic use of nucleic acids and proteins involved in human proteolytical system such as serine and cysteine proteases and their inhibitors and pharmaceutical agents and other therapies affecting these. This invention discloses methods for the treatment and prevention of cardiovascular diseases such as coronary heart disease (CHD), acute myocardial infarction (AMI), chronic CHD, arterial hypertension (HT) and cerebrovascular stroke and metabolic disorders such as the metabolic syndrome (MBO) and obesity and methods for detecting or diagnosing a risk of, or predisposition to the said diseases in a subject, for selecting treatment in a subject and for selecting subjects for studies testing cardiovascular, anti-diabetic and anti-obesity drugs, as well as to transgenic animals.

Abstract: Genes, SNP markers and haplotypes of susceptibility or predisposition to T2D and subdiagnosis of T2D are disclosed. Methods for diagnosis, prediction of clinical course and efficacy of treatments for T2D using polymorphisms in the T2D risk genes are also disclosed. The genes, gene products and agents of the invention are also useful for monitoring the effectiveness of prevention and treatment of T2D. Kits are also provided for the diagnosis, selecting treatment and assessing prognosis of T2D.

Abstract: The present invention provides a method of identifying subject's susceptibility to cardiovascular diseases or risk of developing myocardial infarction (MI) or cerebrovascular stroke by detecting gene polymorphisms and other gene mutations from a biological sample of the subject and optionally obtaining information concerning the family and medical history, blood, serum, plasma and urinary analytes of the subject. The invention also provides a multivariate model, a combination or algorithm of variables which best describes the probability of cardiovascular diseases, especially MI and stroke. The invention also relates to a test kit and software for accomplishing the method.

Abstract: The invention provides a method and kit for detecting or diagnosing a risk of or predisposition to diabetes or a metabolic syndrome in a subject, the method comprising the steps of providing a biological sample of the subject to be tested and detecting the presence or absence of a variant genotype of the human ?2B. adrenoceptor in the biological sample. The presence of the variant genotype indicates an increased risk of diabetes or a metabolic syndrome in said subject. The invention also relates to a method for the treatment of type 2 diabetes.

Abstract: This invention relates to a method for detecting a risk of hypertension and for targeting antihypertensive treatment in a subject, the method comprising isolating genomic DNA from said subject, determining the DNA sequence comprising a nucleotide sequence encoding a variant ?2B-adrenoceptor protein.

Abstract: A role of the human EXT2 gene in metabolic conditions such as T2D is disclosed. Methods and test kits for diagnosis, T2D risk prediction and prediction of clinical course of a metabolic condition using biomarkers related to the EXT2 gene are disclosed. Novel methods for prevention and treatment of metabolic diseases based on EXT2 gene, polypeptides and EXT2 related pathways are also disclosed.

Abstract: This invention is directed to a DNA sequence comprising a nucleotide sequence encoding a variant paraoxonase protein and to said variant paraoxonase protein as well as a method and a kit for detecting a risk of cancer, coronary or cerebrovascular disease, hypertension, type 2 diabetes , dementia, joint arthrosis, cataract, or sensitivity to organophosphorus compounds in a subject, the method comprising isolating genomic DNA from said subject, determining the allelic pattern for the codon 102 of the paraoxonase encoding PON1 gene in the genomic DNA, identification of Ile101Val mutation indicating said risk being increased and for targeting paraoxonase activity modulating therapies. Further this invention relates to transgenic animals comprising a human DNA molecule encoding said variant paraoxonase and to a method of phenotype-targeted gene sequencing.

Abstract: This invention is directed to a DNA sequence comprising a nucleotide sequence encoding a variant paraoxonase protein and to said variant paraoxonase protein as well as a method and a kit for detecting a risk of cancer, coronary or cerebrovascular disease, hypertension, type 2 diabetes, dementia, joint arthrosis, cataract, or sensitivity to organophosphorus compounds in a subject, the method comprising isolating genomic DNA from said subject, determining the allelic pattern for the codon 102 of the paraoxonase encoding PON1 gene in the genomic DNA, identification of Ile101Val mutation indicating said risk being increased and for targeting paraoxonase activity modulating therapies. Further this invention relates to transgenic animals comprising a human DNA molecule encoding said variant paraoxonase and to a method of phenotype-targeted gene sequencing.

Abstract: The present invention is directed to a method and a kit for detecting a risk of cancer and coronary heart disease in a subject, comprising isolating genomic DNA from said subject, determining the allelic pattern for the codon 54 of the paraoxonase encoding PON1 gene in the genomic DNA, identification of M54L mutation indicating said risk being reduced.