Vhl promoter diagnostic polymorphism

C - Chemistry – Metallurgy – 12 – Q

Patent

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Details

C12Q 1/68 (2006.01) C07H 21/02 (2006.01)

Patent

CA 2418094

Disclosed is a single nucleotide polymorphism (SNP) associated with colon cancer, hypertension, atherosclerotic peripheral vascular disease due to hypertension, cerebrovascular accident due to hypertension, cataracts due to hypertension, hypertensive cardiomyopathy, myocardial infarction due to hypertension, end stage renal disease due to hypertension, non-insulin dependent diabetes mellitus, atherosclerotic peripheral vascular disease due to non-insulin dependent diabetes mellitus, cerebrovascular accident due to non-insulin dependent diabetes mellitus, ischemic cardiomyopathy, ischemic cardiomyopathy with non-insulin dependent diabetes mellitus, myocardial infarction due to non-insulin dependent diabetes mellitus, atrial fibrillation without valvular disease, alcohol abuse, alcoholic cirrhosis, anxiety, asthma, chronic obstructive pulmonary disease, cholecystectomy, degenerative joint disease, end stage renal disease and frequent de-clots, end stage renal disease due to focal segmental glomerular sclerosis, end stage renal disease due to insulin dependent diabetes mellitus, end stage renal disease due to non- insulin dependent diabetes mellitus, and seizure disorder. Also disclosed are methods for using the SNP to determine susceptibility to these diseases; nucleotide sequences containing the SNP; kits for determining the presence of the SNP; and methods of treatment or prophylaxis based on the presence of the SNP.

L'invention concerne un polymorphisme de nucléotide simple (SNP) associé aux états pathologiques et troubles suivants : cancer du colon, hypertension, maladie vasculaire périphérique athéroscléreuse due à l'hypertension, accident vasculaire cérébral dû à l'hypertension, cataractes dues à l'hypertension, cardiomyopathie hypertensive, infarctus du myocarde dû à l'hypertension, insuffisance rénale terminale due à l'hypertension, diabète non insulino-dépendant, maladie vasculaire périphérique athéroscléreuse due au diabète non insulino-dépendant, accident vasculaire cérébral dû au diabète non insulino-dépendant, cardiomyopathie ischémique, cardiomyopathie ischémique avec diabète non insulino-dépendant, infarctus du myocarde dû au diabète non insulino-dépendant, fibrillation auriculaire sans affection valvulaire, abus d'alcool, cirrhose alcoolique, anxiété, asthme, bronchopneumopathie chronique obstructive, cholécystectomie, pathologie articulaire dégénérative, insuffisance rénale terminale et décaillotages fréquents, insuffisance rénale terminale due à la sclérose glomérulaire segmentaire et focale, insuffisance rénale terminale due au diabète insulino-dépendant, insuffisance rénale terminale due au diabète non insulino-dépendant et trouble épileptique. L'invention concerne également des méthodes faisant appel au SNP pour déterminer la susceptibilité à ces maladies, des séquences nucléotidiques contenant le SNP, des kits permettant de déterminer la présence du SNP et des méthodes de traitement ou de prophylaxie reposant sur la présence du SNP.

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