title: Identification of two novel variants in PRKAG2 gene in Tunisian type 2 diabetic patients with family history of cardiovascular disease.
abstract: We report the identification of two novel polymorphisms in the PRKAG2 gene and preliminary association study between 5'-UTR and exon 1 polymorphisms with susceptibility to type 2 diabetes. No association with type 2 diabetes was identified. However, one of these newly identified polymorphisms (p.Ser20Ile) is likely associated with cardiac disease.
authors.affiliation: Institut Pasteur de Tunis, Tunisia.
authors.forename: S
authors.initials: S
authors.lastname: Nouira
authors.forename: I
authors.initials: I
authors.lastname: Arfa
authors.forename: I
authors.initials: I
authors.lastname: Kammoun
authors.forename: A
authors.initials: A
authors.lastname: Abid
authors.forename: H
authors.initials: H
authors.lastname: Ouragini
authors.forename: I
authors.initials: I
authors.lastname: Dorboz
authors.forename: W
authors.initials: W
authors.lastname: Ghazouani
authors.forename: S Ben
authors.initials: SB
authors.lastname: Fadhel
authors.forename: M M
authors.initials: MM
authors.lastname: Zorgati
authors.forename: S Ben
authors.initials: SB
authors.lastname: Ammar
authors.forename: S
authors.initials: S
authors.lastname: Blousa-Chabchoub
authors.forename: S
authors.initials: S
authors.lastname: Kachboura
authors.forename: S
authors.initials: S
authors.lastname: Abdelhak
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D055372:AMP-Activated Protein Kinases / Q000235:genetics*; D017668:Age of Onset; D000368:Aged; D001483:Base Sequence; D002318:Cardiovascular Diseases / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000235:genetics*; D003925:Diabetic Angiopathies / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D008487:Medical History Taking; D008875:Middle Aged; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D012016:Reference Values; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid; D014416:Tunisia
chemical_list: D020121:5' Untranslated Regions; C526223:PRKAG2 protein, human; D055372:AMP-Activated Protein Kinases