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 polymorphis...
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| Veröffentlicht in: | Diabetes research and clinical practice 2010-02, Vol.87 (2), p.e7-e10 |
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| container_title | Diabetes research and clinical practice |
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| creator | Nouira, S Arfa, I Kammoun, I Abid, A Ouragini, H Dorboz, I Ghazouani, W Fadhel, S. Ben Zorgati, M.M Ammar, S. Ben Blousa-Chabchoub, S Kachboura, S Abdelhak, S |
| description | 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. |
| doi_str_mv | 10.1016/j.diabres.2009.11.009 |
| format | Article |
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Ben ; Zorgati, M.M ; Ammar, S. Ben ; Blousa-Chabchoub, S ; Kachboura, S ; Abdelhak, S</creator><creatorcontrib>Nouira, S ; Arfa, I ; Kammoun, I ; Abid, A ; Ouragini, H ; Dorboz, I ; Ghazouani, W ; Fadhel, S. Ben ; Zorgati, M.M ; Ammar, S. Ben ; Blousa-Chabchoub, S ; Kachboura, S ; Abdelhak, S</creatorcontrib><description>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.</description><identifier>ISSN: 0168-8227</identifier><identifier>EISSN: 1872-8227</identifier><identifier>DOI: 10.1016/j.diabres.2009.11.009</identifier><identifier>PMID: 20022652</identifier><language>eng</language><publisher>Ireland: Elsevier Ireland Ltd</publisher><subject>5' Untranslated Regions ; 5' Untranslated Regions - genetics ; 5′-AMP-activated protein kinase (AMPK) ; Age of Onset ; Aged ; AMP-Activated Protein Kinases ; AMP-Activated Protein Kinases - genetics ; Base Sequence ; Cardiac failure ; Cardiovascular Diseases ; Cardiovascular Diseases - genetics ; Diabetes Mellitus, Type 2 ; Diabetes Mellitus, Type 2 - complications ; Diabetes Mellitus, Type 2 - genetics ; Diabetic Angiopathies ; Diabetic Angiopathies - genetics ; Endocrinology & Metabolism ; Exons ; Exons - genetics ; Genetic Variation ; Humans ; Medical History Taking ; Middle Aged ; Molecular Sequence Data ; Polymorphism, Single Nucleotide ; Reference Values ; Sequence Alignment ; Sequence Homology, Nucleic Acid ; SNP ; Tunisia ; Type 2 diabetes</subject><ispartof>Diabetes research and clinical practice, 2010-02, Vol.87 (2), p.e7-e10</ispartof><rights>2009</rights><rights>2009. 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Ben</creatorcontrib><creatorcontrib>Zorgati, M.M</creatorcontrib><creatorcontrib>Ammar, S. Ben</creatorcontrib><creatorcontrib>Blousa-Chabchoub, S</creatorcontrib><creatorcontrib>Kachboura, S</creatorcontrib><creatorcontrib>Abdelhak, S</creatorcontrib><title>Identification of two novel variants in PRKAG2 gene in Tunisian type 2 diabetic patients with family history of cardiovascular disease</title><title>Diabetes research and clinical practice</title><addtitle>Diabetes Res Clin Pract</addtitle><description>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.</description><subject>5' Untranslated Regions</subject><subject>5' Untranslated Regions - genetics</subject><subject>5′-AMP-activated protein kinase (AMPK)</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>AMP-Activated Protein Kinases</subject><subject>AMP-Activated Protein Kinases - genetics</subject><subject>Base Sequence</subject><subject>Cardiac failure</subject><subject>Cardiovascular Diseases</subject><subject>Cardiovascular Diseases - genetics</subject><subject>Diabetes Mellitus, Type 2</subject><subject>Diabetes Mellitus, Type 2 - complications</subject><subject>Diabetes Mellitus, Type 2 - genetics</subject><subject>Diabetic Angiopathies</subject><subject>Diabetic Angiopathies - genetics</subject><subject>Endocrinology & Metabolism</subject><subject>Exons</subject><subject>Exons - genetics</subject><subject>Genetic Variation</subject><subject>Humans</subject><subject>Medical History Taking</subject><subject>Middle Aged</subject><subject>Molecular Sequence Data</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Reference Values</subject><subject>Sequence Alignment</subject><subject>Sequence Homology, Nucleic Acid</subject><subject>SNP</subject><subject>Tunisia</subject><subject>Type 2 diabetes</subject><issn>0168-8227</issn><issn>1872-8227</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFUstu1DAUtRCIDoVPAHnHKqkfiTPZgEYVtBUjgaBI7CzHvmE8ZOLUdlLlB_hunM7QBRtW15bPwzrnIvSakpwSKi72ubGq8RByRkidU5qn8QSt6Lpi2Zqx6ilaJdz64XyGXoSwJ4QIXpTP0VmiMCZKtkK_bwz00bZWq2hdj12L473DvZugw5PyVvUxYNvjL18_ba4Y_gk9LNfbsbchPeI4D4AZXj4D0Wo8JB1YOPc27nCrDrab8c6G6Py8qGvljXWTCnrslE-8ACrAS_SsVV2AV6d5jr5__HB7eZ1tP1_dXG62meYVi5kQGkA0ohJcc1U2RWsMb2tDKk5VTRooWFVRQqACVgpTiLqghpTKtKxu2rLg5yg76u5UJwdvD8rP0ikrrzdbOagQYfQyxcSSiJhowr894gfv7kYIUR5s0NB1qgc3BllxXhNRigVZHpHauxA8tI_ylMilMbmXp8bk0pikNBnViffm5DA2BzCPrL8VJcD7IwBSLpMFL4NOCWsw1oOO0jj7X4t3_yjozvap8e4XzBD2bvR9Cl1SGZgk8tuyNsvWkJqQYk1-8D9BEL_f</recordid><startdate>201002</startdate><enddate>201002</enddate><creator>Nouira, S</creator><creator>Arfa, I</creator><creator>Kammoun, I</creator><creator>Abid, A</creator><creator>Ouragini, H</creator><creator>Dorboz, I</creator><creator>Ghazouani, W</creator><creator>Fadhel, S. 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| ispartof | Diabetes research and clinical practice, 2010-02, Vol.87 (2), p.e7-e10 |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | 5' Untranslated Regions 5' Untranslated Regions - genetics 5′-AMP-activated protein kinase (AMPK) Age of Onset Aged AMP-Activated Protein Kinases AMP-Activated Protein Kinases - genetics Base Sequence Cardiac failure Cardiovascular Diseases Cardiovascular Diseases - genetics Diabetes Mellitus, Type 2 Diabetes Mellitus, Type 2 - complications Diabetes Mellitus, Type 2 - genetics Diabetic Angiopathies Diabetic Angiopathies - genetics Endocrinology & Metabolism Exons Exons - genetics Genetic Variation Humans Medical History Taking Middle Aged Molecular Sequence Data Polymorphism, Single Nucleotide Reference Values Sequence Alignment Sequence Homology, Nucleic Acid SNP Tunisia Type 2 diabetes |
| title | Identification of two novel variants in PRKAG2 gene in Tunisian type 2 diabetic patients with family history of cardiovascular disease |
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