Type 2 diabetes mellitus;
MODY;
Genetics;
Peroxisome proliferator-activated receptor-gamma gene;
D O I:
10.1016/j.dsx.2012.05.014
中图分类号:
R5 [内科学];
学科分类号:
1002 ;
100201 ;
摘要:
Type 2 diabetes mellitus (T2DM) is among the most challenging health issues of the 21st century and is associated with an alarming rise in the incidence. The pathophysiological processes that lead to development of T2DM are still unclear, however impairment in insulin secretion and/or action is clearly indicated. Type 2 diabetes is a polygenic disorder with multiple genes located on different chromosomes contributing to its susceptibility. Analysis of the genetic factors is further complicated by the fact that numerous environmental factors interact with genes to produce the disorder. Only a minority of cases of type 2 diabetes are caused by single gene defects and one example is maturity onset diabetes of the young (MODY). Previous studies indicated that variants in genes encoding the pancreatic beta-cell K+ ATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) are associated with neonatal diabetes. Six different types of maturity onset diabetes of young (MODY) have been identified based on characteristic gene defect. The common Pro12Ala polymorphism in peroxisome proliferator-activated receptor-gamma (PPAR-gamma) gene was confirmed in several studies to be associated with type 2 diabetes as well. More recently, studies reported variants within a novel gene, TCF7L2, as a putative susceptibility gene for type 2 diabetes across many ethnic backgrounds around the world. MODY patients respond better to sulphonylureas and metformin, while neonatal diabetes patients with genetic mutations can be changed from insulin to oral drugs. We hereby provide a comprehensive review on the role of genetics in type 2 diabetes mellitus. (C) 2012 Diabetes India. Published by Elsevier Ltd. All rights reserved.
机构:
Madras Diabet Res Fdn, ICMR Adv Ctr Genom Type 2 Diabet & Dr Mohans Diab, WHO Collaborating Ctr Non Communicable Dis Preven, IDF Ctr Educ, Chennai 600086, Tamil Nadu, IndiaMadras Diabet Res Fdn, ICMR Adv Ctr Genom Type 2 Diabet & Dr Mohans Diab, WHO Collaborating Ctr Non Communicable Dis Preven, IDF Ctr Educ, Chennai 600086, Tamil Nadu, India
Anuradha, S.
Radha, V.
论文数: 0引用数: 0
h-index: 0
机构:
Madras Diabet Res Fdn, ICMR Adv Ctr Genom Type 2 Diabet & Dr Mohans Diab, WHO Collaborating Ctr Non Communicable Dis Preven, IDF Ctr Educ, Chennai 600086, Tamil Nadu, IndiaMadras Diabet Res Fdn, ICMR Adv Ctr Genom Type 2 Diabet & Dr Mohans Diab, WHO Collaborating Ctr Non Communicable Dis Preven, IDF Ctr Educ, Chennai 600086, Tamil Nadu, India
Radha, V.
Mohan, V.
论文数: 0引用数: 0
h-index: 0
机构:
Madras Diabet Res Fdn, ICMR Adv Ctr Genom Type 2 Diabet & Dr Mohans Diab, WHO Collaborating Ctr Non Communicable Dis Preven, IDF Ctr Educ, Chennai 600086, Tamil Nadu, IndiaMadras Diabet Res Fdn, ICMR Adv Ctr Genom Type 2 Diabet & Dr Mohans Diab, WHO Collaborating Ctr Non Communicable Dis Preven, IDF Ctr Educ, Chennai 600086, Tamil Nadu, India
机构:
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Barrett, Jeffrey C.
Clayton, David G.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Clayton, David G.
论文数: 引用数:
h-index:
机构:
Concannon, Patrick
Akolkar, Beena
论文数: 0引用数: 0
h-index: 0
机构:
NIDDK, Div Diabet Endocrinol & Metab Dis, NIH, Bethesda, MD USAUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Akolkar, Beena
Cooper, Jason D.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Cooper, Jason D.
Erlich, Henry A.
论文数: 0引用数: 0
h-index: 0
机构:
Roche Mol Syst, Pleasanton, CA USAUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Erlich, Henry A.
Julier, Cecile
论文数: 0引用数: 0
h-index: 0
机构:
INSERM, U958, Ctr Natl Genotypage, Evry, FranceUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Julier, Cecile
Morahan, Grant
论文数: 0引用数: 0
h-index: 0
机构:
Western Australia Inst Med Res, Ctr Diabet Res, Perth, WA, Australia
Univ Western Australia, Med Res Ctr, Perth, WA 6009, AustraliaUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Morahan, Grant
Nerup, Jorn
论文数: 0引用数: 0
h-index: 0
机构:
Steno Diabet Ctr, DK-2820 Gentofte, Denmark
Hagedorn Res Inst, Gentofte, DenmarkUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Nerup, Jorn
Nierras, Concepcion
论文数: 0引用数: 0
h-index: 0
机构:
Juvenile Diabet Res Fdn, New York, NY USAUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Nierras, Concepcion
Plagnol, Vincent
论文数: 0引用数: 0
h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Plagnol, Vincent
Pociot, Flemming
论文数: 0引用数: 0
h-index: 0
机构:
Steno Diabet Ctr, DK-2820 Gentofte, Denmark
Hagedorn Res Inst, Gentofte, DenmarkUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Pociot, Flemming
论文数: 引用数:
h-index:
机构:
Schuilenburg, Helen
Smyth, Deborah J.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Smyth, Deborah J.
Stevens, Helen
论文数: 0引用数: 0
h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Stevens, Helen
Todd, John A.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Todd, John A.
Walker, Neil M.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Walker, Neil M.
Rich, Stephen S.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Virginia, Ctr Publ Hlth Genom, Charlottesville, VA USA
Univ Virginia, Dept Publ Hlth Sci, Div Biostat & Epidemiol, Charlottesville, VA USAUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
机构:
Madras Diabet Res Fdn, ICMR Adv Ctr Genom Type 2 Diabet & Dr Mohans Diab, WHO Collaborating Ctr Non Communicable Dis Preven, IDF Ctr Educ, Chennai 600086, Tamil Nadu, IndiaMadras Diabet Res Fdn, ICMR Adv Ctr Genom Type 2 Diabet & Dr Mohans Diab, WHO Collaborating Ctr Non Communicable Dis Preven, IDF Ctr Educ, Chennai 600086, Tamil Nadu, India
Anuradha, S.
Radha, V.
论文数: 0引用数: 0
h-index: 0
机构:
Madras Diabet Res Fdn, ICMR Adv Ctr Genom Type 2 Diabet & Dr Mohans Diab, WHO Collaborating Ctr Non Communicable Dis Preven, IDF Ctr Educ, Chennai 600086, Tamil Nadu, IndiaMadras Diabet Res Fdn, ICMR Adv Ctr Genom Type 2 Diabet & Dr Mohans Diab, WHO Collaborating Ctr Non Communicable Dis Preven, IDF Ctr Educ, Chennai 600086, Tamil Nadu, India
Radha, V.
Mohan, V.
论文数: 0引用数: 0
h-index: 0
机构:
Madras Diabet Res Fdn, ICMR Adv Ctr Genom Type 2 Diabet & Dr Mohans Diab, WHO Collaborating Ctr Non Communicable Dis Preven, IDF Ctr Educ, Chennai 600086, Tamil Nadu, IndiaMadras Diabet Res Fdn, ICMR Adv Ctr Genom Type 2 Diabet & Dr Mohans Diab, WHO Collaborating Ctr Non Communicable Dis Preven, IDF Ctr Educ, Chennai 600086, Tamil Nadu, India
机构:
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Barrett, Jeffrey C.
Clayton, David G.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Clayton, David G.
论文数: 引用数:
h-index:
机构:
Concannon, Patrick
Akolkar, Beena
论文数: 0引用数: 0
h-index: 0
机构:
NIDDK, Div Diabet Endocrinol & Metab Dis, NIH, Bethesda, MD USAUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Akolkar, Beena
Cooper, Jason D.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Cooper, Jason D.
Erlich, Henry A.
论文数: 0引用数: 0
h-index: 0
机构:
Roche Mol Syst, Pleasanton, CA USAUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Erlich, Henry A.
Julier, Cecile
论文数: 0引用数: 0
h-index: 0
机构:
INSERM, U958, Ctr Natl Genotypage, Evry, FranceUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Julier, Cecile
Morahan, Grant
论文数: 0引用数: 0
h-index: 0
机构:
Western Australia Inst Med Res, Ctr Diabet Res, Perth, WA, Australia
Univ Western Australia, Med Res Ctr, Perth, WA 6009, AustraliaUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Morahan, Grant
Nerup, Jorn
论文数: 0引用数: 0
h-index: 0
机构:
Steno Diabet Ctr, DK-2820 Gentofte, Denmark
Hagedorn Res Inst, Gentofte, DenmarkUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Nerup, Jorn
Nierras, Concepcion
论文数: 0引用数: 0
h-index: 0
机构:
Juvenile Diabet Res Fdn, New York, NY USAUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Nierras, Concepcion
Plagnol, Vincent
论文数: 0引用数: 0
h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Plagnol, Vincent
Pociot, Flemming
论文数: 0引用数: 0
h-index: 0
机构:
Steno Diabet Ctr, DK-2820 Gentofte, Denmark
Hagedorn Res Inst, Gentofte, DenmarkUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Pociot, Flemming
论文数: 引用数:
h-index:
机构:
Schuilenburg, Helen
Smyth, Deborah J.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Smyth, Deborah J.
Stevens, Helen
论文数: 0引用数: 0
h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Stevens, Helen
Todd, John A.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Todd, John A.
Walker, Neil M.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res,Juvenile Diabet Res Fdn, Dept Med Genet,Wellcom Trust Diabet & Inflammat L, Cambridge CB2 2QQ, EnglandUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA
Walker, Neil M.
Rich, Stephen S.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Virginia, Ctr Publ Hlth Genom, Charlottesville, VA USA
Univ Virginia, Dept Publ Hlth Sci, Div Biostat & Epidemiol, Charlottesville, VA USAUniv Virginia, Dept Biochem & Mol Genet, Charlottesville, VA 22903 USA