본문 바로가기
KERD
논문KCI 등재

Genetics in Diabetes Mellitus - Contribution to the Classification and Management

0

조회

0

다운로드

0

인용

0

참고문헌

키워드

주제분류소아과학

초록

Diabetes mellitus (DM) can be classified as type 1, type 2, and other specific types according to the underlying causes. Other specific types include genetic defects of β-cell function, insulin action, and other genetic syndromes associated with diabetes. Most childhood diabetes has been thought of as type 1 diabetes mellitus (T1DM), but the incidence of type 2 (T2DM) in childhood is rapidly increasing and it can be caused by monogenic defect. In some cases, it might not be easy to determine the type of diabetes and to choose the appropriate treatment. Many susceptible genes to the development of T1DM, T2DM as well as the causative genes of the monogenic diabetes have been identified due to the development of genome-wide association studies,candidate gene analysis and familial linkage studies. Study of the genetic factors in diabetes mellitus is valuable because it enables more appropriate management, and better prediction of disease progression. Therefore, it is important to consider the genetic factors in the management of childhood diabetes.

Abstract

Diabetes mellitus (DM) can be classified as type 1, type 2, and other specific types according to the underlying causes. Other specific types include genetic defects of β-cell function, insulin action, and other genetic syndromes associated with diabetes. Most childhood diabetes has been thought of as type 1 diabetes mellitus (T1DM), but the incidence of type 2 (T2DM) in childhood is rapidly increasing and it can be caused by monogenic defect. In some cases, it might not be easy to determine the type of diabetes and to choose the appropriate treatment. Many susceptible genes to the development of T1DM, T2DM as well as the causative genes of the monogenic diabetes have been identified due to the development of genome-wide association studies,candidate gene analysis and familial linkage studies. Study of the genetic factors in diabetes mellitus is valuable because it enables more appropriate management, and better prediction of disease progression. Therefore, it is important to consider the genetic factors in the management of childhood diabetes.

참고문헌 (63)

  1. Eisenbarth GS, "Type I diabetes mellitus: a chronic autoimmune disease", N Engl J Med, 314, pp.1360~1368 (1986)
  2. Eisenbarth GS, "Banting Lecture 2009: an unfinished journey: molecular pathogenesis to prevention of type 1A diabetes", Diabetes, 59, pp.759~774 (2010)
  3. Zhang L, "Prediction and prevention of type1 diabetes mellitus", J Diabetes, 3, pp.48~57 (2011)
  4. Concannon P, "Genome-wide scan for linkage to type 1 diabetes in 2,496 multiplex families from the type 1 diabetes genetics consortium", Diabetes, 58, pp.1018~1022 (2009)
  5. Barrett JC, "Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes", Nat Genet, 41, pp.703~707 (2009)
  6. Concannon P, "Genetics of type 1A diabetes", N Engl J Med, 360, pp.1646~1654 (2009)
  7. Pociot F, "Genetics of type 1 diabetes: what's next?", Diabetes, 59, pp.1561~1571 (2010)
  8. Todd JA, "Etiology of type 1 diabetes", Immunity, 32, pp.457~467 (2010)
  9. Yu J, "Analysis of children with type 1 diabetes in Korea: high prevalence of specific anti-islet autoantibodies, immunogenetic similarities to Western populations with "unique" haplotypes, and lack of discrimination by aspartic acid at position 57 of DQB", Clin Immunol, 113, pp.318~325 (2004)
  10. Yu J, "Transient antiislet autoantibodies: infrequent occurrence and lack of association with "genetic" risk factors", J Clin Endocrinol Metab, 85, pp.2421~2428 (2000)
  11. Eisenbarth GS, "Autoimmune polyendocrine syndromes", N Engl J Med, 350, pp.2068~2079 (2004)
  12. Perheentupa J, "Autoimmune polyendocrinopathycandidiasis- ectodermal dystrophy", J Clin Endocrinol Metab, 91, pp.2843~2850 (2006)
  13. Bacchetta R, "Defective regulatory and effector T cell functions in patients with FOXP3 mutations", J Clin Invest, 116, pp.1713~1722 (2006)
  14. Rao A, "Successful bone marrow transplantation for IPEX syndrome after reduced- intensity conditioning", Blood, 109, pp.383~385 (2007)
  15. LeRoith D, "Beta-cell dysfunction and insulin resistance in type 2 diabetes: role of metabolic and genetic abnormalities", Am J Med, 113(6A), pp.3S~11S (2002)
  16. Barroso I, "Genetics of type 2 diabetes", Diabet Med, 22, pp.517~535 (2005)
  17. Prokopenko I, "Type 2 diabetes: new genes, new understanding", Trends Genet, 24, pp.613~621 (2008)
  18. Schäfer SA, "New type 2 diabetes risk genes provide new insights in insulin secretion mechanisms", Diabetes Res Clin Pract, 93(1), pp.S9~S24 (2011)
  19. Kota SK, "Genetics of type 2 diabetes mellitus and other specific types of diabetes; its role in treatment modalities", Diabetes Metab Syndr, 6, pp.54~58 (2012)
  20. 박경수, "Sulwon Lecture 2009: The Search for Genetic Risk Factors of Type 2 Diabetes Mellitus", Diabetes and Metabolism Journal, 35(1), pp.12~22 (2011), 대한당뇨병학회
  21. Yu J, "Single nucleotide transcription factor 7-like 2 (TCF7L2) gene polymorphisms in antiislet autoantibody-negative patients at onset of diabetes", J Clin Endocrinol Metab, 94, pp.504~510 (2009)
  22. Wang J, "Prevalence of autoantibody-negative diabetes is not rare at all ages and increases with older age and obesity", J Clin Endocrinol Metab, 92, pp.88~92 (2007)
  23. Dabelea D, "Etiological approach to characterization of diabetes type: the SEARCH for Diabetes in Youth Study", Diabetes Care, 34, pp.1628~1633 (2011)
  24. Rubio-Cabezas O, "Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes", Diabet Med, 26, pp.1070~1074 (2009)
  25. Hameed S, "Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children", Pediatr Diabetes, 12, pp.142~149 (2011)
  26. Murphy R, "Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes", Nat Clin Pract Endocrinol Metab, 4, pp.200~213 (2008)
  27. Tattersall RB, "A difference between the inheritance of classical juvenile-onset and maturity-onset type diabetes of young people", Diabetes, 24, pp.44~53 (1975)
  28. Stride A, "Different genes, different diabetes: lessons from maturity-onset diabetes of the young", Ann Med, 34, pp.207~216 (2002)
  29. Froguel P, "Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus", Nature, 356, pp.162~164 (1992)
  30. Vionnet N, "Nonsense mutation in the glucokinase gene causes early-onset noninsulin-dependent diabetes mellitus", Nature, 356, pp.721~722 (1992)
  31. Fajans SS, "Maturity-onset diabetes of the young", Life Sciences, 55, pp.413~422 (1994)
  32. Jonsson J, "Insulinpromoter factor 1 is required for pancreas development in mice", Nature, 371, pp.606~609 (1994)
  33. Yamagata K, "Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)", Nature, 384, pp.458~460 (1996)
  34. Yamagata K, "Mutations in the hepatocyte nuclear factor-1 gene in maturity-onset diabetes of the young (MODY3)", Nature, 384, pp.455~458 (1996)
  35. Stoffers DA, "Early-onset type-II diabetes mellitus (MODY4) linked to IPF1", Nat Genet, 17, pp.138~139 (1997)
  36. Horikawa Y, "Cockburn BN, et al. Mutation in hepatocyte nuclear factor-1β gene (TCF2) associated with MODY", Nat Genet, 17, pp.384~385 (1997)
  37. Malecki MT, "Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus", Nat Genet, 23, pp.323~328 (1999)
  38. Fajans SS, "Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young", N Engl J Med, 345, pp.971~980 (2001)
  39. Timsit J, "Diagnosis and management of maturity-onset diabetes of the young", Treat Endocrinol, 4, pp.9~18 (2005)
  40. Neve B, "Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function", Proc Natl Acad Sci U S A, 102, pp.4807~4812 (2005)
  41. Malecki MT, "Monogenic diabetes: implications for therapy of rare types of disease", Diabetes Obes Metab, 10, pp.607~616 (2008)
  42. Fernandez-Zapico ME, "MODY7 gene, KLF11, is a novel p300-dependent regulator of Pdx-1 (MODY4) transcription in pancreatic islet beta cells", J Biol Chem, 284, pp.36482~36490 (2009)
  43. Boesgaard TW, "Further evidence that mutations in INS can be a rare cause of Maturity- Onset Diabetes of the Young (MODY)", BMC Med Genet, 11, pp.42~ (2010)
  44. Polak M, "Neonatal and very-early-onset diabetes mellitus", Semin Neonatol, 9, pp.59~65 (2004)
  45. Polak M, "Neonatal diabetes mellitus: a disease linked to multiple mechanisms", Orphanet J Rare Dis, 2, pp.12~ (2007)
  46. Shield JP, "Neonatal diabetes", Horm Res, 68(5), pp.32~36 (2007)
  47. Støy J, "Diagnosis and treatment of neonatal diabetes: a United States experience", Pediatr Diabetes, 9, pp.450~459 (2008)
  48. Njolstad PR, "Neonatal diabetes mellitus due to complete glucokinase deficiency", N Engl J Med, 344, pp.1588~1592 (2001)
  49. Babenko AP, "Activating mutations in the ABCC8 gene in neonatal diabetes mellitus", N Engl J Med, 355, pp.456~466 (2006)
  50. Senée V, "Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism", Nat Genet, 38, pp.682~687 (2006)
  51. Støy J, "Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene", Rev Endocr Metab Disord, 11, pp.205~215 (2010)
  52. Dimitri P, "Novel GLIS3 mutations demonstrate an extended multisystem phenotype", Eur J Endocrinol, 164, pp.437~443 (2011)
  53. Pinney SE, "Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence", J Clin Endocrinol Metab, 96, pp.1960~1965 (2011)
  54. Rigoli L, "Wolfram syndrome 1 and Wolfram syndrome 2", Curr Opin Pediatr, 24, pp.512~517 (2012)
  55. Garg A, "A gene for congenital generalized lipodystrophy maps to human chromosome 9q34", J Clin Endocrinol Metab, 84, pp.3390~3394 (1999)
  56. Magre J, "Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13", Nat Genet, 28, pp.365~370 (2001)
  57. Agarwal AK, "AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34", Nat Genet, 31, pp.21~23 (2002)
  58. Longo N, "Genotype-phenotype correlation in inherited severe insulin resistance", Hum Mol Genet, 11, pp.1465~1475 (2002)
  59. Agarwal AK, "Genetic basis of lipodystrophies and management of metabolic complications", Annu Rev Med, 57, pp.297~311 (2006)
  60. Rojek A, "Insulin receptor defect as a cause of Rabson-Mendenhall syndrome and other rare genetic insulin resistance syndromes", Pediatr Endocrinol Diabetes Metab, 16, pp.205~212 (2010)
  61. Maassen JA, "Mitochondrial diabetes: pathophysiology, clinical presentation, and genetic analysis", Am J Med Genet, 115, pp.66~70 (2002)
  62. Delépine M, "EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott- Rallison syndrome", Nat Genet, 25, pp.406~409 (2000)
  63. Julier C, "Wolcott-Rallison syndrome", Orphanet J Rare Dis, 5, pp.29~ (2010)

관련 논문AI추천

이 간행물의 다른 논문 (9건)