Diabetes: From phenotypes to genotypes

Diabetes and Metabolism

Volumn 23, Issue SUPPL. 2, 1997, Pages 14-21

  Guillausseau, P J ^a,b   Tielmans, D ^a,b   Virally Monod, M ^a,b   Assayag, M ^a,b  

^a HÔPITAL LARIBOISIÈRE   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

diabetes; familial studies; gene; genetics; glucokinase; insulin dependent diabetes; mitochondrial cytopathy; non insulin dependent diabetes

Indexed keywords

BETA ADRENERGIC RECEPTOR; DNA;

CONFERENCE PAPER; ENZYME ACTIVITY; GENOTYPE; GLUCOSE INTOLERANCE; HEREDITY; HUMAN; HYPERGLYCEMIA; INSULIN DEPENDENT DIABETES MELLITUS; MOLECULAR GENETICS; NON INSULIN DEPENDENT DIABETES MELLITUS; PHENOTYPE;

AGE OF ONSET; DIABETES MELLITUS, TYPE 1; DIABETES MELLITUS, TYPE 2; ENVIRONMENTAL HEALTH; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; PHENOTYPE; RISK FACTORS;

EID: 0030978607     PISSN: 03381684     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (93)

1. World Health Organization Study Group. Prevention of diabetes mellitus. Technical Report Series no 844, WHO ed. (Geneva) 1994 : 11-18.
2. Barnett AH, Eff C, Leslie RDG et al. Diabetes in identical twins. A study of 200 pairs. Diabetologia, 1981, 20, 87-93.
3. Köbberling J. Studies on the genetic heterogeneity of diabetes mellitus. Diabetologia, 1971, 7, 46-49.
4. Committee on diabetic twins, Japan Diabetes Society. Diabetes Mellitus in twins : a cooperative study in Japan. Diabetes Res Clin Pract, 1988, 5, 271-280.
5. Newman B, Selby JV, King MC et al. Concordance for type 2 (non-insulin-dependent) diabetes mellitus in male twins. Diabetologia, 1987, 30, 763-768.
6. Kaprio J, Tuomilheto J, Koskenvuo M et al. Concordance for type 1 (insulin-dependent) and type 2 (non-insulin-dependent) diabetes mellitus in a population-based cohort of twins in Finland. Diabetologia, 1992, 35, 1060-1067.
7. Phillips DW. Twin studies in medical research : can they tell us whether diseases are genetically determined? Lancet, 1993, 341, 1008-1009.
8. Plate P, Jakobsen BK, Morling N et al. HLA-D and HLA-DR antigens in genetic analysis of insulin-dependent diabetes mellitus. Diabetologia, 1981, 21, 1108-1115.
9. Bell GI, Horita S, Karam JH. A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes, 1984, 35, 176-183.
10. 3) produces susceptibility to insulin-dependent diabetes mellitus. Nature Genet, 1994, 8, 189-194.
11. Davies JL, Kawaguchi Y, Bennett ST et al. A genome-wide search for human type 1 diabetes susceptibility genes. Nature, 1994, 371, 130-136.
12. 8) on chromosome 6q25-27. Am J Hum Genet, 1995, 57, 911-919.
13. 7) to chromosome 2q31-q33. Nature Genet, 1995, 9, 80-85.
14. Todd JA, Bell JI, McDevitt HO. HLA DQ β-gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus. Nature, 1987, 329, 599-604.
15. Bodansky HJ, Staines A, Stephenson C et al. Evidence for an environmental effect in the aetiology of insulin-dependent diabetes in a transmigratory population. Br Med J, 1992, 304, 1020-1022.
16. Elliott RB. Epidemiology of diabetes in Polynesia and New Zealand. Pediatr Adolesc Endocrinol, 1992, 21, 66-71.
17. Kumar D, Gemayel NS, Deapen D et al. North-American twins with IDDM : genetic, etiological, and clinical significance of disease concordance according to age, zygosity, and the interval after diagnosis in first twin. Diabetes, 1993, 42, 1351-1363.
18. *0302 haplotype at clinical onset of type 1 (insulin-dependent) diabetes mellitus before age 10 years, but not at onset between age 10 and 40 years. Diabetologia, 1993, 36, 1155-1162.
19. Groop L, Miettinen A, Groop PH et al. Organ-specific autoimmunity and HLA-DR antigens as markers for β-cell destruction in patients with type II diabetes. Diabetes, 1988, 37, 99-103.
20. Tuomi T, Groop LC, Zimmet PZ et al. Antibodies to glutamic acid decarboxylase reveal latent autoimmune diabetes mellitus in adults with a non-insulin-dependent onset of diabetes. Diabetes, 1993, 42, 359-362.
21. Bosi E, Becker F, Fonifacio E et al. Progression to type I diabetes in autoimmune endocrine patients with islet cell antibodies. Diabetes, 1991, 40, 977-984.
22. Winter WE, MacLaren NK, Riley WJ et al. Maturity-onset diabetes of youth in Black Americans. N Engl J Med, 1987, 316, 285-291.
23. Umpierrez GE, Casals MMC, Gebhart SPP et al. Diabetic ketoacidosis in obese african-americans. Diabetes, 1995, 44, 790-795.
24. Rich SS, French LR, Sprafka JM et al. HLA-associated susceptibility to type 2 (non-insulin-dependent) diabetes mellitus : the Wadena City Health Study. Diabetologia, 1993, 36, 234-238.
25. DeFronzo R, Bonadonna RC, Ferrannini E. Pathogenesis of NIDDM. A balanced overview. Diabetes Care, 1992, 15, 318-368.
26. Rushforth NB, Bennett PH, Steinberg AG et al. Diabetes in the Pima Indians : evidence of bimodality in glucose tolerance distributions. Diabetes, 1971, 20, 756-765.
27. Hanson RL, Elston RC, Pettitt DJ et al. Segregation analysis of non-insulin dependent diabetes mellitus in Pima Indians : evidence for a major gene effect. Am J Hum Genet, 1995, 57, 160-170.
28. Serjeantson S, Zimmet P. Diabetes in the Pacific : evidence for a major gene. In : Diabetes Mellitus, Recent Knowledge on Etiology, Complications and Treatment. Baba S, Gould MK, Zimmet P, Eds. Sydney. Australia, Academic Press, 1994, p. 23-30.
29. Elston RC, Namboodiri RR, Nino MV et al. Studies on blood and urine glucose in Seminole Indians : indications for segregation of a major gene. Am J Hum Genet, 1974, 26, 13-34.
30. Stern MP, Mitchell BD, Blangero J et al. Evidence for a major gene in type II diabetes and linkage analyses with selected candidate genes in Mexican-Americans. Diabetes, 1996, 45, 563-568.
31. Hales CN, Barker DJP. Type 2 (non-insulin-dependent) diabetes mellitus : the thrifty phenotype hypothesis. Diabetologia, 1992, 35, 595-601.
32. Neel JV. Diabetes mellitus : a "thrifty" genotype rendered detrimental by "progress". Am J Hum Genet, 1962, 14, 353-362.
33. Wendorf M, Goldfine ID. Archeology of NIDDM. Excavation of the "thrifty" genotype. Diabetes, 1991, 40, 161-165.
34. Delluc G, Delluc B, Roques M. La nutrition préhistorique. Pilotc 24 Ed. Perigueux, (France) 1995, 224 p.
35. O'Dea K. Marked improvement in carbohydrate and lipid metabolism in diabetic Australian aborigenes after temporary reversion to traditional life style. Diabetes, 1984, 33, 596-603.
36. 3-adrenergic receptor and an increased capacity to gain weigh in patients with morbid obesity. N Engl J Med, 1995, 333, 352-354.
37. 3-adrenergic receptor gene. N Engl J Med, 1995, 333, 343-347.
38. 3-adrenergic receptor with NIDDM and body weight gain. Diabetologia, 1996, 39, 349-352.
39. 3-adrenergic receptor gene with features of the insulin resistance syndrome in Finns. N Engl J Med, 1995, 333, 348-351.
40. Prochazka L, Lillioja S, Tait JF et al. Linkage of chromosomal markers on 4q with a putative gene determining maximal insulin action in Pima Indians. Diabetes, 1993, 42, 514-519.
41. Humphrey SP, Mac Carthy M, Tuomilheto J et al. Chromosome 4q locus associated with insulin resistance in Pima Indians : studies in three European NIDDM populations. Diabetes, 1994, 43, 800-804.
42. Clément K, Garner C, Hager J et al. Indication for linkage of the human OB gene region with extreme obesity. Diabetes, 1996, 45, 687-690.
43. Reed DR, Ding Y, Xu W et al. Extreme obesity may be linked to markers flanking the human OB gene. Diabetes, 1996, 45, 691-694.
44. Niki T, Mori H, Tamori Y et al. Human obese gene. Molecular screening in Japanese and Asian Indian MDDM patients associated with obesity. Diabetes, 1996, 45, 675-678.
45. Maffei M, Stoffel M, Barone M et al. Absence of mutations in the human OB gene in obese/diabetic subjects. Diabetes, 1996, 45, 679-682.
46. Almind K, Bjorbaek C, Vestergaard. et al. Amino-acid polymorphisms of insulin receptor substrate-1 in non-insulin-dependent diabetes mellitus. Lancet, 1993, 342, 828-832.
47. Groop LC, Kankuri M, Schalin-Jänti C et al. Association between polymorphism of the glycogen synthase gene and non-insulin-dependent diabetes mellitus. N Engl J Med, 1993, 320, 10-14.
48. Fajans SS. Scope and heterogeneous nature of MODY. Diabetes Care, 1990, 13, 49-64.
49. Froguel P, Vaxillaire M, Sun F et al. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature, 1992, 356, 162-164.
50. Froguel P, Zouali H, Vionnet N et al. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabete mellitus. N Engl J Med, 1993, 328, 697-702.
51. Velho G, Froguel P, Clément K et al. Primary pancreatic beta-cell secretory defect caused by mutations in the glucokinase in kindreds of maturity onset diabetes of the young. Lancet, 1992, 340, 444-448.
52. Byrne MM, Sturis J, Clément K et al. Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. J Clin Invest, 1994, 93, 1120-1130.
53. Yamagata K, Furuta H, Oda N et al. Mutations in the hepatic nuclear factor -4α in maturity-onset diabetes of the young (MODY 1). Nature, 1996, 384, 458-460.
54. 1 gene on chromosome 20. Diabetes, 1995, 44, 699-704.
55. Yamagata K, Oda N, Kaisaki PJ et al. Mutations in the hepatocyte nuclear factor -1α gene in maturity-onset diabetes of the young. Nature, 1996, 384, 455-458 .
56. 3 locus on chromosome 12q. Diabetes Care, 1996, 19, 915-919.
57. Thomas F, Balkau B, Vauzelle-Kervroedan F et al. Maternal effect and familial aggregation in NIDDM. The CODIAB study. Diabetes, 1994, 43, 63-67.
58. Ballinger SW, Shoffner JM, Hedaya EV et al. Maternally transmitted diabetes and deafness associaced with a 10.4 kb mitochondrial DNA deletion. Nature Genet, 1992, 1, 11-15.
59. Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet, 1992, 1, 368-371.
60. Leu(UUR) gene. Diabetes Care, 1995, 18, 1023-1028.
61. Massin P, Guillausseau PJ, Vialettes B et al. Macular pattern dystrophy associated with a mutation of mitochondrial DNA. Am J Ophthalmol, 1995, 120, 247-248.
62. Leu(UUR) mutation. Characteristic neuroimaging findings. Diabetes Care, 1996, 19, 739-743.
63. Leu(UUR) gene mutation. Diabetes, 1996, 45, 478-487.
64. Gerbitz KD, Gempel K, Brdiczka D. Mitochondria and diabetes. Genetic, biochemical clinical implications of the cellular energy circuit. Diabetes, 1996, 45, 113-126.
65. Vionnet N, Passa P, Froguel P. Prevalence of mitochondrial gene mutations in families with diabetes mellitus. Lancet, 1993, 342, 1429-1430.
66. Rötig A, Bonnefont JP, Munnich A. Mitochondrial diabetes mellitus. Diabete Metab, 1996, 22, 291-298.
67. Kobayashi T, Oka Y, Katagiri H et al. Association between HLA and islet cell antibodies in diabetic patients with a mitochondrial DNA mutation at base pair 3243. Diabetologia, 1996, 39, 1196-1200.
68. Taylor SI, Cama A, Accili D et al. Mutations in the insulin receptor gene. Endocr Rev, 1992, 13, 566-595.
69. Steiner DF, Tager HS, Chan SJ et al. Lessons learned form molecular biology of insulin-gene mutations. Diabetes Care, 1990, 13, 600-609.
70. Whitcomb DC, Gorry MC, Preston RA et al. Hereditary pancreatitis is caused by a mutation in the cationic trysinogen gene. Nature Genet, 1996, 14, 141-145.
71. Hager J, Hansen L, Vaisse C et al. A missense mutation in the glucagon receptor gene is associated with NIDDM. Nature Genet, 1995, 5, 299-304.
72. Hansen LH, Abrahamsen N, Hager J et al. The Gly 40 Ser mutation in the human glucagon receptor associated with NIDDM results in a receptor with reduced sensitivity to glucagon. Diabetes, 1996, 45, 725-730.
73. Fujisawa T, Ikegami H, Takekawa K et al. A mutation in the glucagon receptor (Gly 40 ser) : heterogeneity in the association with diabetes mellitus. Diabelologia, 1995, 38, 983-985.
74. Ristow M, Busch K, Schatz H et al. Restricted geographical extension of the association of a glucagon receptor gene mutation (Gly 40 Ser) with non-insulin-dependent diabetes mellitus. Diabetes Res Clin Pract, 1996, 32, 183-185.
75. Aguilar-Bryan L, Nichols CG, Wechsler SW et al. Cloning of the β cell high-affinity sulfonylurea receptor : a regulator of insulin secretion. Science, 1995, 268, 423-426.
76. Inoue H, Ferrer J, Welling CM et al. Sequence variants in the sulfonylurea receptor (SUR) are associated with NIDDM in Caucasians. Diabetes, 1996, 45, 825-831.
77. Stirling B, Cox NJ, Bell GI et al. Linkage studies in NIDDM with markers near the sulfonylurea receptor gene. Diabetologia, 1995, 38, 1479-1481.
78. rd Part).
79. rd Part).
80. rd Part).
81. The Diabetes Control and Complications Trial Research Group. The effect of intensive treatment of diabetes on the development and progression of long term complications in insulin-dependent diabetes mellitus. N Engl J Med, 1993, 329, 977-986.
82. Andersen AR, Christiansen JS, Andersen JK et al. Diabetic nephropathy in type 1 (insulin-dependent)) diabetes : an epidemiological study. Diabetologia, 1983, 25, 496-501.
83. Seaquist ER, Goetz FC, Rich S et al. Familial clustering of diabetic kidney disease. Evidence to genetic susceptibility to diabetic nephropathy. N Engl J Med, 1989, 320, 1161-1165.
84. Ko BCB, Lam KSL, Wat NMs et al. An (A-C) dinucleotide repeat polymorphism marker at the 5' end of the aldose reductase gene is associated with early-onset diabetic retinopathy in NIDDM. Diabetes, 1995, 44, 727-732.
85. Patel A, Hibberd ML, Millward BA et al. Chromosome 7q 35 and susceptibility to diabetic microvascular complications. J Diabetes Complications, 1996, 10, 62-67.
86. 60.
87. Doi Y, Yoshizumi H, Yoshinari M et al. Association between a polymorphism in the angiotensin-converting enzyme gene and microvascular complications in Japanese patients with NIDDM. Diabetologia, 1996, 39, 97-102.
88. Tarnow L, Cambien F, Rossing P et al. Insertion-deletion polymorphism in the angiotensin-I-converting enzyme gene is associated with coronary heart disease in IDDM patient with diabetic nephropathy. Diabelologia, 1995, 38, 798-803.
89. Fujisawa T, Ikegami H, Shen GA et al. Angiotensin I converting enzyme gene polymorphism is associated with myocardial infarction, but not with retinopathy or nephropathy in NIDDM. Diabetes Care, 1995, 18, 983-985.
90. Keavney BD, Dudley CRK, Stratton IM et al. UK Prospective Diabetes Study (UKPDS) 14 Association of angiotensin converting enzyme insertion/deletion polymorphism with myocardial infarction in NIDDM. Diabetologia, 1995, 38, 948-952.
91. Suzuki Y, Muramatsu T, Taniyama M et al Association of aldehyde dehydrogenase with inheritance of NIDDM. Diabetalogia, 1996, 39, 1115-1118.
92. Heywood DM, Mansfield MW, Grant PJ. Levels of von Willebrand factor, insulin resistance syndrome and a common VWF gene polymorphism in non-insulin-dependent (type 2) diabetes mellitus. Diabet Med, 1996, 73, 720-725.
93. Carter AM, Mansfield MW, Stickland MH et al. β-fibrinogen gene - 455 G/A polymorphism and fibrinogen levels : risk factors for coronary artery disease in subjects with NIDDM. Diabetes Care, 1996, 19, 1265-1268.