A genetic explanation for the rising incidence of type 1 diabetes, a polygenic disease

Journal of Autoimmunity

Volumn 27, Issue 3, 2006, Pages 174-181

  Awdeh, Z L ^a,f   Yunis, Edmond J ^a,b,c   Audeh, Mark J ^d   Fici, Dolores ^a,f   Pugliese, Alberto ^e   Larsen, Charles E ^a,b   Alper, Chester A ^a,b  

^a CENTER FOR BLOOD RESEARCH   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c DANA FARBER CANCER INSTITUTE   (United States)

^d BOSTON COLLEGE   (United States)

^e UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^f Pulsar Clinical Technologies Inc   (United States)

Author keywords

Excess heterozygosity; Rising incidence of type 1 diabetes; Type 1 diabetes

Indexed keywords

HLA DR3 ANTIGEN; HLA DR4 ANTIGEN; INSULIN;

ARTICLE; CAUCASIAN; CONTROLLED STUDY; DISEASE MARKER; DISEASE PREDISPOSITION; DISEASE TRANSMISSION; ETHNOLOGY; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC RISK; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; INCIDENCE; INSULIN DEPENDENT DIABETES MELLITUS; MALE; MORBIDITY; MULTIFACTORIAL INHERITANCE; PRIORITY JOURNAL; PROGENY; SELF REPORT;

DIABETES MELLITUS, TYPE 1; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HLA-A ANTIGENS; HLA-DR3 ANTIGEN; HLA-DR4 ANTIGEN; HUMANS; INCIDENCE; INSULIN; MALE; MINISATELLITE REPEATS; MULTIFACTORIAL INHERITANCE; PEDIGREE;

EID: 33845982534     PISSN: 08968411     EISSN: 10959157     Source Type: Journal    
DOI: 10.1016/j.jaut.2006.08.004     Document Type: Article

References (56)

1. Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Report of the expert committee on the diagnosis and classification of diabetes mellitus. Diabetes Care 20 (1997) 1183-1197
2. Karvonen M., Tuomilehto J., Libman I., and LaPorte R. A review of the recent epidemiological data on the worldwide incidence of type 1 (insulin-dependent) diabetes mellitus. World Health Organization DIAMOND Project Group. Diabetologia 36 (1993) 883-892
3. Onkamo P., Vaananen S., Karvonen M., and Tuomilehto J. Worldwide increase in incidence of Type I diabetes-the analysis of the data on published incidence trends. Diabetologia 42 (1999) 1395-1403
4. Singal D.P., and Blajchman M.A. Histocompatibility (HL-A) antigens, lymphocytotoxic antibodies and tissue antibodies in patients with diabetes mellitus. Diabetes 22 (1973) 429-432
5. Nerup J., Platz P., Andersen O.O., Christy M., Lyngsoe J., Poulsen J.E., et al. HL-A antigens and diabetes mellitus. Lancet ii (1974) 864-866
6. Raum D., Awdeh Z., Yunis E.J., Alper C.A., and Gabbay K.H. Extended major histocompatibility complex haplotypes in Type 1 diabetes mellitus. J Clin Invest 74 (1984) 449-454
7. Noble J.A., Valdes A.M., Cook M., Klitz W., Thomson G., and Erlich H.A. The role of HLA class II genes in insulin-dependent diabetes mellitus: molecular analysis of 180 Caucasian, multiplex families. Am J Hum Genet 59 (1996) 1134-1148
8. Hirschhorn J.N. Genetic epidemiology of type 1 diabetes. Pediatr Diabetes 4 (2003) 87-100
9. Larsen C.E., and Alper C.A. The genetics of HLA-associated disease. Curr Opin Immunol 16 (2004) 660-667
10. Raffel L.J., and Rotter J.I. Diabetes mellitus. In: Rimoin D.L., Connor J.M., Pyeritz R.E., and Korf B.R. (Eds). Emery and Rimoin's principles and practice of medical genetics. 4th ed. (2002), Churchill-Livingstone, London 2231-2276
11. Pociot F., and McDermott M.F. Genetics of type 1 diabetes mellitus. Genes Immun 3 (2002) 235-249
12. Bell G.I., Horita S., and Karam J.H. A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes 33 (1984) 176-183
13. Nistico L., Buzzetti R., Pritchard L.E., Van der Auwera B., Giovannini C., Bosi E., et al. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. Hum Mol Genet 5 (1996) 1075-1080
14. Bottini N., Musumeci L., Alonso A., Rahmouni S., Nika K., Rostamkhani M., et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 36 (2004) 337-338
15. Spielman R.S., Baker L., and Zmijewski C.M. Gene dosage and susceptibility to insulin-dependent diabetes. Ann Hum Genet 44 (1980) 135-150
16. Thomson G., Robinson W.P., Kuhner M.K., Joe S., MacDonald M.J., Gottschall J.L., et al. Genetic heterogeneity, modes of inheritance, and risk estimates for a joint study of Caucasians with insulin-dependent diabetes mellitus. Am J Hum Genet 43 (1988) 799-816
17. Rubinstein P., Suciu-Foca N., and Nicholson J.F. Genetics of juvenile diabetes mellitus. A recessive gene closely linked to HLA D and with 50 per cent penetrance. N Engl J Med 297 (1977) 1036-1040
18. Raum D., Awdeh Z., and Alper C.A. BF types and the mode of inheritance of insulin-dependent diabetes mellitus (IDDM). Immunogenetics 12 (1981) 59-74
19. Rich S.S., Green A., Morton N.E., and Barbosa J. A combined segregation and linkage analysis of insulin-dependent diabetes mellitus. Am J Hum Genet 40 (1987) 237-249
20. Rubinstein P., Walker M., Mollen N., Carpenter C., Beckerman S., Suciu-Foca N., et al. No excess of DR*3/4 in Ashkenazi Jewish or Hispanic IDDM patients. Diabetes 39 (1990) 1138-1143
21. Deschamps I., Lestradet H., Bonaiti C., Schmid M., Busson M., Benajam A., et al. HLA genotype studies in juvenile insulin-dependent diabetes. Diabetologia 19 (1980) 189-193
22. Svejgaard A., and Ryder L.P. HLA genotype distribution and genetic models of insulin-dependent diabetes mellitus. Ann Hum Genet 45 (1981) 293-298
23. Huang H.S., Peng J.T., She J.Y., Zhang L.P., Chao C.C., Liu K.H., et al. HLA-encoded susceptibility to insulin-dependent diabetes mellitus is determined by DR and DQ genes as well as their linkage disequilibria in a Chinese population. Hum Immunol 44 (1995) 210-219
24. Awata T., Kuzuya T., Matsuda A., Iwamoto Y., and Kanazawa Y. Genetic analysis of HLA class II alleles and susceptibility to type 1 (insulin-dependent) diabetes mellitus in Japanese subjects. Diabetologia 35 (1992) 419-424
25. Nepom B.S., Schwarz D., Palmer J.P., and Nepom G.T. Transcomplementation of HLA genes in IDDM. HLA-DQ alpha- and beta-chains produce hybrid molecules in DR3/4 heterozygotes. Diabetes 36 (1987) 114-117
26. Thomson G. A two locus model for juvenile diabetes. Ann Hum Genet 43 (1980) 383-388
27. Alper C.A., Dubey D.P., Yunis E.J., and Awdeh Z. A simple estimate of the general population frequency of the MHC susceptibility gene for autoimmune polygenic disease. Exp Clin Immunogenet 17 (2000) 138-147
28. Pitkäniemi J., Onkamo P., Tuomilehto J., and Arjas E. Increasing incidence of Type 1 diabetes-role for genes?. BMC Genet 5 (2004) 5-17
29. Awdeh Z.A., and Alper C.A. Mendelian inheritance of polygenic diseases: a hypothetical basis for increasing incidence. Med Hypotheses 64 (2005) 495-498
30. Imanishi T., Akaza T., Kimura A., Tokunaga K., and Gojobori T. Proceedings of the eleventh international histocompatibility workshop and conference. In: Tsuji K., Aizawa M., and Sasazuki T. (Eds) (1992), Oxford University Press, Oxford 81-391
31. Olerup O., and Zetterquist H. HLA-DR typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours: an alternative to serological DR typing in clinical practice including donor-recipient matching in cadaveric transplantation. Tissue Antigens 39 (1992) 225-235
32. Bain S.C., Prins J.B., Hearne C.M., Rodrigues N.R., Rowe B.R., Pritchard L.E., et al. Insulin gene region-encoded susceptibility to type 1 diabetes is not restricted to HLA-DR4-positive individuals. Nat Genet 2 (1992) 212-215
33. Pugliese A., Awdeh Z.L., Alper C.A., Jackson R.A., and Eisenbarth G.S. The paternally inherited insulin gene B allele (1,428 FokI site) confers protection from insulin-dependent diabetes in families. J Autoimm 7 (1994) 687-694
34. Pritchard J.K., and Rosenberg N.A. Use of unlinked genetic markers to detect population stratification in association studies. Am J Hum Genet 65 (1999) 220-228
35. Imanishi T., Akaza T., Kimura A., Tokunaga K., and Gojobori T. Proceedings of the eleventh international histocompatibility workshop and conference. In: Tsuji K., Aizawa M., and Sasazuki T. (Eds) (1992), Oxford University Press, Oxford 1066-1073
36. Cavalli-Sforza L.L., and Bodmer W.F. The genetics of human populations. In: Kennedy D., and Park R.B. (Eds) (1971), W.H. Freeman, San Francisco 58
37. Deng H.-W., Chen W.-M., and Recker R.R. Population admixture: Detection by the Hardy-Weinberg test and its quantitative effects on linkage-disequilibrium methods for localizing genes underlying complex traits. Genetics 157 (2000) 885-897
38. Julier C., Hyer R.N., Davies J., Merlin F., Soularue P., Briant L., et al. Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility. Nature 354 (1991) 155-159
39. Zhao H.X., Moyeed R.A., Stenhouse E.A., Demaine A.G., and Millward B.A. Space-time clustering of childhood Type 1 diabetes in Devon and Cornwall, England. Diabet Med 19 (2002) 667-672
40. Eriksson A.W. Genetic polymorphisms in Finno-Ugrian populations. Finns, Lapps and Maris. Isr J Med Sci 9 (1973) 1156-1170
41. Kittles R.A., Perola M., Peltonen L., Bergen A.W., Aragon R.A., Virkkunen M., et al. Dual origins of Finns revealed by Y chromosome haplotype variation. Am J Hum Genet 62 (1998) 1171-1179
42. Karvonen M., Rusanen J., Sundberg M., Virtala E., Colpaert A., Naukkarinen A., et al. Regional differences in the incidence of insulin-dependent diabetes mellitus among children in Finland from 1987 to 1991. Childhood Diabetes in Finland (DiMe) Study Group. Ann Med 29 (1997) 297-304
43. Ilonen J., Reijonen H., Green A., Reunanen A., Knip M., Simell O., et al. Geographical differences within Finland in the frequency of HLA-DQ genotypes associated with type 1 diabetes susceptibility. The Childhood Diabetes in Finland Study Group. Eur J Immunogenet 27 (2000) 225-230
44. Morelli L., Grosso M.G., Vona G., Varesi L., Torroni A., and Francalacci P. Frequency distribution of mitochondrial DNA haplogroups in Corsica and Sardinia. Hum Biol 72 (2000) 585-595
45. Angius A., Bebbere D., Petretto E., Falchi M., Forabosco P., Maestrale B., et al. Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations. Hum Genet 111 (2002) 9-15
46. Patrick S.L., Kadohiro J.K., Waxman S.H., Curb J.D., Orchard T.J., Dorman J.S., et al. IDDM incidence in a multiracial population. The Hawaii IDDM Registry, 1980-1990. Diabetes Care 20 (1997) 983-987
47. Godkin A., and Jewell D. The pathogenesis of celiac disease. Gastroenterology 115 (1998) 206-210
48. Tiwari J.L., Betuel H., Gebuhrer L., and Morton N.E. Genetic epidemiology of coeliac disease. Genet Epidemiol 1 (1984) 37-42
49. Louka A.S., and Sollid L.M. HLA in coeliac disease: unravelling the complex genetics of a complex disorder. Tissue Antigens 61 (2003) 105-117
50. Hermann R., Knip M., Veijola R., Simell O., Laine A.P., Akerblom H.K., et al. Temporal changes in the frequencies of HLA genotypes in patients with Type 1 diabetes-indication of an increased environmental pressure?. Diabetologia 46 (2003) 420-425
51. Rewers M., and Zimmet P. The rising tide of childhood type 1 diabetes-what is the elusive environmental trigger?. Lancet 364 (2004) 1645-1647
52. Pani MA, Van Autreve, Van der Auwera BJ, Gorus FK, Badenhoop K. Non-transmitted maternal HLA DQ2 or DQ8 alleles and risk of Type 1 diabetes in offspring: the importance of fetal or post partum exposure to diabetogenic molecules. Diabetologia 2002;45:1340-3.
53. Fessel W.J. Systemic lupus erythematosus in the community. Incidence, prevalence, outcome, and first symptoms; the high prevalence in black women. Arch Intern Med 134 (1974) 1027-1035
54. Bae S.-C., Fraser P., and Liang M.H. The epidemiology of systemic lupus erythematosus in populations of African ancestry: a critical review of the "prevalence gradient hypothesis". Arthritis Rheum 41 (1998) 2091-2099
55. Granados J., Vargas-Alarcon G., Andrade F., Melin-Aldana H., Alcocer-Varela J., and Alarcon-Segovia D. The role of HLA-DR alleles and complotypes through the ethnic barrier in systemic lupus erythematosus in Mexicans. Lupus 5 (1996) 184-189
56. Howie J.B., and Helyer B.J. The immunology and pathology of NZB mice. Adv Immunol 9 (1968) 215-266