The rare HLA-DQA1*03-DQB1*02 haplotype confers susceptibility to type 1 diabetes in whites and is preferentially associated with early clinical disease onset in male subjects

Human Immunology

Volumn 65, Issue 7, 2004, Pages 729-736

  Van Autreve, Jan E ^a   Weets, Ilse ^a   Gulbis, Béatrice ^a   Vertongen, Françoise ^a   Gorus, Frans K ^a   Van Der Auwera, Bart J ^a  

^a VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

Author keywords

autoantibodies; HLA; risk; type 1 diabetes

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; CAUCASIAN; CHILD; CHROMOSOME; CLINICAL FEATURE; CONTROL GROUP; CONTROLLED STUDY; DOT HYBRIDIZATION; FEMALE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HEREDITY; HUMAN; INFANT; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; RISK; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; AFRICA, NORTHERN; AGE OF ONSET; AUTOANTIBODIES; BELGIUM; BODY MASS INDEX; C-PEPTIDE; CHILD; CHILD, PRESCHOOL; DIABETES MELLITUS, TYPE 1; DNA; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HEMOGLOBIN A, GLYCOSYLATED; HLA-DQ ANTIGENS; HLA-DR ANTIGENS; HUMANS; INFANT; KETONES; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEX FACTORS;

EID: 4043149340     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.humimm.2004.04.004     Document Type: Article

References (40)

1. Herr M., Dudbridge F., Zavattari P., Cucca F., Guja C., March R., Campbell R.D., Barnett A.H., Bain S.C., Todd J.A., Koeleman B.P. Evaluation of fine mapping strategies for a multifactorial disease locus systematic linkage and association analysis of IDDM1 in the HLA region on chromosome 6p21. Hum Mol Genet. 9:2000;1291
2. Thomson G. Investigation of the mode of inheritance of the HLA associated diseases by the method of antigen genotype frequencies among diseased individuals. Tissue Antigens. 21:1983;81
3. Rotter J.I., Anderson C.E., Rubin R., Congleton J.E., Terasaki P.I., Rimoin D.L. HLA genotypic study of insulin-dependent diabetes the excess of DR3/DR4 heterozygotes allows rejection of the recessive hypothesis. Diabetes. 32:1983;169
4. Baisch J.M., Weeks T., Giles R., Hoover M., Stastny P., Capra J.D. Analysis of HLA-DQ genotypes and susceptibility in insulin-dependent diabetes mellitus. N Engl J Med. 322:1990;1836
5. the Belgian Diabetes Registry, Van der Auwera B., Schuit F.C., Weets I., Ivens A., Van Autreve J., Gorus F.K. Relative and absolute HLA-DQA1-DQB1 linked risk for developing type I diabetes before 40 years of age in the Belgian population implications for future prevention studies. Hum Immunol. 63:2002;40
6. Decochez K., De Leeuw I.H., Keymeulen B., Mathieu C., Rottiers R., Weets I., Vandemeulebroucke E., Truyen I., Kaufman L., Schuit F.C., Pipeleers D.G., Gorus F.K. the Belgian Diabetes Registry IA-2 autoantibodies predict impending type I diabetes in siblings of patients. Diabetologia. 45:2002;1658
7. Kwok W.W., Schwarz D., Nepom B.S., Hock R.A., Thurtle P.S., Nepom G.T. HLA-DQ molecules form alpha-beta heterodimers of mixed allotype. J Immunol. 141:1988;3123
8. Nepom B.S., Schwarz D., Palmer J.P., 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
9. Cucca F., Muntoni F., Lampis R., Frau F., Argiolas L., Silvetti M., Angius E., Cao A., De Virgiliis S., Congia M. Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia. Hum Immunol. 37:1993;85
10. Khalil I., Spyropoulou M., Mallet C., Loste M.N., Douay C., Laperriere J., Bartzokas C., Lepage V., Charron D., Stavropoulos C. HLA class II polymorphism and IDDM susceptibility in the Greek population. Eur J Immunogenet. 20:1993;193
11. Petrone A., Bugawan T.L., Mesturino C.A., Nistico L., Galgani A., Giorgi G., Cascino I., Erlich H.A., Di Mario U., Buzzetti R. The distribution of HLA class II susceptible/protective haplotypes could partially explain the low incidence of type 1 diabetes in continental Italy (Lazio region). Tissue Antigens. 58:2001;385
12. National Diabetes Data Group. Classification and diagnosis of diabetes mellitus and other categories of glucose intolerance. Diabetes. 28:1979;1039
13. the Belgian Diabetes Registry, Weets I., Van Autreve J., Van der Auwera B.J., Schuit F.C., Du Caju M.V., Decochez K., De Leeuw I.H., Keymeulen B., Mathieu C., Rottiers R., Dorchy H., Quartier E., Gorus F.K. Male-to-female excess in diabetes diagnosed in early adulthood is not specific for the immune-mediated form nor is it HLA-DQ restricted possible relation to increased body mass index. Diabetologia. 44:2001;40
14. Bodmer J., Cambon-Thomsen A., Hors J., Piazza A., Sanchez-Mazas A. Anthropology report. Introduction. Charron D. Genetic Diversity of HLA - Functional and Medical Implications. 1997;EDK, Paris
15. Heimberg H., Nagy Z.P., Somers G., De Leeuw I., Schuit F.C. Complementation of HLA-DQA and -DQB genes confers susceptibility and protection to insulin-dependent diabetes mellitus. Hum Immunol. 33:1992;10
16. Ronningen K.S., Spurkland A., Tait B.D., Drummond B., Lopez-Larrea C., Baranda F.S., Menendez-Diaz M.J., Caillat-Zucman S., Beaurain G., Garchon H.J., Ilonen J., Reijonen H., Knip M., Boehm B.O., Rosak C., Löliger C., Küknl P., Ottenhoff T., Contu L., Carcassi C., Savi M., Zanelli P., Neri T.M., Hamaguchi K., Kimura A., Dong R.P., Chikuba N., Nagataki S., Gorodezky C., Debaz H., Robles C., Coimbra H.B., Martinho A., Ruass M.A., Sachs J.A., Garcia-Pachedo M., Biro A., Nikaein A., Dombrausky L., Gonwa T., Zmijewski C., Monos D., Kamoun M., Layrisse Z., Magli M.C., Balducci P., Thorsby E. HLA class II associations in insulin-dependent diabetes mellitus among blacks Caucasoids, and Japanese. Tsuji K., Aizawa M., Sasazuki T. HLA 1991 - Proceedings of the Eleventh International Histocompatibility Workshop and Conference. 1992;Oxford University Press, Oxford
17. Klitz W., Maiers M., Spellman S., Baxter-Lowe L.A., Schmeckpeper B., Williams T.M., Fernandez-Vina, M. New HLA haplotype frequency reference standards high-resolution and large sample typing of HLA DR-DQ haplotypes in a sample of European Americans. Tissue Antigens. 62:2003;296
18. Nejentsev S., Sjoroos M., Soukka T., Knip M., Simell O., Lovgren T., Ilonen J. Population-based genetic screening for the estimation of type 1 diabetes mellitus risk in Finland selective genotyping of markers in the HLA-DQB1, HLA-DQA1 and HLA-DRB1 loci. Diabet Med. 16:1999;985
19. the Belgian Diabetes Registry, Vandewalle C.L., Decraene T., Schuit F.C., De Leeuw I.H., Pipeleers D.G., Gorus F.K. Insulin autoantibodies and high titre islet cell antibodies are preferentially associated with the HLA DQA1*0301-DQB1*0302 haplotype at clinical type 1 (insulin-dependent) diabetes mellitus before age 10 years, but not at onset between age 10 and 40 years. Diabetologia. 36:1993;1155
20. the Belgian Diabetes Registry, Vandewalle C.L., Falorni A., Lernmark A., Goubert P., Dorchy H., Coucke W., Semakula C., Van der Auwera B., Kaufman L., Schuit F.C., Pipeleers D.G., Gorus F.K. Associations of GAD65- and IA-2- autoantibodies with genetic risk markers in new-onset IDDM patients and their siblings. Diabetes Care. 20:1997;1547
21. the Belgian Diabetes Registry, Decochez K., Tits J., Coolens J.L., Van Gaal L., Krzentowski G., Winnock F., Anckaert E., Weets I., Pipeleers D.G., Gorus F.K. High frequency of persisting or increasing islet-specific autoantibody levels after diagnosis of type 1 diabetes presenting before 40 years of age. Diabetes Care. 23:2000;838
22. Cole T.J., Freeman J.V., Preece M.A. Body mass index reference curves for the UK, 1990. Arch Dis Child. 73:1995;25
23. Report of the expert committee on the diagnosis and classification of diabetes mellitus. Diabetes Care 26: S5, 2003
24. Khalil I., Deschamps I., Lepage V., al-Daccak R., Degos L., Hors J. Dose effect of cis- and trans-encoded HLA-DQ alpha beta heterodimers in IDDM susceptibility. Diabetes. 41:1992;378
25. Thorsby E., Ronningen K.S. Particular HLA-DQ molecules play a dominant role in determining susceptibility or resistance to type 1 (insulin-dependent) diabetes mellitus. Diabetologia. 36:1993;371
26. Gjertsen H.A., Lundin K.E., Ronningen K.S., Gaudernack G., Thorsby E. T cells recognizing an HLA-DQ alpha beta heterodimer encoded in cis by the DR4DQw4 haplotype and in trans by DR4DQw8/DRw8DQw4 heterozygous cells. Hum Immunol. 30:1991;226
27. Sang Y., Yan C., Zhu C., Ni G. Relationship between HLA-DRB1 and DQ alleles and the genetic susceptibility to type 1 diabetes. Chin Med J (Engl). 114:2001;407
28. Todd J.A., Mijovic C., Fletcher J., Jenkins D., Bradwell A.R., Barnett A.H. Identification of susceptibility loci for insulin-dependent diabetes mellitus by trans-racial gene mapping. Nature. 338:1989;587
29. Abdulkadir J., Worku Y., Giphart M.J., Telahun M., Roep B.O., Ottenhoff T.H., Schreuder G.M. Susceptibility alleles at HLA-DRB1, -DQA1, and -DQB1 loci in Ethiopian childhood insulin-dependent diabetes mellitus. Hum Immunol. 41:1994;171
30. Lee H.C., Ikegami H., Fujisawa T., Ogihara T., Park S.W., Chung Y.S., Park J.O., Lee E.J., Lim S.K., Kim K.R., Huh K.B., Kim Y.S., Lee D.S., Kim D.H., Fugisawa T. Role of HLA class II alleles in Korean patients with IDDM. Diabetes Res Clin Pract. 31:1996;9
31. Bugawan T.L., Klitz W., Alejandrino M., Ching J., Panelo A., Solfelix C.M., Petrone A., Buzzetti R., Pozzilli P., Erlich H.A. The association of specific HLA class I and II alleles with type 1 diabetes among Filipinos. Tissue Antigens. 59:2002;452
32. Haider M.Z., Shaltout A., Alsaeid K., Qabazard M., Dorman J. Prevalence of human leukocyte antigen DQA1 and DQB1 alleles in Kuwaiti Arab children with type 1 diabetes mellitus. Clin Genet. 56:1999;450
33. Chen B.H., Chiang C.H., Lin S.R., Chao M.G., Tsai S.T. The influence of age at onset and gender on the HLA-DQA1, DQB1 association in Chinese children with insulin dependent diabetes mellitus. Hum Immunol. 60:1999;1131
34. She J.X. Susceptibility to type I diabetes HLA-DQ and DR revisited. Immunol Today. 17:1996;323
35. The Belgian Diabetes Registry, Donner H., Seidl C., Van der Auwera B., Braun J., Siegmund T., Herwig J., Weets I., Usadel K.H., Badenhoop K. HLA-DRB1*04 and susceptibility to type 1 diabetes mellitus in a German/Belgian family and German case-control study. Tissue Antigens. 55:2000;271
36. the Belgian Diabetes Registry: DRB1*0403 protects against IDDM in Caucasians with the high-risk heterozygous DQA1*0301-DQB1*0302/ DQA1*0501-DQB1*0201 genotype, Van der Auwera B., Van Waeyenberge C., Schuit F., Heimberg H., Vandewalle C., Gorus F., Flament J. Diabetes. 44:1995;527
37. Gorus FK. and the Belgian Diabetes Registry. Diabetes registries and early biological markers of insulin-dependent diabetes mellitus. Diabetes Metab Rev. 13:1997;247
38. Cucca F., Goy J.V., Kawaguchi Y., Esposito L., Merriman M.E., Wilson A.J., Cordell H.J., Bain S.C., Todd J.A. A male-female bias in type 1 diabetes and linkage to chromosome Xp in MHC HLA-DR3-positive patients. Nat Genet. 19:1998;301
39. Pozzilli P., Mesturino C.A., Crino A., Gross T.M., Jeng L.M., Visalli N. Is the process of beta-cell destruction in type 1 diabetes at time of diagnosis more extensive in females than in males? Eur J Endocrinol. 145:2001;757
40. the Belgian Diabetes Registry: Relation between disease phenotype and HLA-DQ genotype in diabetic patients diagnosed in early adulthood, Weets I., Siraux V., Daubresse J.C., De Leeuw I.H., Fery F., Keymeulen B., Krzentowski G., Letiexhe M., Mathieu C., Nobels F., Rottiers R., Scheen A., Van Gaal L., Schuit F.C., Van der Auwera B., Rui M., De Pauw P., Kaufman L., Gorus F.K. J Clin Endocrinol Metab. 87:2002;2597